rs80356616, KCNJ11

N. diseases: 19
Disease: DEND syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DEND syndrome
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