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
E23K variant in KCNJ11 gene is associated with susceptibility to type 2 diabetes in the Mauritanian population.
Pubmed
24332549
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.465515535975549
Year of publication
2013
Drugs