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 Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- The common KCNJ11 E23K gene variant, but not the ABCC8 exon 16 or exon 18 variant, was consistently associated with Type 2 diabetes.
- Pubmed
- 15842514
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.315472243311533
- Year of publication
- 2005
Drugs