Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. 26180531 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 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 		0.700 GeneticVariation disease UNIPROT 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 		0.700 GeneticVariation disease CLINVAR ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. 12199344 2003
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 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 		0.700 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 		0.700 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 		0.700 GeneticVariation disease CLINVAR ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes. 26246406 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		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 		0.700 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 		0.700 GeneticVariation disease UNIPROT Adenosine diphosphate as an intracellular regulator of insulin secretion. 8650576 1996
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 CausalMutation disease CLINVAR Altered Phenotype of β-Cells and Other Pancreatic Cell Lineages in Patients With Diffuse Congenital Hyperinsulinism in Infancy Caused by Mutations in the ATP-Sensitive K-Channel. 25931474 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease UNIPROT Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 CausalMutation disease CLINVAR Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia. 30352420 2018
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Carbamazepine as a novel small molecule corrector of trafficking-impaired ATP-sensitive potassium channels identified in congenital hyperinsulinism. 23744072 2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 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 		0.700 GeneticVariation 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 		0.700 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 		0.700 GeneticVariation 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 		0.700 GeneticVariation disease 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 		0.700 GeneticVariation disease CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197 2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 CausalMutation disease CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197 2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease UNIPROT Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. 12941782 2003