DisGeNET - a database of gene-disease associations

ABCG2, ATP binding cassette subfamily G member 2 (Junior blood group), 9429

N. diseases: 420; N. variants: 68

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:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0018099
Disease:

Gout

0.820

GeneticVariation

GWASCAT

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

31578528

2019

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0018099
Disease:

Gout

0.820

GeneticVariation

GWASCAT

Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol.

30924126

2019

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0018099
Disease:

Gout

0.820

GeneticVariation

BEFREE

ABCG2 rs2231142 may predict the risk of kidney comorbidities for Chinese Han male gout patients, but not allopurinol response.

31367212

2019

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0018099
Disease:

Gout

0.820

GeneticVariation

GWASCAT

ABCG2 contributes to the development of gout and hyperuricemia in a genome-wide association study.

29453348

2018

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0018099
Disease:

Gout

0.820

GeneticVariation

BEFREE

The p.Q141K (rs2231142) variant had a significantly higher minor allele frequency (0.23) in the gout patients compared with the European-origin population (0.09) and was significantly more common among gout patients than among normouricaemic controls (odds ratio = 3.26, P < 0.0001).

28968913

2017

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0018099
Disease:

Gout

0.820

GeneticVariation

GWASCAT

Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese.

25967671

2015

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0018099
Disease:

Gout

0.820

GeneticVariation

GWASCAT

Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response.

25676789

2015

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0018099
Disease:

Gout

0.820

GeneticVariation

GWASDB

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

23263486

2013

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0018099
Disease:

Gout

0.820

GeneticVariation

GWASDB

Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

21768215

2011

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0018099
Disease:

Gout

0.820

GeneticVariation

GWASCAT

Identification of low-frequency variants associated with gout and serum uric acid levels.

21983786

2011

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0018099
Disease:

Gout

0.820

GeneticVariation

GWASDB

Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

20884846

2010

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0018099
Disease:

Gout

0.820

GeneticVariation

GWASDB

Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.

18834626

2008

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.810

GeneticVariation

BEFREE

One common ATP-binding cassette subfamily G member 2 (ABCG2) gene variant, which is encoded by the single nucleotide polymorphism (SNP) rs2231142, was identified to take an essential part in gouty arthritis.

31367212

2019

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.810

GeneticVariation

GWASCAT

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

31578528

2019

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.810

GeneticVariation

GWASCAT

Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol.

30924126

2019

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.810

GeneticVariation

GWASCAT

ABCG2 contributes to the development of gout and hyperuricemia in a genome-wide association study.

29453348

2018

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.810

GeneticVariation

GWASCAT

Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response.

25676789

2015

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.810

GeneticVariation

GWASCAT

Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese.

25967671

2015

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.810

GeneticVariation

GWASDB

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

23263486

2013

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.810

GeneticVariation

GWASCAT

Identification of low-frequency variants associated with gout and serum uric acid levels.

21983786

2011

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.810

GeneticVariation

GWASDB

Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

21768215

2011

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.810

GeneticVariation

GWASDB

Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

20884846

2010

dbSNP:

rs2231142

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.810

GeneticVariation

GWASDB

Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.

18834626

2008

dbSNP:

rs1481012

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0202239
Disease:

Uric acid measurement (procedure)

0.800

GeneticVariation

GWASCAT

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

31578528

2019

dbSNP:

rs2054576

Entrez Id:	9429
Gene Symbol:	ABCG2

ABCG2

CUI:	C0202239
Disease:

Uric acid measurement (procedure)

0.800

GeneticVariation

GWASCAT

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

31578528

2019