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 Biomarker disease GENOMICS_ENGLAND
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: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 Biomarker disease CTD_human A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. 10334322 1999
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR A universally conserved residue in the SUR1 subunit of the KATP channel is essential for translating nucleotide binding at SUR1 into channel opening. 22802590 2012
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: 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 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 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 UNIPROT Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. 12364426 2002
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 Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations. 18988933 2008
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: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. 21422196 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 Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. 25201519 2014
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: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197 2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 CausalMutation 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 UNIPROT Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. 18596924 2008
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR Clinical features of 52 neonates with hyperinsulinism. 10202168 1999
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies. 17466004 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 CausalMutation disease CLINVAR Congenital hyperinsulinism. 25323548 2014
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR Congenital hyperinsulinism: molecular basis of a heterogeneous disease. 10338089 1999
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