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 CausalMutation disease 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 		0.700 GeneticVariation disease CLINVAR Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. 26740944 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. 11395395 2001
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism. 25765446 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. 19475716 2009
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 CausalMutation disease CLINVAR The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. 19475716 2009
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR The C terminus of SUR1 is required for trafficking of KATP channels. 10400694 1999
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure. 19151370 2009
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds. 25781672 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. 24645945 2014
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. 25518065 2015
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.300 Biomarker disease CTD_human Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. 15277402 2004
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism. 16186397 2005
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Rapid genetic analysis, imaging with 18F-DOPA-PET/CT scan and laparoscopic surgery in congenital hyperinsulinism. 20432820 2010
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 CausalMutation disease CLINVAR Protein-sensitive hypoglycemia without leucine sensitivity in hyperinsulinism caused by K(ATP) channel mutations. 16860127 2006
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 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 		0.700 GeneticVariation disease CLINVAR Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report. 16969006 2006
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Potassium channel regulation. 14593442 2003
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation 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 		0.700 GeneticVariation disease CLINVAR Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. 17668386 2007
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 CausalMutation disease CLINVAR Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. 24616771 2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease UNIPROT Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. 9769320 1998
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 CausalMutation disease CLINVAR Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. 9769320 1998
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. 25117148 2014