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 Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. 26139440 2016
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 BEFREE Family screening for polycystic kidney disease was negative and mutations in polycystic kidney disease 1 and 2 genes (PKD1 and PKD2) were absent. 23165645 2012
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 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 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
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