rs1048095
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
DIABETES MELLITUS, PERMANENT NEONATAL
0.810
GeneticVariation
UNIPROT
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
17668386
2007
rs1048095
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
DIABETES MELLITUS, PERMANENT NEONATAL
0.810
GeneticVariation
UNIPROT
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.
17213273
2007
rs1048095
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
DIABETES MELLITUS, PERMANENT NEONATAL
0.810
GeneticVariation
BEFREE
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P ) causes permanent neonatal diabetes mellitus (PNDM).
17317760
2007
rs1048095
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
DIABETES MELLITUS, PERMANENT NEONATAL
0.810
GeneticVariation
UNIPROT
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
16885549
2006
rs1048095
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
DIABETES MELLITUS, PERMANENT NEONATAL
0.810
GeneticVariation
UNIPROT
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
16613899
2006
rs1048095
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
DIABETES MELLITUS, PERMANENT NEONATAL
G
0.810
CausalMutation
CLINVAR
rs72559716
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
T
0.800
CausalMutation
CLINVAR
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.
30352420
2018
rs372307320
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
T
0.800
GeneticVariation
CLINVAR
Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets.
28442472
2017
rs139964066
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
A
0.800
GeneticVariation
CLINVAR
Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center.
27682711
2016
rs200670692
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
T
0.800
GeneticVariation
CLINVAR
Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.
27573238
2016
rs372307320
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
T
0.800
GeneticVariation
CLINVAR
Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.
25639667
2016
rs72559734
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
T
0.800
GeneticVariation
CLINVAR
Clinical whole exome sequencing in early onset diabetes patients.
27810688
2016
rs797045213
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
C
0.800
GeneticVariation
CLINVAR
Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.
25639667
2016
rs137852671
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.800
GeneticVariation
UNIPROT
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
24814349
2015
rs137852671
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.800
GeneticVariation
UNIPROT
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
25720052
2015
rs137852672
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.800
GeneticVariation
UNIPROT
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
24814349
2015
rs137852672
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.800
GeneticVariation
UNIPROT
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
25720052
2015
rs139964066
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.800
GeneticVariation
UNIPROT
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
25720052
2015
rs139964066
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
A
0.800
GeneticVariation
CLINVAR
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.
26180531
2015
rs139964066
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
A
0.800
GeneticVariation
CLINVAR
Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds.
25781672
2015
rs139964066
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.800
GeneticVariation
UNIPROT
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
24814349
2015
rs1446306735
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.800
GeneticVariation
UNIPROT
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
25720052
2015
rs1446306735
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.800
GeneticVariation
UNIPROT
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
24814349
2015
rs1446306735
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
T
0.800
GeneticVariation
CLINVAR
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
25720052
2015
rs1554933168
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.800
GeneticVariation
UNIPROT
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
25720052
2015