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 Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families. 31079206

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker BEFREE We used whole-exome sequencing in a cohort of 122 patients with genetically unresolved clinical diagnosis of ADPKD or polycystic liver disease to identify a candidate gene, <i>ALG9</i>, and <i>in vitro</i> cell-based assays of PC1 protein maturation to functionally validate it. 31395617

2019

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder caused mainly by mutations in the PKD1 gene. 25757501

2015

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE A grandmother with the PKD1 gene mutation in mosaicism (p.Val1105ArgfsX4) and with mild clinical course of ADPKD (end stage renal failure at the age of 77) seemed to have ADPKD because of PKD2 gene mutation. 23496908

2013

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease. 26632257

2015

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Although both variants were predicted to be damaging to the mutant protein, only Y528C co-segregated with all of the PKD1-affected individuals in NFL10. 22031115

2012

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker BEFREE Two novel mutations affecting the same splice site of PKD1 correlate with different phenotypes in ADPKD. 24575920

2014

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker BEFREE Mutations in PKD1 and PKD2, the genes encoding the proteins polycystin-1 (PC1) and polycystin-2 (PC2), cause autosomal dominant polycystic kidney disease (ADPKD). 23376035

2013

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE The rest of the patient samples also showed few variants in ADPKD (Autosomal Dominant Polycystic Kidney Disease) disease causing genes PKD1 and PKD2 i.e. 27401137

2016

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker BEFREE Further assessment of the mutants revealed impaired autophagic flux, which was conserved in kidney epithelial cells derived from both Pkd1-null mice and ADPKD patients. 28007903

2017

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE A search has been conducted for disease-causing mutations in the PKD1 gene in 147 unrelated ADPKD index cases. 9521593

1998

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 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: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE ADPKD is associated with a germline mutation of one of the two Pkd1 alleles. 31412963

2020

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System. 27835667

2016

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Mutations in PKD1 are responsible for the majority of ADPKD cases worldwide. 17451746

2007

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 AlteredExpression BEFREE Autosomal dominant polycystic kidney disease with minimal clinical expression unlinked to the PKD1 locus. 8394527

1993

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation 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: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Adults with autosomal dominant polycystic kidney disease (ADPKD) and PKD1 mutations have a more severe disease than do patients with PKD2 mutations. 19194729

2009

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker BEFREE Unopposed cAMP stimulated hyperphosphorylation of PC2 in the absence of functional PC1 could contribute to cyst initiation in PKD1 patients and represents a new molecular paradigm in understanding ADPKD pathogenesis. 23390129

2013

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE We introduced into mice by homologous recombination a Pkd1 truncation mutation, Pkd1-, that mimics a mutation found in ADPKD. 9326937

1997

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker BEFREE Polycystin-1 (PC1) is a large transmembrane protein important in renal differentiation and defective in most cases of autosomal dominant polycystic kidney disease (ADPKD), a common cause of renal failure in adults. 15748886

2005

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Generation of induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient with a p.Ser1457fs mutation in PKD1. 29034881

2017

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE To determine whether the presence of CF with the expression of mutated CFTR proteins modifies cyst formation in ADPKD, we studied a large family with both inherited diseases.ADPKD in this family is linked to PKD1. 9856513

1998

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes, and duplication sequences of PKD1. 23266634

2013

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 GeneticVariation BEFREE Mutations of PKD1 and PKD2 account for 85 and 15% of cases of autosomal dominant polycystic kidney disease (ADPKD), respectively. 19443633

2009