×
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
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
Neonatal Diabetes: A Case Series.
27889714
2017
×
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
CLINVAR
Clinical whole exome sequencing in early onset diabetes patients.
27810688
2016
×
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
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
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
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
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
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.
26268944
2015
×
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
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
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
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
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
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
GeneticVariation
disease
UNIPROT
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
24814349
2015
×
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:
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
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
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
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
Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism.
25008049
2014