Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B 		0.010 GeneticVariation disease BEFREE We demonstrated that this novel HNF-1β mutation strongly influences the expression of both PKD2, responsible for the formation of the renal cysts, and SOCS3, which is associated with early diabetes onset. 22641569 2013
Entrez Id: 9021
Gene Symbol: SOCS3
SOCS3 		0.010 GeneticVariation disease BEFREE HNF-1β mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred. 22641569 2013
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 Biomarker disease CTD_human Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD. 25877301 2015
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 Biomarker disease 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 		0.970 Biomarker disease 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 		0.970 Biomarker disease CTD_human N-glycosylation determines the abundance of the transient receptor potential channel TRPP2. 24719335 2014
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 Biomarker disease 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 		0.970 Biomarker disease 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 		0.970 Biomarker disease MGD Cardiac defects and renal failure in mice with targeted mutations in Pkd2. 10615132 2000
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 Biomarker disease CTD_human Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases. 12089381 2002
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 Biomarker disease 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 		0.970 Biomarker disease MGD Somatic inactivation of Pkd2 results in polycystic kidney disease. 9568711 1998
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 Biomarker disease 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 		0.970 Biomarker disease MGD Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. 25574838 2015
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 Biomarker disease GENOMICS_ENGLAND Type of PKD1 mutation influences renal outcome in ADPKD. 23431072 2013
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 Biomarker disease CTD_human The TRPP2-dependent channel of renal primary cilia also requires TRPM3. 30883612 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 Biomarker disease 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 		0.970 Biomarker disease MGD Two populations of node monocilia initiate left-right asymmetry in the mouse. 12859898 2003
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 Biomarker disease 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 		0.970 Biomarker disease MGD The ion channel polycystin-2 is required for left-right axis determination in mice. 12062060 2002
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 Biomarker disease 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: 5310
Gene Symbol: PKD1
PKD1 		0.370 Biomarker disease 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: 5310
Gene Symbol: PKD1
PKD1 		0.370 Biomarker disease CTD_human Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases. 12089381 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.370 Biomarker disease CTD_human A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. 7581371 1995