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 		0.900 CausalMutation group CLINVAR
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 GeneticVariation group CLINVAR
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group HPO
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 GeneticVariation group BEFREE Twenty-four families with adult onset polycystic kidney disease were typed for markers flanking the PKD1 locus on chromosome 16. 1975629 1990
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 GeneticVariation group BEFREE In the few who inherit a non-PKD1 mutation for polycystic kidney disease, renal failure is likely to occur relatively late in life. 2215575 1990
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 GeneticVariation group BEFREE The new markers and physical map described here provide an improved framework for attempts to clone the PKD1 region and to identify polycystic kidney disease mutations. 2339691 1990
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 GeneticVariation group BEFREE Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium. 7736581 1995
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium. 8004675 1994
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 GeneticVariation group BEFREE The mouse homologue of the polycystic kidney disease gene (Pkd1) is a single-copy gene. 8661056 1996
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. 8792818 1996
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 GeneticVariation group BEFREE Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. 8792818 1996
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN Identification and localization of polycystin, the PKD1 gene product. 8981910 1996
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN PKD1 and PKD2 are two recently identified genes that are responsible for the vast majority of autosomal polycystic kidney disease, a common inherited disease that causes progressive renal failure. 9192675 1997
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 GeneticVariation group BEFREE A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. 9222969 1997
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 GeneticVariation group BEFREE Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene. 9521593 1998
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 AlteredExpression group BEFREE Immunohistochemical studies have shown that polycystin 1 and polycystin 2 are developmentally regulated and are overexpressed in polycystic kidneys. 9529618 1998
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group BEFREE The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease. 9889186 1999
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 GeneticVariation group BEFREE 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 		0.900 Biomarker group BEFREE Northern analysis showed that this is a functional gene [termed the polycystic kidney disease and receptor for egg jelly related gene ( PKDREJ )], but unlike polycystin-1, has a very restricted expression pattern; the approximately 8 kb transcript was found exclusively in testis, coincident with the timing of sperm maturation. 9949214 1999
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 GeneticVariation group BEFREE The cause is unknown, but occasional familial clustering suggests that some cases are inherited, in particular when occurring in association with polycystic kidney disease and germline PKD1 gene mutations. 10517920 1999
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 GeneticVariation group BEFREE 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 		0.900 Biomarker group CLINGEN Thirteen novel mutations of the replicated region of PKD1 in an Asian population. 11012875 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells. 11106764 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 GeneticVariation group BEFREE Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. 11571556 2001
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group LHGDN Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome. 11836366 2002