Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 GeneticVariation disease CLINVAR
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 CausalMutation disease CLINVAR
Entrez Id: 23193
Gene Symbol: GANAB
GANAB 		0.300 Biomarker disease CTD_human
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 GeneticVariation disease BEFREE Polycystic kidney disease 2 (which encodes TRPP2) knockout mice displayed decreased cerebrovascular SOCE-induced contraction. 31541223 2019
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
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 GeneticVariation disease UNIPROT Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. 10541293 1999
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.370 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
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		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
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.370 Biomarker disease BEFREE Age at presentation with kidney failure was later in PKD2 than in PKD1 (median age 74.0 [67.2-80.8] vs 54.3 [52.7-55.9] years). 10023895 1999
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: 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: 203286
Gene Symbol: ANKS6
ANKS6 		0.300 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 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 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 GeneticVariation disease BEFREE For a better understanding of the cause of this disorder, we searched for mutations in the PKD2 gene in two PKD2-linked families characterized by different clinical phenotypes. 10213643 1999
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 GeneticVariation disease UNIPROT Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. 11968093 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.370 Biomarker disease BEFREE From this review, we highlight a number of suggestions for future improvement including designs to enrich a more homogeneous patient population (i.e. based on their age-adjusted total kidney volume and/or underlying mutation class) at high-risk for disease progression, appropriate study duration and patient sample size that are matched to the disease severity of the study patients, and the use of baseline characteristics (i.e. renal function, TKV, and the proportion of PKD1 and PKD2 patients) of the analyzed patients as a quality control measure to assess any potential imbalance in randomization. 27858251 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 GeneticVariation disease UNIPROT Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant. 27071085 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 GeneticVariation disease UNIPROT Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804 2005
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.970 GeneticVariation disease UNIPROT Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. 12707387 2003
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 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: 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