Gene: PKD1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease CLINVAR Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 23064367 2012
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease CLINGEN Further mutations of the PBP gene were found in PKD1 patients, two deletions (one a de novo event) and a splicing defect, confirming that PBP is the PKD1 gene. 8004675 1994
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease BEFREE Further mutations of the PBP gene were found in PKD1 patients, two deletions (one a de novo event) and a splicing defect, confirming that PBP is the PKD1 gene. 8004675 1994
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease MGD G-protein signaling modulator 1 deficiency accelerates cystic disease in an orthologous mouse model of autosomal dominant polycystic kidney disease. 23236168 2012
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804 2005
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease BEFREE Human conditionally immortalized Proximal Tubular Epithelial cells (ciPTEC) with stable knockdown of PKD1 (ciPTEC-PC1KD) and ciPTEC generated from an ADPKD1 patient (ciPTEC-PC1Pt) were used as experimental tools. 29632324 2018
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. 9199561 1997
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. 10364515 1999
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease GENOMICS_ENGLAND Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. 20558538 2010
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease CLINVAR Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. 19165178 2009
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease MGD Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes. 9988265 1999
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1. 9921908 1998
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease CLINGEN Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. 15496422 2004
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease MGD Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. 15496422 2004
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease BEFREE Multivariable logistic regression analysis with adjustment for conventional risk factors revealed that the -572G-->C polymorphism of the interleukin-6 (IL-6) gene (IL6) was significantly (P<0.001) associated with both atherothrombotic cerebral infarction and intracerebral hemorrhage and that the -55C-->T polymorphism of the uncoupling protein 3 gene (UCP3), the -863C-->A polymorphism of the tumor necrosis factor (TNF) gene (TNF), and the G-->A (Gly243Asp) polymorphism of the polycystic kidney disease 1-like gene (PKD1-like) were significantly associated with subarachnoid hemorrhage. 16741147 2006
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients. 12007219 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. 11115377 2001
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. 11316854 2001
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. 11857740 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease BEFREE Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. 11857740 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease. 10577909 1999
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Mutation screening of the PKD1 transcript by RT-PCR. 12070253 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Mutational analysis within the 3' region of the PKD1 gene in Japanese families. 11691639 2001
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Mutational analysis within the 3' region of the PKD1 gene. 10200984 1999
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. 22034641 2011