rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
24814349
2015
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
25720052
2015
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.
16357843
2006
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
16429405
2006
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
15562009
2005
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
15579781
2004
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.
12941782
2003
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.
12364426
2002
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.
11867634
2002
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.
11226335
2001
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.
10615958
2000
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.
11018078
2000
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Clinical features of 52 neonates with hyperinsulinism.
10202168
1999
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.
10334322
1999
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Genetic heterogeneity in familial hyperinsulinism.
9618169
1998
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
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
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
9648840
1998
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Adenosine diphosphate as an intracellular regulator of insulin secretion.
8650576
1996
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.
8923011
1996
rs72559727
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Hyperinsulinemic hypoglycemia, familial, 1
0.700
GeneticVariation
UNIPROT
Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.
8751851
1996