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.Arg50Pro (p.R50P) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Arg50Gln (p.R50Q) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Developmental Delay, Epilepsy, and Neonatal Diabetes
- Source Database
- DisGeNET
- Description
- In this study, we present a case of developmental delay, epilepsy and neonatal diabetes (DEND) syndrome in a young male patient with the R50P mutation located in the Kir6.2 subunit of the ATP-sensitive K(+) (KATP) channel.
- Pubmed
- 25739471
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
- Year of publication
- 2016
Drugs