Annotation Detail
Information
- Associated Genes
- ADRB3
- Associated Variants
-
ADRB3 p.Trp64Arg (p.W64R)
(
ENST00000345060.5 )
ADRB3 p.Trp64Arg (p.W64R) ( ENST00000345060.5 ) - Associated Disease
- Metabolic syndrome X
- Source Database
- DisGeNET
- Description
- A possible pathogenic mutation in the beta 3-adrenergic-receptor gene (Trp64Arg) has been reported to be associated with an earlier age of onset of non-insulin-dependent diabetes mellitus (NIDDM) and clinical features of the insulin resistance syndrome in Pima Indian, Finnish and French subjects.
- Pubmed
- 8721782
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0288277153555461
- Year of publication
- 1996
Drugs