Disease: DEND syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356616
rs80356616
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C4303593
Disease:
DEND syndrome 		0.010 GeneticVariation BEFREE The patient with the V59M mutation successfully switched from insulin injections to oral glibenclamide; 2 years of follow-up revealed that the patient had intermediate developmental delay, epilepsy and neonatal diabetes (DEND) syndrome. 22145471 2011