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GENE - TERM ANNOTATION REPORT

RGD ID: 621503
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kcnq1
Name: potassium voltage-gated channel subfamily Q member 1
Acc ID: DOID:9007068
Term: Familial Partial Lipodystrophy Type 8
Definition: An autosomal dominant disorder characterized by abnormal distribution of subcutaneous adipose tissue. Caused by heterozygous mutation in the ADRA2A gene on chromosome 10q25.
Definition Source(s): OMIM:620679
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)
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