×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
GENOMICS_ENGLAND
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.
23624871
2013
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
CLINGEN
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
23064367
2012
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
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
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
GENOMICS_ENGLAND
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
22034641
2011
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
21115670
2011
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
GENOMICS_ENGLAND
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
20558538
2010
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
18837007
2009
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
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
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
15772804
2005
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
Biomarker
CLINGEN
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.
15496422
2004
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
A complete mutation screen of the ADPKD genes by DHPLC.
11967008
2002
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.
11773467
2002
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
12007219
2002
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Mutation screening of the PKD1 transcript by RT-PCR.
12070253
2002
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
12220456
2002
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
11115377
2001
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.
11316854
2001
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Mutational analysis within the 3' region of the PKD1 gene in Japanese families.
11691639
2001
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel mutations in the duplicated region of PKD1 gene.
10854095
2000