Disease: DEND syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193929337
rs193929337
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C4303593
Disease:
DEND syndrome 		0.010 GeneticVariation BEFREE Some mutations in this gene, including p.Q52R, are associated with the developmental delay, epilepsy, neonatal diabetes (DEND) syndrome. 24150202 2014