Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052

2015
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. 24814349

2015
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405

2006
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 16357843

2006
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009

2005
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781

2004
dbSNP: rs28936370
rs28936370
ABCC8
0.800 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
dbSNP: rs28936370
rs28936370
ABCC8
0.800 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
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. 12364426

2002
dbSNP: rs28936370
rs28936370
ABCC8
0.800 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
dbSNP: rs28936370
rs28936370
ABCC8
0.800 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
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. 11018078

2000
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Clinical features of 52 neonates with hyperinsulinism. 10202168

1999
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. 10334322

1999
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Genetic heterogeneity in familial hyperinsulinism. 9618169

1998
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. 9648840

1998
dbSNP: rs28936370
rs28936370
ABCC8
0.800 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
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Adenosine diphosphate as an intracellular regulator of insulin secretion. 8650576

1996
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. 8751851

1996
dbSNP: rs28936370
rs28936370
ABCC8
0.800 GeneticVariation UNIPROT Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. 8923011

1996
dbSNP: rs28936370
rs28936370
ABCC8
G 0.800 CausalMutation CLINVAR