Annotation Detail
Information
- Associated Genes
- GNB3
- Associated Variants
-
GNB3 p.Ser275= (p.S275=)
(
ENST00000435982.6,
ENST00000229264.8,
ENST00000422785.7 )
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
GNB3 p.Ser275= (p.S275=) ( ENST00000229264.8, ENST00000435982.6, ENST00000422785.7 )
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 ) - Associated Disease
- Metabolic syndrome X
- Source Database
- DisGeNET
- Description
- To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in women with polycystic ovary syndrome (PCOS) and their relation to the metabolic syndrome and hyperandrogenaemia.
- Pubmed
- 20170352
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00900118904036822
- Year of publication
- 2010
Drugs