Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72559716
rs72559716
ABCC8
T 0.800 CausalMutation CLINVAR Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia. 30352420

2018
dbSNP: rs72559716
rs72559716
ABCC8
0.800 GeneticVariation UNIPROT Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. 24814349

2015
dbSNP: rs72559716
rs72559716
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: rs72559716
rs72559716
ABCC8
T 0.800 CausalMutation CLINVAR Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. 24616771

2013
dbSNP: rs72559716
rs72559716
ABCC8
T 0.800 CausalMutation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs72559716
rs72559716
ABCC8
T 0.800 CausalMutation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs72559716
rs72559716
ABCC8
T 0.800 CausalMutation CLINVAR Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations. 18988933

2008
dbSNP: rs72559716
rs72559716
ABCC8
T 0.800 CausalMutation CLINVAR Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies. 17466004

2007
dbSNP: rs72559716
rs72559716
ABCC8
T 0.800 CausalMutation CLINVAR Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627

2007
dbSNP: rs72559716
rs72559716
ABCC8
0.800 GeneticVariation UNIPROT Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 16357843

2006
dbSNP: rs72559716
rs72559716
ABCC8
0.800 GeneticVariation UNIPROT Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405

2006
dbSNP: rs72559716
rs72559716
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: rs72559716
rs72559716
ABCC8
T 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009

2005
dbSNP: rs72559716
rs72559716
ABCC8
T 0.800 CausalMutation CLINVAR Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism. 14764815

2004
dbSNP: rs72559716
rs72559716
ABCC8
0.800 GeneticVariation UNIPROT Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781

2004
dbSNP: rs72559716
rs72559716
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: rs72559716
rs72559716
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: rs72559716
rs72559716
ABCC8
0.800 GeneticVariation UNIPROT Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. 12364426

2002
dbSNP: rs72559716
rs72559716
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: rs72559716
rs72559716
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: rs72559716
rs72559716
ABCC8
0.800 GeneticVariation UNIPROT Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. 11018078

2000
dbSNP: rs72559716
rs72559716
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: rs72559716
rs72559716
ABCC8
0.800 GeneticVariation UNIPROT Clinical features of 52 neonates with hyperinsulinism. 10202168

1999
dbSNP: rs72559716
rs72559716
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: rs72559716
rs72559716
ABCC8
0.800 GeneticVariation UNIPROT Genetic heterogeneity in familial hyperinsulinism. 9618169

1998