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:

rs2725211

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0018099
Disease:

Gout

0.800

GeneticVariation

GWASCAT

Integrative Genome-Wide Association Studies of eQTL and GWAS Data for Gout Disease Susceptibility.

30899057

2019

dbSNP:

rs2725211

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.800

GeneticVariation

GWASCAT

Integrative Genome-Wide Association Studies of eQTL and GWAS Data for Gout Disease Susceptibility.

30899057

2019

dbSNP:

rs121918043

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels.

29899465

2018

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels.

29899465

2018

dbSNP:

rs2728099

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0202239
Disease:

Uric acid measurement (procedure)

0.800

GeneticVariation

GWASCAT

ABCG2 Polymorphism Is Associated with Hyperuricemia in a Study of a Community-Based Korean Cohort.

28776340

2017

dbSNP:

rs2728104

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.800

GeneticVariation

GWASCAT

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

27899376

2017

dbSNP:

rs2728104

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0018099
Disease:

Gout

0.800

GeneticVariation

GWASCAT

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

27899376

2017

dbSNP:

rs121918043

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

The polycystin complex mediates Wnt/Ca(2+) signalling.

27214281

2016

dbSNP:

rs121918043

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant.

27071085

2016

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

The polycystin complex mediates Wnt/Ca(2+) signalling.

27214281

2016

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant.

27071085

2016

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:	C0003868
Disease:

Arthritis, Gouty

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:	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:

rs2725220

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0202239
Disease:

Uric acid measurement (procedure)

0.800

GeneticVariation

GWASCAT

Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.

22797727

2012

dbSNP:

rs2725220

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0202239
Disease:

Uric acid measurement (procedure)

0.800

GeneticVariation

GWASDB

Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.

22797727

2012

dbSNP:

rs121918043

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).

21115670

2011

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).

21115670

2011

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:	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:	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

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:	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

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

20884846

2010