Annotation Detail
Information
- Associated Genes
- IRS1
- Associated Variants
-
IRS1 p.Ala512Pro (p.A512P)
(
ENST00000305123.6 )
IRS1 p.Ala512Pro (p.A512P) ( ENST00000305123.6 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Two mutations of the IRS-1 gene (Gly(972)Arg and Ala(513)Pro) have been described, although their roles in the development of insulin resistance and non-insulin-dependent diabetes mellitus (NIDDM) remain controversial.
- Pubmed
- 9162610
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.62714418720803
- Year of publication
- 1996
Drugs