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
Coronary heart disease
Source Database
DisGeNET
Description
The E23K polymorphism in Kir6.2 gene and coronary heart disease.
Pubmed
16455067
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00772985607175154
Year of publication
2006
Drugs