DisGeNET - a database of gene-disease associations

Polycystic Kidney, Autosomal Dominant, C0085413

Gene: PKD2 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918040

PKD2

0.700

CausalMutation

CLINVAR

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

12707387

2003

dbSNP:

rs749004212

PKD2

0.700

CausalMutation

CLINVAR

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

12707387

2003

dbSNP:

rs1553925453

PKD2

0.700

CausalMutation

CLINVAR

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

11968093

2002

dbSNP:

rs1131692280

PKD2

0.700

CausalMutation

CLINVAR

Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.

11007674

2000

dbSNP:

rs749004212

PKD2

0.700

CausalMutation

CLINVAR

Location of mutations within the PKD2 gene influences clinical outcome.

10760080

2000

dbSNP:

rs1187336837

PKD2

0.700

CausalMutation

CLINVAR

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

10411676

1999

dbSNP:

rs749004212

PKD2

0.700

CausalMutation

CLINVAR

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

10541293

1999

dbSNP:

rs121918040

PKD2

0.700

CausalMutation

CLINVAR

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.

8650545

1996

dbSNP:

rs1060503526

PKD2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1232369409

PKD2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1391596181

PKD2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553926509

PKD2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553926905

PKD2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1560592253

PKD2

0.700

CausalMutation

CLINVAR

dbSNP:

rs778235410

PKD2

0.010

GeneticVariation

BEFREE

Here we generated an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of a 63-year-old female ADPKD patient carrying an R803X mutation in the PKD2 gene using the Sendai-virus delivery system.

29055226

2017

dbSNP:

rs121918043

PKD2

0.010

GeneticVariation

BEFREE

Here we show that the ADPKD missense variant TRPP2(D511V) greatly reduces TRPP2 protein stability, and that TRPP2(D511V) function can be rescued in vivo by small molecules targeting the TRPP2 degradation pathway.

26924047

2016

dbSNP:

rs754868200

PKD2

0.010

GeneticVariation

BEFREE

Although both variants were predicted to be damaging to the mutant protein, only Y528C co-segregated with all of the PKD1-affected individuals in NFL10.

22031115

2012

dbSNP:

rs886041114

PKD2

0.010

GeneticVariation

BEFREE

Herein, we describe and characterize a novel missense mutation in the PKD2 gene (c.1320G>T) in a 41-year-old White man with kidney cysts and a family history of ADPKD.

20950398

2011

dbSNP:

rs1392093609

PKD2

0.010

GeneticVariation

BEFREE

Our results suggest that the polymorphism at Arg25Pro of TGF-beta1 in the Korean population has an allele distribution different from that ofthe Western population and that the polymorphism at Leu10Pro of TGF-beta1 has no association with the renal progression in Korean ADPKD patients.

12572925

2003