×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
CausalMutation
CLINVAR
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.
30352420
2018
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
CLINVAR
Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets.
28442472
2017
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
CLINVAR
Neonatal Diabetes: A Case Series.
27889714
2017
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
CLINVAR
mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success.
27691052
2016
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
CLINVAR
Clinical whole exome sequencing in early onset diabetes patients.
27810688
2016
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
CLINVAR
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
26545876
2016
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
CausalMutation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
CLINVAR
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.
26268944
2015
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
CausalMutation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
CLINVAR
Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds.
25781672
2015
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
CLINVAR
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.
26180531
2015
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
CausalMutation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
CLINVAR
Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia.
25117148
2014
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
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
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
CLINVAR
Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy.
25584046
2014