Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 1303329
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ush1c
Name: USH1 protein network component harmonin
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Ush1c ISOUSH1C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:10973247 PMID:11139240 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 PMID:22135276 PMID:24033266 PMID:24416283 PMID:24498627 PMID:25525159 PMID:25741868 PMID:27743452 PMID:28492532
Go Back to source page   Continue to Ontology report