Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. 27682711

2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation 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
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Occurrence of giant focal forms of congenital hyperinsulinism with incorrect visualization by (18) F DOPA-PET/CT scanning. 24750227

2014
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation CLINVAR Congenital hyperinsulinism. 25323548

2014
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. 25117148

2014
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. 25201519

2014
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation 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
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Genetic analysis of Italian patients with congenital hyperinsulinism of infancy. 23652837

2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation 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
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation 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: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation 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
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation 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
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Familial focal congenital hyperinsulinism. 20943779

2011
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy. 21411514

2011
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation 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
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains. 20799350

2010
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. 19475716

2009
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. 18767144

2009
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism. 18073294

2008