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 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 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 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 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: 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 GeneticVariation disease LHGDN 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 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 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: 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 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 GeneticVariation phenotype BEFREE Urokinase (u-PA) and the u-PA receptor (u-PAR) influence tumor invasion and metastasis. 10599442 1999
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.400 GeneticVariation phenotype BEFREE C4.4A, a structural homologue of the urokinase-type plasminogen activator receptor (uPAR), was originally identified as a metastasis-associated membrane protein, but little is known about its structural and functional properties. 15012588 2004
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 GeneticVariation disease BEFREE The most commonly implicated protease in these processes is urokinase type plasminogen activator (uPA), which is known to be expressed in a number of malignancies including breast and prostate cancer and is directly associated with the higher invasive and metastatic potential of malignancies. 16305345 2005
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.370 GeneticVariation disease BEFREE In this study, we describe the ability of the urokinase-type plasminogen activator receptor (uPAR) promoter to efficiently and selectively target pancreatic tumors and metastases, which enables the successful management of pancreatic cancer. 19484141 2009
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.360 GeneticVariation group LHGDN Is urokinase gene 3'-UTR polymorphism associated with prostate cancer? 17192053 2005
CUI: C0004096
Disease: Asthma
Asthma 		0.340 GeneticVariation disease BEFREE To test for association between asthma and genetic variants of PLAU. 17363771 2007
CUI: C0004096
Disease: Asthma
Asthma 		0.340 GeneticVariation disease LHGDN We sequenced PLAU and tested for genetic association between identified variants and asthma-related traits in a French-Canadian familial collection (231 families, 1,139 subjects). 17363771 2007
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.330 GeneticVariation disease BEFREE 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: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.330 GeneticVariation disease BEFREE In subsequent analyses to detect main effects and gene-gene interactions, markers in three genes--urokinase-type plasminogen activator (PLAU), angiotensin 1 converting enzyme (ACE) and cell division cycle 2 (CDC2)--were found to be associated with LOAD in particular subsets of the data based on their LRRTM3 multilocus genotype. 18076107 2008
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.310 GeneticVariation disease BEFREE We investigated whether the PLAU P141L (C > T) polymorphism, which causes a mutation in the kringle domain of the protein, is associated with coronary collateral circulation in a cohort of 676 patients with coronary artery disease. 24952395 2014
CUI: C0242488
Disease: Acute Lung Injury
Acute Lung Injury 		0.210 GeneticVariation disease LHGDN Association between urokinase haplotypes and outcome from infection-associated acute lung injury. 17994220 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE There were 11 significant pathways were enriched, and one of the most significant pathway was transcriptional misregulation in cancer (P<0.01), which contained common cancer-related genes, such as DUSP6, ETV5, IL6, PLAU, PPARG and HMGA2. 29307852 2018