DisGeNET - a database of gene-disease associations

SLCO2A1, solute carrier organic anion transporter family member 2A1, 6578

N. diseases: 112; N. variants: 20

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:

rs387906806

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy.

22197487

2012

dbSNP:

rs387906806

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

GeneticVariation

UNIPROT

Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing.

22331663

2012

dbSNP:

rs387906806

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

GeneticVariation

UNIPROT

Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing.

22696055

2012

dbSNP:

rs387906806

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

GeneticVariation

UNIPROT

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.

22553128

2012

dbSNP:

rs774795340

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy.

22197487

2012

dbSNP:

rs774795340

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

GeneticVariation

UNIPROT

Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing.

22696055

2012

dbSNP:

rs774795340

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

GeneticVariation

UNIPROT

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.

22553128

2012

dbSNP:

rs774795340

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

GeneticVariation

UNIPROT

Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing.

22331663

2012

dbSNP:

rs387906806

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907295

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907295

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

GeneticVariation

UNIPROT

dbSNP:

rs387907296

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

GeneticVariation

UNIPROT

dbSNP:

rs387907296

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs774795340

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3280800
Disease:

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs9832989

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C0600139
Disease:

Prostate carcinoma

0.700

GeneticVariation

GWASCAT

Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy.

31095341

2020

dbSNP:

rs10049390

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C2677123
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

GWASCAT

Discovery of common and rare genetic risk variants for colorectal cancer.

30510241

2019

dbSNP:

rs10049390

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C0009404
Disease:

Colorectal Neoplasms

0.700

GeneticVariation

GWASCAT

Discovery of common and rare genetic risk variants for colorectal cancer.

30510241

2019

dbSNP:

rs10049390

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C3554460
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.700

GeneticVariation

GWASCAT

Discovery of common and rare genetic risk variants for colorectal cancer.

30510241

2019

dbSNP:

rs10049390

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C1302401
Disease:

Adenoma of large intestine

0.700

GeneticVariation

GWASCAT

Discovery of common and rare genetic risk variants for colorectal cancer.

30510241

2019

dbSNP:

rs10049390

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C1837315
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 1

0.700

GeneticVariation

GWASCAT

Discovery of common and rare genetic risk variants for colorectal cancer.

30510241

2019

dbSNP:

rs10049390

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C0009402
Disease:

Colorectal Carcinoma

0.700

GeneticVariation

GWASCAT

Discovery of common and rare genetic risk variants for colorectal cancer.

30510241

2019

dbSNP:

rs10049390

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C0346629
Disease:

Malignant neoplasm of large intestine

0.700

GeneticVariation

GWASCAT

Discovery of common and rare genetic risk variants for colorectal cancer.

30510241

2019

dbSNP:

rs10049390

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.700

GeneticVariation

GWASCAT

Discovery of common and rare genetic risk variants for colorectal cancer.

30510241

2019

dbSNP:

rs10049390

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C0007102
Disease:

Malignant tumor of colon

0.700

GeneticVariation

GWASCAT

Discovery of common and rare genetic risk variants for colorectal cancer.

30510241

2019

dbSNP:

rs10049390

Entrez Id:	6578
Gene Symbol:	SLCO2A1

SLCO2A1

CUI:	C1319315
Disease:

Adenocarcinoma of large intestine

0.700

GeneticVariation

GWASCAT

Discovery of common and rare genetic risk variants for colorectal cancer.

30510241

2019