DisGeNET - a database of gene-disease associations

ABCG8, ATP binding cassette subfamily G member 8, 64241

N. diseases: 116; N. variants: 35

Disease: Serum total cholesterol measurement ×

Variant: rs76866386 ×

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:

rs76866386

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.700

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs76866386

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.700

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs76866386

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.700

GeneticVariation

GWASCAT

The impact of low-frequency and rare variants on lipid levels.

25961943

2015