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 )
ABCC8 p.Ala1391Ser (p.A1391S) ( ENST00000646902.1, ENST00000644772.1, ENST00000302539.9, ENST00000389817.8, ENST00000684571.1, ENST00000643260.1, ENST00000647015.1, ENST00000683136.1, ENST00000642271.1 )
ABCC8 p.Ala1391Thr (p.A1391T) ( ENST00000644772.1, ENST00000646902.1, ENST00000302539.9, ENST00000684571.1, ENST00000389817.8, ENST00000643260.1, ENST00000647015.1, ENST00000683136.1, ENST00000642271.1 )
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
ABCC8 p.Ala1391Ser (p.A1391S) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Ala1391Thr (p.A1391T) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, found in the KCNJ11 and ABCC8 genes, respectively, form a haplotype that is associated with an increased risk for type 2 diabetes.
- Pubmed
- 22209866
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.465515535975549
- Year of publication
- 2012
Drugs