Send us a Message



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

VARIANT - TERM ANNOTATION REPORT

RGD ID: 38462888
Species: Homo sapiens
RGD Object: Variant
Symbol: CV961074
Name: NM_000162.5(GCK):c.394G>A (p.Asp132Asn)
Acc ID: HP:0005978
Term: Type II diabetes mellitus
Definition: A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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)
CV961074 IAGP 8554872ClinVarClinVar Annotator: match by term: Type 2 diabetes mellitus

PMID:18382660 PMID:24097065 PMID:25741868 PMID:29207974
Go Back to source page   Continue to Ontology report