Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease CLINVAR Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 27908292 2016
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527 2013
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197 2013
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease CLINVAR Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels. 22311976 2012
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease CLINVAR Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011. 21812132 2011
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease CLINVAR Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. 21422196 2011
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672 2010
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease UNIPROT Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism. 19357197 2009
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease CLINVAR Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. 18250167 2008
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease UNIPROT Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. 18596924 2008
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease CLINVAR Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. 17446535 2007
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease UNIPROT Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 16357843 2006
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease UNIPROT A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. 16332676 2006
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease CLINVAR Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009 2005
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease 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
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease UNIPROT Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009 2005
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease UNIPROT Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy. 15807877 2005
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 Biomarker disease CTD_human Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781 2004
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease UNIPROT Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781 2004
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease CLINVAR Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. 12524280 2003
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease UNIPROT Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. 12364426 2002
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease CLINVAR Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. 11395395 2001
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease UNIPROT Molecular biology of adenosine triphosphate-sensitive potassium channels. 10204114 1999
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 GeneticVariation disease UNIPROT Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. 8923010 1996
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.700 CausalMutation disease CLINVAR Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. 8923010 1996