Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Gly334Asp (p.G334D)
(
ENST00000528731.1,
ENST00000339994.5,
ENST00000682764.1,
ENST00000682350.1 )
KCNJ11 p.Gly334Asp (p.G334D) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Developmental Delay, Epilepsy, and Neonatal Diabetes
- Source Database
- DisGeNET
- Description
- An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.
- Pubmed
- 17259376
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
- Year of publication
- 2007
Drugs