DisGeNET - a database of gene-disease associations

Hyperinsulinemic hypoglycemia, familial, 1, C2931832

Variant: rs200670692 ×

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:

rs200670692

ABCC8

0.800

GeneticVariation

CLINVAR

Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.

27573238

2016

dbSNP:

rs200670692

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:

rs200670692

ABCC8

0.800

GeneticVariation

UNIPROT

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

24814349

2015

dbSNP:

rs200670692

ABCC8

0.800

GeneticVariation

CLINVAR

Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism.

23067144

2013

dbSNP:

rs200670692

ABCC8

0.800

GeneticVariation

CLINVAR

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

23275527

2013

dbSNP:

rs200670692

ABCC8

0.800

GeneticVariation

CLINVAR

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

23345197

2013

dbSNP:

rs200670692

ABCC8

0.800

GeneticVariation

CLINVAR

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

20685672

2010

dbSNP:

rs200670692

ABCC8

0.800

GeneticVariation

CLINVAR

The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.

19475716

2009

dbSNP:

rs200670692

ABCC8

0.800

GeneticVariation

UNIPROT

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

16357843

2006

dbSNP:

rs200670692

ABCC8

0.800

GeneticVariation

UNIPROT

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

16429405

2006

dbSNP:

rs200670692

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:

rs200670692

ABCC8

0.800

GeneticVariation

UNIPROT

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

15579781

2004

dbSNP:

rs200670692

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:

rs200670692

ABCC8

0.800

GeneticVariation

UNIPROT

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

12364426

2002

dbSNP:

rs200670692

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:

rs200670692

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:

rs200670692

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:

rs200670692

ABCC8

0.800

GeneticVariation

UNIPROT

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

11018078

2000

dbSNP:

rs200670692

ABCC8

0.800

GeneticVariation

UNIPROT

Clinical features of 52 neonates with hyperinsulinism.

10202168

1999

dbSNP:

rs200670692

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:

rs200670692

ABCC8

0.800

GeneticVariation

UNIPROT

Genetic heterogeneity in familial hyperinsulinism.

9618169

1998

dbSNP:

rs200670692

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:

rs200670692

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:

rs200670692

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: