Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 or PKD2 which encodes polycystin-1 (PC1) and polycystin-2, respectively. 28904368 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE Molecular targeting of proteins involved in the endosomal sorting of PC1 and PC2 could lead to new therapeutic approaches in ADPKD. 28620080 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease is caused by mutations in the genes encoding polycystin-1 (PC1) and polycystin-2 (PC2), which form an ion channel complex that may mediate ciliary sensory processes and regulate endoplasmic reticulum (ER) Ca<sup>2+</sup> release. 27881662 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE Polycystin-2 (PC2, TRPP2) is a nonselective cation channel whose dysfunction is associated with the onset of autosomal dominant polycystic kidney disease (ADPKD). 27836810 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE Malfunctioning Ca<sup>2+</sup> regulation in PC2 causes autosomal-dominant polycystic kidney disease. 28092368 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE A C. elegans ortholog of polycystin-2, a protein that when defective in mammals results in autosomal dominant polycystic kidney disease, is mislocalized in the male ray neurons of mapk-15 mutant worms. 28745435 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE For example, the TRPP2-PKD1 complex has a crucial function in renal physiology, with mutations in either protein causing autosomal dominant polycystic kidney disease. 28154010 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE Mutations in either polycystin-1 (PC1 or PKD1) or polycystin-2 (PC2, PKD2 or TRPP1) cause autosomal-dominant polycystic kidney disease (ADPKD) through unknown mechanisms. 27991905 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 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: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is driven by mutations in PKD1 and PKD2 genes. 28604386 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE Patients with PKD2-related ADPKD typically present with mild disease. 28356211 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE For example, PKD1 forms a complex with PKD2 and mutations in either of these proteins cause Autosomal Dominant Polycystic Kidney Disease (ADPKD), which is the most frequent potentially-lethal single-gene disorder in humans. 28271061 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disorder and is due to disease-causing variants in PKD1 or PKD2. 27165007 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal-dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2 and is characterized by proliferation of renal tubular epithelium and progressive chronic kidney disease. 26718059 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Patients with autosomal dominant polycystic kidney disease (ADPKD) typically carry a mutation in either the PKD1 or PKD2 gene, which leads to massive cyst formation in both kidneys. 27493259 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease 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
1.000 GeneticVariation disease BEFREE Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System. 27835667 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE The Polycystic Kidney Disease 2 (Pkd2) gene is mutated in autosomal dominant polycystic kidney disease (ADPKD), one of the most common human monogenic disorders. 27768895 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal Dominant Polycystic Kidney Disease (ADPKD) caused by mutations in two PKD1 and PKD2 genes. 26950445 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Here we show that the ADPKD missense variant TRPP2(D511V) greatly reduces TRPP2 protein stability, and that TRPP2(D511V) function can be rescued in vivo by small molecules targeting the TRPP2 degradation pathway. 26924047 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Patients with ADPKD and a pancreatic cyst were 5.9 times more likely to have a PKD2 mutation than a PKD1 mutation after adjusting for age, race, sex, estimated glomerular filtration rate, liver volume, and total kidney volume. 27046073 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE Refined genotype-renal disease correlation coupled with targeted next generation sequencing of PKD1 and PKD2 may provide useful clinical prognostication for ADPKD. 26453610 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Mutations to PKD1 or PKD2 cause ADPKD; both loci have high levels of allelic heterogeneity. 26823553 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease. 27782177 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE It is the fourth leading cause of renal replacement and renal failure worldwide.Mutations in PKD1 or PKD2 cause ADPKD. 27730430 2016