DisGeNET - a database of gene-disease associations

PKD2, polycystin 2, transient receptor potential cation channel, 5311

N. diseases: 122; N. variants: 79

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:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

12707387

2003

dbSNP:

rs2725211

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0018099
Disease:

Gout

0.800

GeneticVariation

GWASDB

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

23263486

2013

dbSNP:

rs2725211

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0018099
Disease:

Gout

0.800

GeneticVariation

GWASDB

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

20884846

2010

dbSNP:

rs2725211

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.800

GeneticVariation

GWASDB

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

23263486

2013

dbSNP:

rs2725211

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.800

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:

rs2725211

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.800

GeneticVariation

GWASDB

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

20884846

2010

dbSNP:

rs2725211

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0018099
Disease:

Gout

0.800

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:

rs2728099

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0202239
Disease:

Uric acid measurement (procedure)

0.800

GeneticVariation

GWASDB

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

19503597

2009

dbSNP:

rs2728104

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.800

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:

rs2728104

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0018099
Disease:

Gout

0.800

GeneticVariation

GWASDB

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

20884846

2010

dbSNP:

rs2728104

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.800

GeneticVariation

GWASDB

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

20884846

2010

dbSNP:

rs2728104

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0018099
Disease:

Gout

0.800

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:

rs2728104

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0018099
Disease:

Gout

0.800

GeneticVariation

GWASDB

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

23263486

2013

dbSNP:

rs2728104

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.800

GeneticVariation

GWASDB

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

23263486

2013

dbSNP:

rs10965

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

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

23263486

2013

dbSNP:

rs10965

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

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

23263486

2013

dbSNP:

rs10965

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

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

20884846

2010

dbSNP:

rs10965

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

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

20884846

2010

dbSNP:

rs11938025

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

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

20884846

2010

dbSNP:

rs11938025

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

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

23263486

2013

dbSNP:

rs11938025

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

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

20884846

2010

dbSNP:

rs11938025

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

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

23263486

2013

dbSNP:

rs12503776

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

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

20884846

2010

dbSNP:

rs12503776

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

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

23263486

2013

dbSNP:

rs12503776

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

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

23263486

2013