Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Arg50Pro (p.R50P)
(
ENST00000682350.1,
ENST00000682764.1,
ENST00000339994.5,
ENST00000528731.1 )
KCNJ11 p.Arg50Gln (p.R50Q) ( ENST00000339994.5, ENST00000682350.1, ENST00000682764.1, ENST00000528731.1 )
KCNJ11 p.Leu2Pro (p.L2P) ( ENST00000682764.1, ENST00000682350.1, ENST00000339994.5, ENST00000528731.1 )
KCNJ11 p.Arg50Pro (p.R50P) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Arg50Gln (p.R50Q) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Leu2Pro (p.L2P) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Neonatal diabetes mellitus
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.149315722184673
- Year of publication
- NA
Drugs