Annotation Detail

Information
Associated Genes
KCNJ11
Associated Variants
KCNJ11 p.Arg201Leu (p.R201L) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Arg201His (p.R201H) ( ENST00000682764.1, ENST00000682350.1, ENST00000339994.5, ENST00000528731.1 )
KCNJ11 p.Arg201Leu (p.R201L) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Arg201His (p.R201H) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
Associated Disease
celiac disease
Source Database
DisGeNET
Description
Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of low compliance to the gluten free diet.
Pubmed
19345438
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2009
Drugs