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 Spectrophotometric determination of quinine, emethine and ephedrine in pharmaceutical preparations with tetrabromophenolphthalein ethyl ester by solvent extraction. 1021286

1976
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation CLINVAR Genetic heterogeneity in familial hyperinsulinism. 9618169

1998
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Genetic heterogeneity in familial hyperinsulinism. 9618169

1998
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation CLINVAR Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. 9648840

1998
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Clinical features of 52 neonates with hyperinsulinism. 10202168

1999
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Molecular biology of adenosine triphosphate-sensitive potassium channels. 10204114

1999
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Congenital hyperinsulinism: molecular basis of a heterogeneous disease. 10338089

1999
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation CLINVAR Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. European Network for Research into Hyperinsulinism in Infancy. 10685980

2000
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. European Network for Research into Hyperinsulinism in Infancy. 10685980

2000
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels. 10720932

2000
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels. 11867634

2002
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation CLINVAR Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations. 14692646

2004
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation CLINVAR Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. 14715863

2004
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. 14715863

2004
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation 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
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation 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
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation 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
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781

2004
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 16357843

2006
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation CLINVAR Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. 16416420

2006
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. 16416420

2006
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 CausalMutation CLINVAR Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405

2006
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405

2006
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. 17236890

2007
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.400 GeneticVariation CLINVAR Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627

2007