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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10052799
Species: Homo sapiens
RGD Object: Variant
Symbol: CV195351
Name: NM_006005.3(WFS1):c.683G>A (p.Arg228His)
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)
CV195351 IAGP 8554872ClinVarClinVar Annotator: match by term: Type 2 diabetes mellitus

PMID:24033266 PMID:25133958 PMID:25741868 PMID:28432734 PMID:28492532
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