Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
ABCC8 MUTATION
ABCC8 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
- Source Database
- DisGeNET
- Description
- The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D diabetes, glucose intolerance and altered insulin secretion in a Russian population.
- Pubmed
- 18758683
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00895758177865001
- Year of publication
- 2009
Drugs