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, the genes encoding polycystin 1 (PC1) and polycystin 2 (PC2), respectively. 31668373 2020
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE We describe a family with recurrent foetal presentation of ADPKD due to co-inheritance of pathogenic variants in both PKD1 [c.3860T > C; p.(Leu1287Pro)] and PKD2 [(c.1000C > A; p.(Pro334Thr)] genes. 31349084 2020
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE In this review, we describe the biophysical and physiological properties of PC2 as a cation channel and modulator of intracellular calcium channels, along with how these properties are altered in ADPKD. 31805375 2020
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by mutations of two genes, PKD1 and PKD2. 30165646 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Mutations in polycystin proteins PKD1 and TRPP2 lead to autosomal dominant polycystic kidney disease. 30928102 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease BEFREE Low bone turnover osteopenia has been reported in mice with conditional deletion of the PKD1 and PKD2 genes in osteoblasts, and preliminary clinical data also suggest suppressed bone turnover in patients with ADPKD. 30665572 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 AlteredExpression disease BEFREE PKD2 mutations lead to the significant reduction of TRPP2 expression in T lymphocytes derived from ADPKD patients. 31514750 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Mutation or deletion of the gene encoding for PC2 results in autosomal dominant polycystic kidney disease (ADPKD), a condition characterized by numerous fluid-filled cysts. 31064883 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE The detection rate for a PKD1 and PKD2 mutation in the Chinese ADPKD patients was 95.2% (59/62). 29633482 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease CTD_human 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 recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct, with ADPKD usually caused by the genes <i>PKD1</i> or <i>PKD2</i> (encoding polycystin-1 and polycystin-2, respectively) and ARPKD caused by <i>PKHD1</i> (encoding fibrocystin/polyductin [FPC]). 31427367 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE Autosomal Dominant Polycystic Kidney Disease (ADPKD) typically results from a mutation in the PKD1 and PKD2 genes, which code for polycystin-1 (PC1) and polycystin-2 (PC2), respectively. 30792735 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE PKD1 and PKD2 variants were identified by direct gene sequencing and/or multiplex ligation-dependent probe amplification (MLPA) in 125 unrelated patients of ADPKD. 30816285 2019
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