DisGeNET - a database of gene-disease associations

PLAU, plasminogen activator, urokinase, 5328

N. diseases: 439; N. variants: 8

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs2227564

Entrez Id:	5328;414236
Gene Symbol:	PLAU;C10orf55

PLAU;C10orf55

CUI:	C0021390
Disease:

Inflammatory Bowel Diseases

0.800

GeneticVariation

GWASDB

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

23128233

2012

dbSNP:

rs2227564

Entrez Id:	5328;414236
Gene Symbol:	PLAU;C10orf55

PLAU;C10orf55

CUI:	C0021390
Disease:

Inflammatory Bowel Diseases

0.800

GeneticVariation

GWASCAT

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

23128233

2012

dbSNP:

rs2227551

Entrez Id:	5328
Gene Symbol:	PLAU

PLAU

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs2227564

Entrez Id:	5328;414236
Gene Symbol:	PLAU;C10orf55

PLAU;C10orf55

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Co-regulatory networks of human serum proteins link genetics to disease.

30072576

2018

dbSNP:

rs55744193

Entrez Id:	5328;414236
Gene Symbol:	PLAU;C10orf55

PLAU;C10orf55

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

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

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

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

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

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

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

Entrez Id:	5328
Gene Symbol:	PLAU

PLAU

CUI:	C0010346
Disease:

Crohn Disease

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

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:

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:

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

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

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

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

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:

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:

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

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

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:

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

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