Gene: ABCC8 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease 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 		0.400 CausalMutation disease CLINVAR Genetic heterogeneity in familial hyperinsulinism. 9618169 1998
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR Genetic heterogeneity in familial hyperinsulinism. 9618169 1998
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 CausalMutation disease 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 		0.400 GeneticVariation disease CLINVAR Congenital hyperinsulinism: molecular basis of a heterogeneous disease. 10338089 1999
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 Clinical features of 52 neonates with hyperinsulinism. 10202168 1999
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease CLINVAR Molecular biology of adenosine triphosphate-sensitive potassium channels. 10204114 1999
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 CausalMutation disease 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 		0.400 GeneticVariation disease CLINVAR Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels. 10720932 2000
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease 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 		0.400 GeneticVariation disease 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 		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 CausalMutation disease CLINVAR Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations. 14692646 2004
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 Biomarker disease CTD_human Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781 2004
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 CausalMutation disease 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 		0.400 GeneticVariation disease CLINVAR Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781 2004
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.400 GeneticVariation disease 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 		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 CausalMutation 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 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 CausalMutation disease 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 		0.400 GeneticVariation disease 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 		0.400 GeneticVariation 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 Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 16357843 2006