Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
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
dbSNP: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
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
dbSNP: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 GeneticVariation UNIPROT Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 16357843

2006
dbSNP: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 GeneticVariation UNIPROT Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405

2006
dbSNP: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		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: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 GeneticVariation UNIPROT Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781

2004
dbSNP: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		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: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 GeneticVariation UNIPROT Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. 12364426

2002
dbSNP: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		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: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		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: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 GeneticVariation UNIPROT Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. 11018078

2000
dbSNP: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		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: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		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: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 GeneticVariation UNIPROT Clinical features of 52 neonates with hyperinsulinism. 10202168

1999
dbSNP: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 GeneticVariation UNIPROT Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. 9648840

1998
dbSNP: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		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: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 GeneticVariation UNIPROT Genetic heterogeneity in familial hyperinsulinism. 9618169

1998
dbSNP: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 GeneticVariation UNIPROT Adenosine diphosphate as an intracellular regulator of insulin secretion. 8650576

1996
dbSNP: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		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: rs72559715
rs72559715
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 GeneticVariation UNIPROT Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. 8923011

1996