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 (disorder)
- Source Database
- DisGeNET
- Description
- Here we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in addition to neonatal diabetes (developmental delay, epilepsy, and neonatal diabetes [DEND]), due to a G334D mutation in the Kir6.2 subunit of K(ATP) channel.
- Pubmed
- 17259376
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
- Year of publication
- 2007
Drugs