DisGeNET - a database of gene-disease associations

Hyperinsulinemic hypoglycemia, familial, 1, C2931832

Variant: rs372307320 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs372307320

ABCC8

0.800

GeneticVariation

CLINVAR

Functional and Metabolomic Consequences of K_ATP Channel Inactivation in Human Islets.

28442472

2017

dbSNP:

rs372307320

ABCC8

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

dbSNP:

rs372307320

ABCC8

0.800

GeneticVariation

UNIPROT

Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.

24814349

2015

dbSNP:

rs372307320

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:

rs372307320

ABCC8

0.800

GeneticVariation

CLINVAR

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

23275527

2013

dbSNP:

rs372307320

ABCC8

0.800

GeneticVariation

CLINVAR

Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.

17575084

2007

dbSNP:

rs372307320

ABCC8

0.800

GeneticVariation

UNIPROT

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.

16357843

2006

dbSNP:

rs372307320

ABCC8

0.800

GeneticVariation

UNIPROT

Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

16429405

2006

dbSNP:

rs372307320

ABCC8

0.800

GeneticVariation

CLINVAR

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

15562009

2005

dbSNP:

rs372307320

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:

rs372307320

ABCC8

0.800

GeneticVariation

UNIPROT

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

15579781

2004

dbSNP:

rs372307320

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:

rs372307320

ABCC8

0.800

GeneticVariation

UNIPROT

Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.

12364426

2002

dbSNP:

rs372307320

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:

rs372307320

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:

rs372307320

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:

rs372307320

ABCC8

0.800

GeneticVariation

UNIPROT

Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

11018078

2000

dbSNP:

rs372307320

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:

rs372307320

ABCC8

0.800

GeneticVariation

UNIPROT

Clinical features of 52 neonates with hyperinsulinism.

10202168

1999

dbSNP:

rs372307320

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:

rs372307320

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:

rs372307320

ABCC8

0.800

GeneticVariation

UNIPROT

Genetic heterogeneity in familial hyperinsulinism.

9618169

1998

dbSNP:

rs372307320

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:

rs372307320

ABCC8

0.800

GeneticVariation

UNIPROT

Adenosine diphosphate as an intracellular regulator of insulin secretion.

8650576

1996

dbSNP:

rs372307320

ABCC8

0.800

GeneticVariation

UNIPROT

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

8923011

1996