PLAU, plasminogen activator, urokinase, 5328

N. diseases: 439; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 GeneticVariation disease BEFREE This meta-analysis showed that T allele of rs2227564 polymorphism in PLAU gene could increase the effects on risk of AD, and this result needs to be confirmed by further studies. 23813610 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 Biomarker disease BEFREE We have evaluated variants in seven Aβ-degrading genes (ACE, ECE1, ECE2, IDE, MME, PLAU, and TF) for association with AD risk in the Genetic and Environmental Risk in Alzheimer's Disease Consortium 1 (GERAD1) cohort, and with three cognitive phenotypes in the Lothian Birth Cohort 1936 (LBC1936), using 128 and 121 SNPs, respectively. 22693153 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 GeneticVariation disease LHGDN Our data support a role for PLAU_1 as an independent genetic risk factor for AD in the Italian population for those subjects who do not have the APOE-epsilon4 allele. 17174555 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 Biomarker disease BEFREE Our data support a role for PLAU_1 as an independent genetic risk factor for AD in the Italian population for those subjects who do not have the APOE-epsilon4 allele. 17174555 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 GeneticVariation disease LHGDN In this study we evaluated the distribution of four tagSNPs (rs2227562 in intron 5, rs2227564 in exon 6, rs2227571 in intron 9, and rs4065 in 3'UTR) in the PLAU gene in a large case-control study consisting of up to 1,000 AD patients and 697 white control subjects. 16967469 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 GeneticVariation disease BEFREE Previously some studies have examined the role of common variation in the PLAU gene with AD risk but the results have been inconsistent and this inconsistency could have been due to the use of relatively small sample sizes. 16967469 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 GeneticVariation disease BEFREE A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease. 16825285 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 GeneticVariation disease LHGDN A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease. 16825285 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 GeneticVariation disease BEFREE No association of a non-synonymous PLAU polymorphism with Alzheimer's disease and disease-related traits. 15558716 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 GeneticVariation disease LHGDN Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2. 12898287 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 Biomarker disease BEFREE We interpret these observations as suggesting that uPA represents a possible candidate gene for the chromosome 10 familial AD locus. 12271474 2002
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 Biomarker disease MGD
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 Biomarker disease CTD_human
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.680 Biomarker disease HPO
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 Biomarker disease BEFREE A unique gain-of-function defect in fibrinolysis causes the Quebec platelet disorder (QPD) which is characterized by profibrinolytic platelets containing increased urokinase-type plasminogen activator (uPA) in the α-granules. 31427261 2019
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 Biomarker disease BEFREE QPD PLAU transcripts were consistent with reference gene models, with a much higher proportion of reads originating from the disease chromosome in megakaryocytes than granulocytes. 28301587 2017
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 GeneticVariation disease BEFREE QPD is the first bleeding disorder identified to be caused by a PLAU mutation and it is also the first bleeding disorder recognized to result from a gene copy number mutation. 21495923 2011
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 GeneticVariation disease BEFREE QPD is the first bleeding disorder to be associated with a gene duplication event and a PLAU mutation. 20007542 2010
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 Biomarker disease GENOMICS_ENGLAND QPD is the first bleeding disorder to be associated with a gene duplication event and a PLAU mutation. 20007542 2010
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 GermlineCausalMutation disease ORPHANET QPD is the first bleeding disorder to be associated with a gene duplication event and a PLAU mutation. 20007542 2010
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 AlteredExpression disease BEFREE Although QPD CD34(+) progenitors expressed normal amounts of uPA, their differentiation into megakaryocytes abnormally increased expression of the uPA gene but not the flanking genes for vinculin or calcium/calmodulin-dependent protein kinase IIgamma on chromosome 10. 19029443 2009
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 GeneticVariation disease BEFREE Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder associated with increased urokinase-type plasminogen activator in platelets and alpha-granule protein degradation. 15026313 2004
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 AlteredExpression disease BEFREE Although patients with the QPD have normal to increased u-PA levels in their plasma, without evidence of systemic fibrinogenolysis, their increased platelet u-PA could contribute to bleeding by accelerating fibrinolysis within the hemostatic plug. 11435291 2001
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 Biomarker disease CTD_human
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.510 Biomarker disease RGD These data suggest that the need for an increasing TGFβ₁ bioavailability during the post-infarction period in rat myocardium is achieved in the early post MI period by an increased expression of uPA/uPAR proteolytic system (indirect activation of latent TGFβ₁) and in the late post MI period by direct regulation of TGFβ₁ expression. 20952728 2011