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 primarily caused by mutations in polycystin 1, transient receptor potential channel interacting (PKD1) and PKD2, and characterized by numerous cysts in various organs, primarily the kidneys and liver. 30651829 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Mutations in PKD1 and PKD2, genes that encode polycystin 1 and 2, respectively, are responsible for most cases of ADPKD. 31395386 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Seminal megavesicles were found in 23 of 92 ADPKD (25%) subjects with PKD1 (22/71, 31%) or PKD2 (n = 1/21, 5%) mutations, but in only two control subjects (P < 0.0001). 30230107 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Mutations in PKD1 or PKD2 gene lead to autosomal dominant polycystic kidney disease (ADPKD). 30639418 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Polycystic kidney disease (PKD) is a common genetic disorder characterized by formations of numerous cysts in kidneys and most caused by PKD1 or PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 31399962 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE <b>Conclusions:</b> Mutations in PKD1 and PKD2 are the most common cause of ADPKD in Saudi patients with typical ADPKD. 31488014 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE PKD2 mutations cause Autosomal Dominant Polycystic Kidney Disease (ADPKD) and affect many cellular pathways. 31492868 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Studies suggest that polycystin-1 and polycystin-2, which are encoded by PKD1 and PKD2, respectively (the genes that are mutated in >99% of patients with ADPKD), may in part affect cellular metabolism through direct effects on mitochondrial function. 31488901 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Inactivation of the PKD1 or PKD2 gene by germline and somatic mutations is necessary for cyst formation in ADPKD. 31186083 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE In the 7 May 2019 issue of <i>Science Signaling</i>, Kuo <i>et al.</i> report that polycystin 2 (PC2), encoded by a gene mutated in type 2 autosomal dominant polycystic kidney disease (ADPKD), contributes to cystogenesis by affecting MFN2, thus extending the role of mitochondria-ER contact sites to a common genetic disorder. 31138767 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE These results demonstrate the ion channel function of polycystin-1 in the polycystin-1/polycystin-2 complex, enriching our understanding of this channel and its role in ADPKD. 31441214 2019
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 encoding polycystin-1 (PC1) and polycystin-2 (PC2), respectively. 30242840 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Forty-eight PKD1 and PKD2 mutation sites were detected in 44 bilateral PKD patients, of which 48 were PKD1 mutation sites (87.5%) and six were PKD2 mutation sites (12.5%).All of which exhibited typical ADPKD. 31056860 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE About the same number of children do carry mutations in the dominant autosomal dominant polycystic kidney disease (ADPKD) genes, PKD1 and less frequent PKD2, often arise de novo or may affect both disease alleles in a recessive mode. 30359986 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 AlteredExpression disease BEFREE Finally, scrib and yap had a genetic interaction with pkd2 in cyst formation, and the overexpression of Scribble attenuated the down-regulation of cytoplasmic YAP in ADPKD. 29529391 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease is the most common monogenetic kidney disorder and is linked to mutations in PKD1 and PKD2. 29633426 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE PKD2 is one of the genes defective in autosomal dominant polycystic kidney disease (ADPKD). 30378388 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE Mutations PKD1 (which accounts for 85% of ADPKD and produces polycystin-1) and PKD2 (produces polycystin-2) are responsible for this disease. 30424739 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE A total of 93 mutations in PKD1 and PKD2 were identified in 98 Chinese families with ADPKD inheritance and the detection rate was 81.7% (98/120). 29529603 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE PKD1 and PKD2 germline mutations are found in patients with autosomal dominant polycystic kidney disease (ADPKD). 28782656 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Among the better understood proteins residing in the primary cilium is polycystin-2 which is mutated in patients suffering from autosomal-dominant polycystic kidney disease. 29559335 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by mutation of PKD1 or PKD2, which encode polycystin 1 and 2, respectively. 29563577 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE To our knowledge, this is the first report of ADPKD complicated with aortic dissection caused by PKD2 mutation. 29378535 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Here, we analyse the spatial organization of a large region spanning the polycystic kidney disease 2 (PKD2) gene, one of the genes responsible of autosomal dominant polycystic kidney disease (ADPKD). 29986647 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) can be caused by mutations in the PKD1 or PKD2 genes. 29515026 2018