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 the most common monogenic kidney disease and is caused by heterozygous germ-line mutations in either PKD1 (85%) or PKD2 (15%). 31767049 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by mutations in the PKD1 (~85%) or PKD2 (~15%) gene which, respectively, encode polycystin-1 (PC1) and polycystin-2 (PC2). 31341901 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE ADPKD is caused by a mutation in PKD1 or PKD2 genes encoding the proteins polycystin-1 and polycystin-2, respectively. 30644092 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE We have evaluated the efficacy of WES, WGS and targeted enrichment methodologies in detecting ADPKD mutations in the PKD1 and PKD2 genes in patients who were clinically evaluated by ultrasonography and renal function tests. 30858458 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE <i>PKD1</i> or <i>PKD2</i>, the two main causal genes for autosomal dominant polycystic kidney disease (ADPKD), encode the multipass transmembrane proteins polycystin-1 (PC1) and polycystin-2 (PC2), respectively. 31451534 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE One of the most common human genetic diseases is autosomal dominant polycystic kidney disease (ADPKD), which is caused by mutations in the PKD1 or PKD2 genes that encode Polycystin 1 and 2 (PC1/2), transmembrane proteins that translocate to the cilium. 30799240 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is caused mostly by mutations in polycystin-1 or polycystin-2. 31059522 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE Some cases of autosomal dominant polycystic kidney disease (ADPKD) are caused by defects in TRPP2 (also called polycystin-2, PC2, or PKD2). 30883612 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal Dominant Polycystic Kidney Disease (ADPKD), the most common monogenic kidney disease, is caused by mutations in the PKD1, PKD2 or, in a very limited number of families, GANAB genes. 29600752 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease, caused in the majority of the cases by a mutation in either the PKD1 or the PKD2 gene. 31773180 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE PC1 and PC2 are encoded by the Pkd1 and Pkd2 genes that are implicated in autosomal dominant polycystic kidney disease (ADPKD). 31556469 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Polycystin-1 (PC-1) and 2 (PC-2) are the products of the PKD1 and PKD2 genes, which are mutated in Autosomal Dominant Polycystic Kidney Disease (ADPKD). 31719603 2019
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