×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.700
CausalMutation
disease
CLINVAR
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
23275527
2013
×
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
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
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
CausalMutation
disease
CLINVAR
Clinical features of 52 neonates with hyperinsulinism.
10202168
1999
×
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
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
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
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
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
Biomarker
disease
GENOMICS_ENGLAND
×
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
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
CausalMutation
disease
CLINVAR
Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.
24616771
2013
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.700
CausalMutation
disease
CLINVAR
Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.
17378627
2007
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.700
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
0.700
CausalMutation
disease
CLINVAR
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.
11226335
2001
×
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
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