Gene: ABCC8 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR Clinical and genetic characterization of congenital hyperinsulinism in Spain. 27188453 2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations. 27573238 2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. 26180531 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197 2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. 24616771 2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527 2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation 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 		0.500 CausalMutation disease CLINVAR Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia. 24145932 2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. 21716120 2011
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672 2010
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR Role of Hsp90 in biogenesis of the beta-cell ATP-sensitive potassium channel complex. 20427569 2010
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations. 18988933 2008
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627 2007
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies. 17466004 2007
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 16357843 2006
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report. 16969006 2006
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 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 		0.500 CausalMutation disease CLINVAR Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism. 16186397 2005
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 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 		0.500 CausalMutation 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 		0.500 CausalMutation 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 		0.500 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 		0.500 CausalMutation disease CLINVAR Genetic heterogeneity in familial hyperinsulinism. 9618169 1998
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. 8923011 1996
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.500 CausalMutation disease CLINVAR Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. 7716548 1995