Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894237
rs104894237
KCNJ11
0.800 GeneticVariation UNIPROT Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism. 19357197

2009
dbSNP: rs104894237
rs104894237
KCNJ11
0.800 GeneticVariation UNIPROT Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. 18596924

2008
dbSNP: rs104894237
rs104894237
KCNJ11
0.800 GeneticVariation UNIPROT Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 16357843

2006
dbSNP: rs104894237
rs104894237
KCNJ11
0.800 GeneticVariation UNIPROT A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. 16332676

2006
dbSNP: rs104894237
rs104894237
KCNJ11
0.800 GeneticVariation UNIPROT Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009

2005
dbSNP: rs104894237
rs104894237
KCNJ11
0.800 GeneticVariation UNIPROT Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function. 15998776

2005
dbSNP: rs104894237
rs104894237
KCNJ11
0.800 GeneticVariation UNIPROT Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy. 15807877

2005
dbSNP: rs104894237
rs104894237
KCNJ11
0.800 GeneticVariation UNIPROT Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781

2004
dbSNP: rs104894237
rs104894237
KCNJ11
0.800 GeneticVariation UNIPROT Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. 12364426

2002
dbSNP: rs104894237
rs104894237
KCNJ11
0.800 GeneticVariation UNIPROT Molecular biology of adenosine triphosphate-sensitive potassium channels. 10204114

1999
dbSNP: rs104894237
rs104894237
KCNJ11
0.800 GeneticVariation UNIPROT Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. 8923010

1996
dbSNP: rs104894237
rs104894237
KCNJ11
0.800 GeneticVariation UNIPROT Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. 7847376

1995
dbSNP: rs104894237
rs104894237
KCNJ11
A 0.800 CausalMutation CLINVAR