DisGeNET - a database of gene-disease associations

Congenital Hyperinsulinism, C3888018

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

0.700

CausalMutation

CLINVAR

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

27573238

2016

dbSNP:

rs200670692

ABCC8

0.700

CausalMutation

CLINVAR

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

23275527

2013

dbSNP:

rs200670692

ABCC8

0.700

CausalMutation

CLINVAR

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

23345197

2013

dbSNP:

rs200670692

ABCC8

0.700

CausalMutation

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

0.700

CausalMutation

CLINVAR

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

20685672

2010

dbSNP:

rs200670692

ABCC8

0.700

CausalMutation

CLINVAR

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

16357843

2006