Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
0.430 Biomarker phenotype BEFREE Hypoglycemia in sulfonylurea-treated KCNJ11-neonatal diabetes: Mild-moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures. 29205704 2018
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
0.430 GeneticVariation phenotype BEFREE Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation. 25678012 2015
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
0.430 GeneticVariation phenotype BEFREE He had learning difficulties during primary school, and a single episode of seizures at the age of 10 yr. We performed direct DNA sequencing of the KCNJ11 gene with subsequent functional study of mutated channels in COSm6 cells. 22694282 2012
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
0.430 Biomarker phenotype CTD_human The pattern of ATP-sensitive K+ channel subunits, Kir6.2 and SUR1 mRNA expressions in DG region is different from those in CA1-3 regions of chronic epilepsy induced by picrotoxin in rats. 18021373 2007
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
0.430 Biomarker phenotype HPO