DisGeNET - a database of gene-disease associations

Hyperinsulinemic hypoglycemia, familial, 1, C2931832

Variant: rs139964066 ×

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:

rs139964066

ABCC8

0.800

GeneticVariation

CLINVAR

Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center.

27682711

2016

dbSNP:

rs139964066

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:

rs139964066

ABCC8

0.800

GeneticVariation

CLINVAR

A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.

26180531

2015

dbSNP:

rs139964066

ABCC8

0.800

GeneticVariation

CLINVAR

Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds.

25781672

2015

dbSNP:

rs139964066

ABCC8

0.800

GeneticVariation

UNIPROT

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

24814349

2015

dbSNP:

rs139964066

ABCC8

0.800

GeneticVariation

CLINVAR

Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.

24401662

2014

dbSNP:

rs139964066

ABCC8

0.800

GeneticVariation

CLINVAR

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

23345197

2013

dbSNP:

rs139964066

ABCC8

0.800

GeneticVariation

CLINVAR

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

23275527

2013

dbSNP:

rs139964066

ABCC8

0.800

GeneticVariation

CLINVAR

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

23771172

2013

dbSNP:

rs139964066

ABCC8

0.800

GeneticVariation

CLINVAR

Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia.

24145932

2013

dbSNP:

rs139964066

ABCC8

0.800

GeneticVariation

CLINVAR

Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report.

16969006

2006

dbSNP:

rs139964066

ABCC8

0.800

GeneticVariation

UNIPROT

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

16357843

2006

dbSNP:

rs139964066

ABCC8

0.800

GeneticVariation

UNIPROT

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

16429405

2006

dbSNP:

rs139964066

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:

rs139964066

ABCC8

0.800

GeneticVariation

UNIPROT

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

15579781

2004

dbSNP:

rs139964066

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:

rs139964066

ABCC8

0.800

GeneticVariation

UNIPROT

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

12364426

2002

dbSNP:

rs139964066

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:

rs139964066

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:

rs139964066

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:

rs139964066

ABCC8

0.800

GeneticVariation

UNIPROT

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

11018078

2000

dbSNP:

rs139964066

ABCC8

0.800

GeneticVariation

UNIPROT

Clinical features of 52 neonates with hyperinsulinism.

10202168

1999

dbSNP:

rs139964066

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:

rs139964066

ABCC8

0.800

GeneticVariation

UNIPROT

Genetic heterogeneity in familial hyperinsulinism.

9618169

1998

dbSNP:

rs139964066

ABCC8

0.800

GeneticVariation

UNIPROT

Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.

9648840

1998