PLAU, plasminogen activator, urokinase, 5328

N. diseases: 439; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE We identified that one functional exonic SNP (rs2227564) is associated with development of AD using the four independent case-control samples (Munich, P=0.02; Bonn, P=0.005; Brescia (Italy), P=0.001; Perth (Australia), P=0.03) and the discordant sib-pair sample (P=0.001). 16825285 2006
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation 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
dbSNP: rs1338100379
rs1338100379
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE This translated to a 10-fold increase in tumor retention after 24 h compared to PAI-2(C161S), an effect not seen in non-target organs. 25231010 2015
dbSNP: rs145070893
rs145070893
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0025221
Disease:
Meleda Disease
0.010 GeneticVariation BEFREE Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. 20854438 2011
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE The PLAU P141L single nucleotide polymorphism is associated with collateral circulation in patients with coronary artery disease. 24952395 2014
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE We genotyped rs4065 [3'-UTR (untranslated region) *141C>T) and rs2227564 (Pro141Leu) in the PLAU gene as well as rs344781 (-516T>C) in the PLAUR gene in 633 MI patients and 1237 gender- and age-matched control subjects. 20518747 2010
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE The PLAU P141L single nucleotide polymorphism is associated with collateral circulation in patients with coronary artery disease. 24952395 2014
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C1140680
Disease:
Malignant neoplasm of ovary
0.010 GeneticVariation BEFREE In order to elucidate the possible role of the Pro121Leu exchange in uPA and the Ala/Thr variants in the signal sequence of PAI-1 in the development and/or progression of human ovarian cancer, we studied the presence of these mutants or variants in a series of 22 ovarian cancer tissues. 9194591 1997
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0919267
Disease:
ovarian neoplasm
0.010 GeneticVariation BEFREE In order to elucidate the possible role of the Pro121Leu exchange in uPA and the Ala/Thr variants in the signal sequence of PAI-1 in the development and/or progression of human ovarian cancer, we studied the presence of these mutants or variants in a series of 22 ovarian cancer tissues. 9194591 1997
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE In order to elucidate the possible role of the Pro121Leu exchange in uPA and the Ala/Thr variants in the signal sequence of PAI-1 in the development and/or progression of human ovarian cancer, we studied the presence of these mutants or variants in a series of 22 ovarian cancer tissues. 9194591 1997
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE This study investigated associations of a C-to-T polymorphism of uPA (P141L, rs2227564) in exon 6 in 454 Japanese health checkup examinees (126 males and 328 females) aged 35 to 85 without a history of cancer. 21627387 2011
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE The PLAU P141L single nucleotide polymorphism is associated with collateral circulation in patients with coronary artery disease. 24952395 2014
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE In addition to the wild-type sequence, the Pro121Leu exchange in the uPA sequence was detected in 10 out of 22 tumor tissues; 11 tumors carried exclusively the Pro121 allele; in one case exclusively the Leu121 allele was detected. 9194591 1997
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE This study investigated associations of a C-to-T polymorphism of uPA (P141L, rs2227564) in exon 6 in 454 Japanese health checkup examinees (126 males and 328 females) aged 35 to 85 without a history of cancer. 21627387 2011
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0005779
Disease:
Blood Coagulation Disorders
0.010 GeneticVariation BEFREE For instance, in a number of variants related to clotting disorders, the phenotype-associated allele is a human genome reference allele (rs6025, rs6003, rs1799983, and rs2227564 using the assembly hg19). 29334895 2018
dbSNP: rs4065
rs4065
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Logistic regression analysis revealed that individuals with uPA rs4065 TT genotype have higher odds ratios (ORs) for lung cancer. 20937265 2011
dbSNP: rs4065
rs4065
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Logistic regression analysis revealed that individuals with uPA rs4065 TT genotype have higher odds ratios (ORs) for lung cancer. 20937265 2011
dbSNP: rs4065
rs4065
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Logistic regression analysis revealed that individuals with uPA rs4065 TT genotype have higher odds ratios (ORs) for lung cancer. 20937265 2011
dbSNP: rs4065
rs4065
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE Our results revealed that genetic polymorphisms of the uPA rs4065 C/T and uPAR rs344781 (-516 T/C) were associated with the susceptibility and severity of NSCLC. 20937265 2011
dbSNP: rs756402191
rs756402191
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE The lung-enriched p53 mutants V157F and R158L/P regulate a gain of function transcriptome in lung cancer. 31067569 2020
dbSNP: rs756402191
rs756402191
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The lung-enriched p53 mutants V157F and R158L/P regulate a gain of function transcriptome in lung cancer. 31067569 2020
dbSNP: rs756402191
rs756402191
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE The lung-enriched p53 mutants V157F and R158L/P regulate a gain of function transcriptome in lung cancer. 31067569 2020
dbSNP: rs778612720
rs778612720
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The canonical p53 hotspot mutants R175H and R273H, for example, confer upon tumors a metastatic phenotype in murine models of mutant p53. 31067569 2020
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
C 0.800 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
dbSNP: rs2227551
rs2227551
Entrez Id: 5328
Gene Symbol: PLAU
PLAU
CUI: C0038013
Disease:
Ankylosing spondylitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016