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: 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
dbSNP: rs2227551
rs2227551
Entrez Id: 5328
Gene Symbol: PLAU
PLAU
CUI: C0033860
Disease:
Psoriasis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs2227551
rs2227551
Entrez Id: 5328
Gene Symbol: PLAU
PLAU
CUI: C0009324
Disease:
Ulcerative Colitis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs2227551
rs2227551
Entrez Id: 5328
Gene Symbol: PLAU
PLAU
CUI: C0008313
Disease:
Cholangitis, Sclerosing 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs2227551
rs2227551
Entrez Id: 5328
Gene Symbol: PLAU
PLAU
CUI: C0010346
Disease:
Crohn Disease 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs2227551
rs2227551
Entrez Id: 5328
Gene Symbol: PLAU
PLAU
CUI: C0010346
Disease:
Crohn Disease 		A 0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
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: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0010346
Disease:
Crohn Disease 		0.700 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
dbSNP: rs2227551
rs2227551
Entrez Id: 5328
Gene Symbol: PLAU
PLAU
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs55744193
rs55744193
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs2227564
rs2227564
Entrez Id: 5328;414236
Gene Symbol: PLAU;C10orf55
PLAU;C10orf55
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		C 0.800 GeneticVariation GWASDB Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
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: 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: 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: 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: 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: 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: 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