Annotation Detail

Information
Associated Genes
PIK3R1
Associated Variants
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
PIK3R1 p.Met326Ile (p.M326I) ( ENST00000336483.10, ENST00000521381.6, ENST00000522084.6, ENST00000320694.13, ENST00000517643.2, ENST00000521657.6, ENST00000697457.1, ENST00000697458.1, ENST00000697460.1, ENST00000697461.1, ENST00000697462.1, ENST00000697465.1, ENST00000697466.1 )
PPP1R3A p.Asp905Tyr (p.D905Y) ( ENST00000284601.4 )
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
PIK3R1 p.Met326Ile (p.M326I) ( ENST00000697460.1, ENST00000697461.1, ENST00000697462.1, ENST00000320694.13, ENST00000336483.10, ENST00000517643.2, ENST00000521381.6, ENST00000521657.6, ENST00000522084.6, ENST00000697457.1, ENST00000697458.1, ENST00000697465.1, ENST00000697466.1 )
PPP1R3A p.Asp905Tyr (p.D905Y) ( ENST00000284601.4 )
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
In addition, we screened other reported T2D-associated polymorphisms: PIK3R1 rs3730089, IRS1 rs1801278, and PPP1R3 rs1799999, which did not show any significant association in North Indian population.
Pubmed
23133645
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0887297471682879
Year of publication
2012
Drugs