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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10411213
Species: Homo sapiens
RGD Object: Variant
Symbol: CV211062
Name: NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
Acc ID: DOID:9351
Term: diabetes mellitus
Definition: A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. (DO)
Definition Source(s): http://www.who.int/diabetes/action_online/basics/en/ "DO" "DO", https://en.wikipedia.org/wiki/Diabetes_mellitus "DO" "DO", https://medlineplus.gov/diabetes.html "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9686693 "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)
CV211062 IAGP 8554872ClinVarClinVar Annotator: match by term: Monogenic diabetesPMID:24033266 PMID:25741868 PMID:28492532
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