Annotation Detail
Information
- Associated Genes
- INSR
- 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.Ala512Pro (p.A512P) ( ENST00000305123.6 )
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Ala512Pro (p.A512P) ( ENST00000305123.6 ) - Associated Disease
- Metabolic syndrome X
- Source Database
- DisGeNET
- Description
- The polymorphisms PstI and MaeIII of INS, NsiI of INSR and Ala513Pro and Gly972Arg of IRS1 have been associated with metabolic syndrome; moreover, the products of these genes are functionally contiguous during insulin signaling.
- Pubmed
- 18716398
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2009
Drugs