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 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 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 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 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 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 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: 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 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 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 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 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 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.510 GeneticVariation disease BEFREE Association of putative functional variants in the PLAU gene and the PLAUR gene with myocardial infarction. 20518747 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression phenotype BEFREE Stromal macrophages of different phenotypes can contribute to the expression of proteins that affects metastasis such as urokinase-type plasminogen activator (uPA), its receptor uPAR, and plasminogen activator inhibitor-1 (PAI-1), but knowledge of how essential their contribution is in comparison to the cancer cells in small cell lung cancer (SCLC) and lung squamous cell carcinoma (SCC) is lacking. 26050228 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE Urokinase-type plasminogen activator (uPA) is a member of the serine protease family and can break down various components of the extracellular matrix to promote growth, invasion, and metastasis of several malignancies including breast cancer. 12198113 2002
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE Evidence has accumulated that urokinase-type plasminogen activator (uPA), its inhibitor (PAI-1) and receptor (uPAR) are involved in tumor invasion and metastasis. 9194591 1997
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE The urokinase-type plasminogen activator receptor (uPAR) has been implicated in tumor growth and metastasis. 20696135 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 GeneticVariation phenotype BEFREE It is well documented that the binding of urokinase-type plasminogen activator (uPA) to its receptor (uPAR), which has been implicated in cancer invasion and metastasis, is regulated by several inhibitors such as maspin. 21833477 2011
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE We have also demonstrated previously that transforming growth factor-beta1 (TGF-beta1) stimulates urokinase-type plasminogen activator (uPA)-dependent invasion and metastasis of HRA cells. 14597629 2004
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE Stromal cells also contribute to breast cancer growth and metastasis through the production of extracellular matrix (ECM) modifiers such as urokinase type plasminogen activator (uPA), its receptor (uPAR), its inhibitors (PAI-1 and PAI-2), matrix metalloproteinases (MMPs), and growth factors, including the fibroblast and insulin-like growth factors (FGF's and IGF's). 12574821 2003
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE Taking into account the role of uPA and PAI in cell detachment, formation of new stroma, tumor cell reimplantation and metastasis uPA inhibition should be further investigated as maintenance treatment in patients with advanced EOC. 27345498 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression phenotype BEFREE Patients with visceral metastasis and more than one metastatic site were significantly more likely to present with elevated uPA levels. 30783124 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE NF-kappaB-mediated expression of genes involved in angiogenesis (IL-8, VEGF), and invasion and metastasis (MMP9, uPA, uPA receptor) may further contribute to the progression of prostate cancer. 14689584 2004