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 GENOMICS_ENGLAND
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease BEFREE The markers we mapped are widely distributed over the region known to contain the PKD1 gene, and it is therefore likely that the mouse homologue of PKD1 is also located on mouse chromosome 17. 1349580 1992
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 BEFREE The major ADPKD gene, polycystic kidney disease 1 (PKD1), has recently been identified. 7633405 1995
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease BEFREE Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium). 7633406 1995
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 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 		1.000 Biomarker disease MGD Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation. 9326937 1997
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 Biomarker disease GENOMICS_ENGLAND Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication. 9211343 1997
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 An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. 9285784 1997
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 GeneticVariation disease UNIPROT Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene. 9521593 1998
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 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 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 Mutational analysis within the 3' region of the PKD1 gene. 10200984 1999
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 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 GeneticVariation disease UNIPROT Novel mutations in the duplicated region of PKD1 gene. 10854095 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease CLINGEN Thirteen novel mutations of the replicated region of PKD1 in an Asian population. 11012875 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease BEFREE These findings suggest that the first step toward cyst formation in PKD1 patients is the loss of one functional copy of polycystin 1, which indirectly supports the "two-hit" model of cystogenesis where a second somatic mutation inactivating the normal allele is necessary to occur for development of the disease condition. 10923038 2000
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