Annotation Detail

Information
Associated Genes
IRS1
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
polycystic ovary syndrome
Source Database
DisGeNET
Description
Very high frequency of the polymorphism for the insulin receptor substrate 1 (IRS-1) at codon 972 (glycine972arginine) in Southern Italian women with polycystic ovary syndrome.
Pubmed
20229450
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0441877384105385
Year of publication
2010
Drugs