Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 Biomarker 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation BEFREE Mutations in polycystin proteins PKD1 and TRPP2 lead to autosomal dominant polycystic kidney disease. 30928102

2019

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
Polycystic Kidney, Autosomal Dominant
1.000 Biomarker 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
Polycystic Kidney, Autosomal Dominant
1.000 AlteredExpression 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 Biomarker 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 Biomarker 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 Biomarker 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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
Polycystic Kidney, Autosomal Dominant
1.000 Biomarker 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
Polycystic Kidney, Autosomal Dominant
1.000 GeneticVariation 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