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 Biomarker disease 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 		1.000 GeneticVariation disease UNIPROT Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes. 11058904 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion. 11216660 2000
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 BEFREE A novel mutation of the PKD1 gene due to a nucleotide substitution in splice-acceptor site of IVS13 (AG->TG) was identified by analyses of PKD1-cDNA and genomic DNA. 10612835 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. 8554072 1996
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 UNIPROT Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. 11571556 2001
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients. 10987650 1999
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease MGD Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. 12514735 2003
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease MGD PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2. 12007403 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease MGD A mouse model for polycystic kidney disease through a somatic in-frame deletion in the 5' end of Pkd1. 18385665 2008
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 Biomarker disease CLINGEN Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176 2012
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family. 11558899 2001
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families. 10923040 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene. 10647901 1999
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. 12842373 2003
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 A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo. 15579506 2004
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease BEFREE ADPKD is caused by mutations in the gene encoding either polycystic kidney disease 1 ( PKD1) or polycystic kidney disease 2 ( PKD2). 29475398 2018
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 AlteredExpression disease BEFREE The cloning and characterization of pig PKD1 indicates that the pig and human genes are highly similar in length of genomic and cDNA sequences, genomic structure and context, expression patterns, conserved transcription factor binding sites, and the molecular mass of the encoded polycystin-1. 21945688 2011
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 GENOMICS_ENGLAND Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. 22034641 2011
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease MGD Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 23064367 2012