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 Biomarker CTD_human Histone deacetylase 6 inhibition reduces cysts by decreasing cAMP and Ca2+ in knock-out mouse models of polycystic kidney disease. 28887310

2017

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CTD_human Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD. 25877301

2015

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CLINGEN This resulted in the identification of the largest number of new pathogenic mutations (n = 351) in a single publication, expanded the spectrum of known ADPKD pathogenic mutations by 41.8% for PKD1 and by 23.8% for PKD2, and provided new insights into several issues, such as the population-dependent distribution of recurrent mutations compared with founder mutations and the relative paucity of pathogenic missense mutations in the PKD2 gene. 22508176

2012

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CLINGEN These models effectively mimic the pathophysiological features of in utero-onset and typical ADPKD, respectively, correlating the level of functional Pkd1 product with disease severity, highlighting the dosage dependence of cystogenesis. 23064367

2012

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CTD_human Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways. 19401297

2009

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CLINGEN Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history. 18640754

2008

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CLINGEN In addition, homozygous Pkd1(nl) mice showed dilatations of pancreatic and liver bile ducts, and the mice had cardiovascular abnormalities, pathogenic features similar to the human ADPKD phenotype. 15496422

2004

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CLINGEN Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. 11891195

2002

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CTD_human Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases. 12089381

2002

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CLINGEN In the present study, we have used a long-range polymerase chain reaction (PCR)-based strategy previously developed by our laboratory to analyze exons in the replicated region of PKD1 in a population of 41 unrelated Thai and 6 unrelated Korean families with ADPKD. 11012875

2000

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CLINGEN The major form of autosomal dominant polycystic kidney disease (ADPKD) results from mutation of a gene (PKD1) of unknown function that is essential for the later stages of renal tubular differentiation. 11106764

2000

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CLINGEN Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. 9192675

1997

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CLINGEN Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease. 8792818

1996

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CLINGEN Polycystin, the product of autosomal dominant polycystic kidney disease (ADPKD) 1 gene (PKD1) is the cardinal member of a novel class of proteins. 8981910

1996

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CTD_human A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. 7581371

1995

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CTD_human We identified a chromosome translocation associated with ADPKD that disrupts a gene (PBP) encoding a 14 kb transcript in the PKD1 candidate region. 8004675

1994

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker CLINGEN We identified a chromosome translocation associated with ADPKD that disrupts a gene (PBP) encoding a 14 kb transcript in the PKD1 candidate region. 8004675

1994