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:

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:

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:

rs121918043

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.

15772804

2005

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.

15772804

2005

dbSNP:

rs121918043

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.

14993477

2004

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.

14993477

2004

dbSNP:

rs121918043

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:

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:

rs121918043

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Polycystin-2 is an intracellular calcium release channel.

11854751

2002

dbSNP:

rs121918043

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.

11968093

2002

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Polycystin-2 is an intracellular calcium release channel.

11854751

2002

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.

11968093

2002

dbSNP:

rs121918043

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

10835625

2000

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

10835625

2000

dbSNP:

rs121918043

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.

10411676

1999

dbSNP:

rs121918043

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.

10541293

1999

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.

10411676

1999

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.

10541293

1999

dbSNP:

rs121918043

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

9326320

1997

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

GeneticVariation

UNIPROT

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

9326320

1997

dbSNP:

rs121918043

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C2751306
Disease:

Polycystic kidney disease, type 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553925453

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0085413
Disease:

Polycystic Kidney, Autosomal Dominant

0.700

CausalMutation

CLINVAR

PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.

28356211

2017

dbSNP:

rs2725207

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

CUI:	C0678222
Disease:

Breast Carcinoma

0.700

GeneticVariation

GWASCAT

Association analysis identifies 65 new breast cancer risk loci.

29059683

2017