Gene: PKD2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group BEFREE Human genetics point to three additional TRP channels as plausible therapeutic targets: TRPC6 in FSGS, PKD2 in polycystic kidney disease, and TRPM6 in familial hypomagnesemia with secondary hypocalcemia (HSH). 31704171 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 GeneticVariation group BEFREE A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. 9222969 1997
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group BEFREE PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. 8650545 1996
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group HPO
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN Human polycystin-2 transgene dose-dependently rescues ADPKD phenotypes in Pkd2 mutant mice. 26435415 2015
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 GeneticVariation group LHGDN Molecular pathogenesis of ADPKD: the polycystin complex gets complex. 15780076 2005
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. 11891195 2002
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). 9326320 1997
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 CausalMutation group CLINVAR
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN Somatic inactivation of Pkd2 results in polycystic kidney disease. 9568711 1998
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. 9573526 1998
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. 10411676 1999
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 GeneticVariation group BEFREE Using a combination of genetic complementation with deletion constructs and virus overlay assays with individual domains, we find that AAV2 functionally interacts predominantly with the second Ig-like polycystic kidney disease (PKD) repeat domain (PKD2) present in the ectodomain of AAVR. 28679762 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 GeneticVariation group BEFREE Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics. 24011172 2013
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group BEFREE Polycystin-1C terminus cleavage and its relation with polycystin-2, two proteins involved in polycystic kidney disease. 23570767 2013
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group BEFREE TRPC6, TRPM6, and TRPP2 have been implicated in hereditary focal segmental glomerulosclerosis (FSGS), hypomagnesemia with secondary hypocalcemia (HSH), and polycystic kidney disease (PKD), respectively. 17346947 2007
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group BEFREE Polycystin-L (PCL) shares high homology with polycystin-2, the product of polycystic kidney disease gene-2. 11959145 2002
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 GeneticVariation group BEFREE To use preimplantation genetic diagnosis for achieving a polycystic kidney disease (PKD)-free pregnancy for a couple in which the female partner was affected by PKD but whose PKD1 or PKD2 carrier status was not established. 15482771 2004
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease. 23985799 2013
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 GeneticVariation group BEFREE Mutations in Polycystic Kidney Disease proteins (PKD1 or PKD2) are causative for autosomal dominant polycystic kidney disease (ADPKD). 25920554 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 GeneticVariation group BEFREE TRPP2 (polycystin-2) is a member of the TRP family of non-selective cation channels that is mutated in human autosomal polycystic kidney disease. 17535744 2006
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group BEFREE Polycystic kidney disease (PKD) is a life-threatening disorder, commonly caused by defects in polycystin-1 (PC1) or polycystin-2 (PC2), in which tubular epithelia form fluid-filled cysts. 28967916 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group BEFREE Structure of the polycystic kidney disease TRP channel Polycystin-2 (PC2). 27991905 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 GeneticVariation group BEFREE Family screening for polycystic kidney disease was negative and mutations in polycystic kidney disease 1 and 2 genes (PKD1 and PKD2) were absent. 23165645 2012
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group BEFREE No gating ligand is known for the human homologue of TrpP, polycystin-2, which causes polycystic kidney disease. 28011630 2017