DisGeNET - a database of gene-disease associations

ABCG8, ATP binding cassette subfamily G member 8, 64241

N. diseases: 8; N. variants: 10

Source: GWASCAT ×

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:

rs4245791

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetically regulated gene expression underlies lipid traits in Hispanic cohorts.

31393916

2019

dbSNP:

rs4245791

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs4299376

Entrez Id:	64241;102725159
Gene Symbol:	ABCG8;LOC102725159

ABCG8;LOC102725159

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs4299376

Entrez Id:	64241;102725159
Gene Symbol:	ABCG8;LOC102725159

ABCG8;LOC102725159

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019

dbSNP:

rs4299376

Entrez Id:	64241;102725159
Gene Symbol:	ABCG8;LOC102725159

ABCG8;LOC102725159

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

30926973

2019

dbSNP:

rs4299376

Entrez Id:	64241;102725159
Gene Symbol:	ABCG8;LOC102725159

ABCG8;LOC102725159

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs4299376

Entrez Id:	64241;102725159
Gene Symbol:	ABCG8;LOC102725159

ABCG8;LOC102725159

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

30670697

2019

dbSNP:

rs4953023

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs4953023

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs6544713

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs6544713

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

30926973

2019

dbSNP:

rs6544713

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs4245791

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

30275531

2018

dbSNP:

rs4299376

Entrez Id:	64241;102725159
Gene Symbol:	ABCG8;LOC102725159

ABCG8;LOC102725159

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

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

29507422

2018

dbSNP:

rs4299376

Entrez Id:	64241;102725159
Gene Symbol:	ABCG8;LOC102725159

ABCG8;LOC102725159

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

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

29507422

2018

dbSNP:

rs4953023

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

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

29507422

2018

dbSNP:

rs4953023

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

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

29507422

2018

dbSNP:

rs6544713

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C1956346
Disease:

Coronary Artery Disease

0.800

GeneticVariation

GWASCAT

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

29212778

2018

dbSNP:

rs4299376

Entrez Id:	64241;102725159
Gene Symbol:	ABCG8;LOC102725159

ABCG8;LOC102725159

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs4299376

Entrez Id:	64241;102725159
Gene Symbol:	ABCG8;LOC102725159

ABCG8;LOC102725159

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs4299376

Entrez Id:	64241;102725159
Gene Symbol:	ABCG8;LOC102725159

ABCG8;LOC102725159

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Biological, clinical and population relevance of 95 loci for blood lipids.

20686565

2010

dbSNP:

rs4299376

Entrez Id:	64241;102725159
Gene Symbol:	ABCG8;LOC102725159

ABCG8;LOC102725159

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Biological, clinical and population relevance of 95 loci for blood lipids.

20686565

2010

dbSNP:

rs6544713

Entrez Id:	64241
Gene Symbol:	ABCG8

ABCG8

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Common variants at 30 loci contribute to polygenic dyslipidemia.

19060906

2009

dbSNP:

rs6756629

Entrez Id:	64240;64241
Gene Symbol:	ABCG5;ABCG8

ABCG5;ABCG8

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

19060911

2009

dbSNP:

rs6756629

Entrez Id:	64240;64241
Gene Symbol:	ABCG5;ABCG8

ABCG5;ABCG8

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

19060911

2009