Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
INS MUTATION
INS MUTATION
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes.
- Pubmed
- 12540638
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.373621751212336
- Year of publication
- 2003
Drugs