DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Hyperinsulinemic hypoglycemia, familial, 1 ×

Variant: rs1564955779 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1564955779

ABCC8

CUI:	C2931832
Disease:	Hyperinsulinemic hypoglycemia, familial, 1

Hyperinsulinemic hypoglycemia, familial, 1

0.700

GeneticVariation

CLINVAR

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

23275527

2013

dbSNP:

rs1564955779

ABCC8

CUI:	C2931832
Disease:	Hyperinsulinemic hypoglycemia, familial, 1

Hyperinsulinemic hypoglycemia, familial, 1

0.700

GeneticVariation

CLINVAR

GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel.

22855730

2012

dbSNP:

rs1564955779

ABCC8

CUI:	C2931832
Disease:	Hyperinsulinemic hypoglycemia, familial, 1

Hyperinsulinemic hypoglycemia, familial, 1

0.700

GeneticVariation

CLINVAR

Genetic heterogeneity in familial hyperinsulinism.

9618169

1998