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 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 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 Biomarker disease MGD Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 23064367 2012
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 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 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 UNIPROT Novel mutations in the duplicated region of PKD1 gene. 10854095 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT 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 Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease. 9259200 1997
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT A complete mutation screen of the ADPKD genes by DHPLC. 11967008 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. 12482949 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease. 11773467 2002
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 Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804 2005
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Thirteen novel mutations of the replicated region of PKD1 in an Asian population. 11012875 2000
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 UNIPROT Mutation screening of the PKD1 transcript by RT-PCR. 12070253 2002
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 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 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 GeneticVariation disease UNIPROT Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. 11316854 2001