Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0021390
Disease: Inflammatory Bowel Diseases
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
PLAU ; C10orf55
CUI: C0021390
Disease: Inflammatory Bowel Diseases
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
PLAU ; C10orf55
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576

2018
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0010346
Disease: Crohn 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: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0002395
Disease: Alzheimer's 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: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0002395
Disease: Alzheimer's 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
PLAU ; C10orf55
CUI: C0005779
Disease: Blood Coagulation Disorders
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
PLAU ; C10orf55
CUI: C0010054
Disease: Coronary Arteriosclerosis
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
PLAU ; C10orf55
CUI: C1956346
Disease: Coronary Artery 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
PLAU ; C10orf55
CUI: C0010068
Disease: Coronary heart 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
PLAU ; C10orf55
CUI: C1306459
Disease: Primary malignant neoplasm
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
PLAU ; C10orf55
CUI: C0006826
Disease: Malignant Neoplasms
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
PLAU ; C10orf55
CUI: C0027051
Disease: Myocardial Infarction
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
PLAU ; C10orf55
CUI: C1140680
Disease: Malignant neoplasm of ovary
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
PLAU ; C10orf55
CUI: C0919267
Disease: ovarian neoplasm
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
PLAU ; C10orf55
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
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
PLAU ; C10orf55
CUI: C0027651
Disease: Neoplasms
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