DisGeNET - a database of gene-disease associations

ABCC8, ATP binding cassette subfamily C member 8, 6833

N. diseases: 317; N. variants: 213

Disease: Hyperinsulinemic hypoglycemia ×

Variant: rs137852671 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137852671

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1864903
Disease:

Hyperinsulinemic hypoglycemia

0.010

GeneticVariation

BEFREE

Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation.

20042013

2010