Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation disease BEFREE Polycystic kidney disease 2 (which encodes TRPP2) knockout mice displayed decreased cerebrovascular SOCE-induced contraction. 31541223 2019
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker disease CTD_human The TRPP2-dependent channel of renal primary cilia also requires TRPM3. 30883612 2019
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
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
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation disease UNIPROT Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels. 29899465 2018
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation disease BEFREE ADPKD is caused by mutations in the gene encoding either polycystic kidney disease 1 ( PKD1) or polycystic kidney disease 2 ( PKD2). 29475398 2018
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
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
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
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
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation disease UNIPROT Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant. 27071085 2016
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation disease UNIPROT The polycystin complex mediates Wnt/Ca(2+) signalling. 27214281 2016
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker disease CTD_human Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD. 25877301 2015
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker disease MGD Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. 25574838 2015
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker disease CTD_human N-glycosylation determines the abundance of the transient receptor potential channel TRPP2. 24719335 2014
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker disease BEFREE Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2). 23390131 2013
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker disease GENOMICS_ENGLAND Type of PKD1 mutation influences renal outcome in ADPKD. 23431072 2013
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
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
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation disease UNIPROT Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 21115670 2011
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker disease MGD Hepato-renal pathology in pkd2ws25/- mice, an animal model of autosomal dominant polycystic kidney disease. 20093497 2010
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker disease GENOMICS_ENGLAND Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. 18635443 2008
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
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
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation disease UNIPROT Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804 2005
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker disease CTD_human Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells. 15001556 2004
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation disease UNIPROT PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease. 14993477 2004
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 Biomarker disease MGD Two populations of node monocilia initiate left-right asymmetry in the mouse. 12859898 2003
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation disease UNIPROT Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. 12707387 2003
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.970 GeneticVariation disease UNIPROT Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. 11968093 2002