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 Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527 2013
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 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 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 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 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 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 Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197 2013
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 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 CausalMutation disease CLINVAR 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 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 Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. 12524280 2003
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 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: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism. 23067144 2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. 21378087 2011
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 CausalMutation disease CLINVAR Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes. 20943781 2011
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 CausalMutation disease CLINVAR Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. 24401662 2014
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism. 14764815 2004
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672 2010
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 CausalMutation disease CLINVAR Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405 2006
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627 2007
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 CausalMutation disease CLINVAR Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue. 17575084 2007
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel. 22855730 2012
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR Familial focal congenital hyperinsulinism. 20943779 2011