Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 MUTATION
KCNJ11 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
- ABCC8 exons 16 and 31 variants increase susceptibility to T2DM and KCNJ11 E23K decreases insulin secretion in a Turkish population.
- Pubmed
- 22704848
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.465515535975549
- Year of publication
- 2012
Drugs