Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Gly53Asp (p.G53D)
(
ENST00000528731.1,
ENST00000682764.1,
ENST00000682350.1,
ENST00000339994.5 )
KCNJ11 p.Gly53Asp (p.G53D) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Developmental Delay, Epilepsy, and Neonatal Diabetes
- Source Database
- DisGeNET
- Description
- The objective of the study was to determine the molecular basis of intermediate DEND in a 27-yr-old patient with a KCNJ11 mutation (G53D) and the patient's response to SU therapy.
- Pubmed
- 18073297
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
- Year of publication
- 2008
Drugs