DisGeNET - a database of gene-disease associations

Congenital Hyperinsulinism, C3888018

Variant: rs1057516317 ×

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:

rs1057516317

ABCC8

0.700

CausalMutation

CLINVAR

Clinical and genetic characterization of congenital hyperinsulinism in Spain.

27188453

2016

dbSNP:

rs1057516317

ABCC8

0.700

CausalMutation

CLINVAR

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

23275527

2013

dbSNP:

rs1057516317

ABCC8

0.700

CausalMutation

CLINVAR

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

20685672

2010

dbSNP:

rs1057516317

ABCC8

0.700

CausalMutation

CLINVAR

Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.

17378627

2007

dbSNP:

rs1057516317

ABCC8

0.700

CausalMutation

CLINVAR

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

16429405

2006