Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation 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: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker 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: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE A novel frameshift PKD1 mutation in a Chinese patient with autosomal dominant polycystic kidney disease and azoospermia: A case report. 30651829

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker BEFREE GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease. 30792735

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 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: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Here, we used a unique murine ADPKD model with selective deletion of polycystin-1 (<i>pkd1</i>) in the kidney (KPKD1) to study the role of IL-1 signaling in ADPKD progression. 31141402

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Our results showed that WES detected PKD1 mutations in ADPKD patients with 50% sensitivity, as the reading depth and sequencing quality were low in the duplicated regions of PKD1 (exons 1-32) compared with those of WGS and target enrichment arrays. 30858458

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Mutations in PKD1 or PKD2 gene lead to autosomal dominant polycystic kidney disease (ADPKD). 30639418

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker BEFREE Due to pseudogene homology of PKD1, the predominant ADPKD disease gene, and the variable disease severity and age of onset, we aimed to investigate the utility of ExAC for variant assessment in ADPKD. 30369598

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker BEFREE For the first patient, a liver biopsy confirmed the pathological features of CHF, and genetic testing revealed three heterozygous missense mutations, which were classified as "undetermined" in the public Wilson's disease/ATP7B and ADPKD/PKD1 databases. 31096464

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE ADPKD patients with larger kidneys and PKD1 mutation are susceptible to increased risk of multiple UTI. 31165946

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE This study demonstrates that the urinary proteome of pediatric RCAD patients differs from autosomal dominant polycystic kidney disease (PKD1, PKD2), congenital nephrotic syndrome (NPHS1, NPHS2, NPHS4, NPHS9) as well as from chronic kidney disease conditions, suggesting differences between the pathophysiology behind these disorders. 30778115

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 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: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation 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: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation 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: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is caused mostly by mutations in polycystin-1 or polycystin-2. 31059522

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation 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: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 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: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Inactivation of the PKD1 or PKD2 gene by germline and somatic mutations is necessary for cyst formation in ADPKD. 31186083

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Polycystin-1 (PC1), encoded by the PKD1 gene that is mutated in the autosomal dominant polycystic kidney disease, regulates a number of processes including bone development. 30215740

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Approximately 30% of Persian cats have a c.10063C > A variant in polycystin 1 (PKD1) homolog causing autosomal dominant polycystic kidney disease (ADPKD). 31299928

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 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

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE To conclude, we demonstrated that selective CaSR activation in human ciPTEC carrying PKD1 mutation increases [Ca<sup>2+</sup>]<sub>i</sub>, reduces intracellular cAMP and mTOR activity, reversing the principal dysregulations considered the most proximal events in ADPKD pathogenesis, making CaSR a possible candidate as therapeutic target. 29632324

2018

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker BEFREE Factors that regulate trafficking of PC1 to cilia are thus of great interest both as potential causes of ADPKD, but also as possible modifiable factors to treat ADPKD. 30073588

2018

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by mutation of PKD1 or PKD2, which encode polycystin 1 and 2, respectively. 29563577

2018