Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
IRS1 p.Gly971Trp (p.G971W)
(
ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 ) - Associated Disease
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
- Source Database
- DisGeNET
- Description
- The study involved a monogenic analysis of CYP21A2 in patients (375 nonclassical 21OHD [NC21OHD] children; 306 hyperandrogenic 21OHD carriers, n = 306) and a polygenic association study (CAPN10-UCSNP44, PON1-108, TNFR2-M196R, IGF2-ApaI and IRS1-G972R polymorphisms) of 170 hyperandrogenic carriers plus 277 family members (control groups).
- Pubmed
- 19039234
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.302953446367544
- Year of publication
- 2009
Drugs