Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Val59Gly (p.V59G)
(
ENST00000528731.1,
ENST00000682350.1,
ENST00000682764.1,
ENST00000339994.5 )
KCNJ11 p.Val59Gly (p.V59G) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- DIABETES MELLITUS, PERMANENT NEONATAL
- Source Database
- DisGeNET
- Description
- We have verified a lack of clinical response for both glycemic control and neurological features in an infant with permanent neonatal diabetes mellitus and DEND syndrome due to a V59A mutation in the KCNJ11 gene.
- Pubmed
- 23382304
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.56868613990657
- Year of publication
- 2013
Drugs