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 		0.700 GeneticVariation disease CLINVAR mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success. 27691052 2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. 27682711 2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease UNIPROT Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. 8751851 1996
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Clinical whole exome sequencing in early onset diabetes patients. 27810688 2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 16357843 2006
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 27908292 2016
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 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 GeneticVariation disease UNIPROT Genetic heterogeneity in familial hyperinsulinism. 9618169 1998
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 GeneticVariation 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 		0.700 GeneticVariation disease CLINVAR Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. 25117148 2014
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases. 25639667 2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. 26268944 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. 10993895 2000
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism. 25008049 2014
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. 26545876 2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations. 24686051 2014
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 UNIPROT Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. 12941782 2003
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets. 28442472 2017
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation disease CLINVAR N-terminal transmembrane domain of SUR1 controls gating of Kir6.2 by modulating channel sensitivity to PIP2. 21321069 2011
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.700 GeneticVariation 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 		0.700 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 GeneticVariation disease CLINVAR Clinical features of 52 neonates with hyperinsulinism. 10202168 1999