Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation BEFREE Polycystic kidney disease 2 (which encodes TRPP2) knockout mice displayed decreased cerebrovascular SOCE-induced contraction. 31541223

2019

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker CTD_human The TRPP2-dependent channel of renal primary cilia also requires TRPM3. 30883612

2019

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker BEFREE We generated the first inducible, smooth muscle-specific knockout mice for a TRP channel, namely for PKD2 (TRPP1), to investigate arterial myocyte and blood pressure regulation by this protein. 30511640

2018

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation UNIPROT Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels. 29899465

2018

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation BEFREE ADPKD is caused by mutations in the gene encoding either polycystic kidney disease 1 ( PKD1) or polycystic kidney disease 2 ( PKD2). 29475398

2018

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker GENOMICS_ENGLAND Mutational screening of PKD2 gene in the north Indian polycystic kidney disease patients revealed 28 genetic variations. 29321346

2017

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker CTD_human Histone deacetylase 6 inhibition reduces cysts by decreasing cAMP and Ca2+ in knock-out mouse models of polycystic kidney disease. 28887310

2017

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation UNIPROT Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant. 27071085

2016

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation UNIPROT The polycystin complex mediates Wnt/Ca(2+) signalling. 27214281

2016

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker CTD_human Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD. 25877301

2015

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker MGD Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. 25574838

2015

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker CTD_human N-glycosylation determines the abundance of the transient receptor potential channel TRPP2. 24719335

2014

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker BEFREE Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2). 23390131

2013

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker GENOMICS_ENGLAND Type of PKD1 mutation influences renal outcome in ADPKD. 23431072

2013

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker GENOMICS_ENGLAND Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy. 22114106

2012

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation UNIPROT Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 21115670

2011

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker MGD Hepato-renal pathology in pkd2ws25/- mice, an animal model of autosomal dominant polycystic kidney disease. 20093497

2010

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker GENOMICS_ENGLAND Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. 18635443

2008

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker MGD Loss of polycystin-1 or polycystin-2 results in dysregulated apolipoprotein expression in murine tissues via alterations in nuclear hormone receptors. 16301212

2006

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation UNIPROT Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804

2005

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker CTD_human Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells. 15001556

2004

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation UNIPROT PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease. 14993477

2004

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker MGD Two populations of node monocilia initiate left-right asymmetry in the mouse. 12859898

2003

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation UNIPROT Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. 12707387

2003

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation UNIPROT Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. 11968093

2002