PLAT, plasminogen activator, tissue type, 5327

N. diseases: 392; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777692567
rs777692567
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
CUI: C0600433
Disease:
Activated Protein C Resistance
0.020 GeneticVariation BEFREE Over a 36-month period, 46 consecutive Mexican mestizos with a clinical marker associated with a primary hypercoagulable state were prospectively assessed by searching for the sticky platelet syndrome (SPS), the activated protein C resistance (aPCR) phenotype, coagulation protein C activity and antigen, coagulation protein S, antithrombin III, plasminogen, tissue-type plasminogen activator activity, plasminogen activator inhibitor activity, plasminogen activator inhibitor type 1, IgG and IgM isotypes of antiphospholipid antibodies, homocysteine levels, the factor V gene Leiden, Cambridge, Hong Kong, and Liverpool mutations, the 677 C-->T mutation in the 5,10-methylenetetrahydrofolatereductase (MTHFR), and the G20210A polymorphism in the 3'-untranslated region of the prothrombin gene. 15609280 2005
dbSNP: rs777692567
rs777692567
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
CUI: C0600433
Disease:
Activated Protein C Resistance
0.020 GeneticVariation BEFREE In addition, the activated protein C resistance phenotype, coagulation protein C activity and antigen, coagulation protein S, antithrombin III, plasminogen, tissue-type plasminogen activator activity, plasminogen activator inhibitor activity, plasminogen activator inhibitor type 1, IgG and IgM isotypes of anti-phospholipid antibodies, homocysteine levels, the factor V gene Leiden mutation, the 677 C->T mutation in the 5,10-methylen-tetrahydrofolate-reductase (MTHFR), and the G20210A polymorphism in the 3'-untranslated region of the prothrombin gene were studied. 12361206 2002
dbSNP: rs63020761
rs63020761
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
CUI: C0038454
Disease:
Cerebrovascular accident
0.010 GeneticVariation BEFREE There was a significant association between stroke severity and tPA rs63020761 TT allele (aOR = 1.96; 95% CI = 1.03-3.72; P = .040). 20472470 2011
dbSNP: rs751671151
rs751671151
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
CUI: C0242339
Disease:
Dyslipidemias
0.010 GeneticVariation BEFREE Dyslipidemia and TAFI Thr325Ile polymorphism were the main variables associated with recanalization resistance by the end of t-PA infusion: odds ratio (OR) 4.1 [95% confidence interval (95% CI) 1.6-10.8, P = 0.003] and OR 5.6 (95% CI 1.2-20, P = 0.031), respectively. 17723126 2007
dbSNP: rs777692567
rs777692567
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
CUI: C0584960
Disease:
Factor V Leiden mutation
0.010 GeneticVariation BEFREE The three genes were involved in thrombophilia: factor V Leiden (G1691A), prothrombin (G20210A), Methylenetetrahydrofolate Reductase (MTHFR C677T) and one in hypofibrinolysis: Tissue Plasminogen Activator (PLAT TPA25 I/D). 24025446 2013
dbSNP: rs8178750
rs8178750
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation BEFREE The frequency of the G-T haplotype at rs7007329-rs8178750 was significantly higher in the IS group (1.2%) as compared to the control group (0.0%) (p = 0.003). 16953275 2006
dbSNP: rs1804182
rs1804182
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
A 0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
dbSNP: rs8178895
rs8178895
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
CUI: C2938940
Disease:
Post stroke depression
0.010 GeneticVariation BEFREE We identified significant gene-gene interactions between the p11 (rs11204922 SNP), tPA (rs8178895, rs2020918 SNPs) and BDNF (rs6265, rs2049046, rs16917271, rs727155 SNPs) genes in the PSD group. 29028593 2018
dbSNP: rs777692567
rs777692567
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
CUI: C1840061
Disease:
SMALL PATELLA SYNDROME
0.010 GeneticVariation BEFREE Over a 36-month period, 46 consecutive Mexican mestizos with a clinical marker associated with a primary hypercoagulable state were prospectively assessed by searching for the sticky platelet syndrome (SPS), the activated protein C resistance (aPCR) phenotype, coagulation protein C activity and antigen, coagulation protein S, antithrombin III, plasminogen, tissue-type plasminogen activator activity, plasminogen activator inhibitor activity, plasminogen activator inhibitor type 1, IgG and IgM isotypes of antiphospholipid antibodies, homocysteine levels, the factor V gene Leiden, Cambridge, Hong Kong, and Liverpool mutations, the 677 C-->T mutation in the 5,10-methylenetetrahydrofolatereductase (MTHFR), and the G20210A polymorphism in the 3'-untranslated region of the prothrombin gene. 15609280 2005
dbSNP: rs777692567
rs777692567
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
CUI: C2609046
Disease:
Sticky platelet syndrome
0.010 GeneticVariation BEFREE Over a 36-month period, 46 consecutive Mexican mestizos with a clinical marker associated with a primary hypercoagulable state were prospectively assessed by searching for the sticky platelet syndrome (SPS), the activated protein C resistance (aPCR) phenotype, coagulation protein C activity and antigen, coagulation protein S, antithrombin III, plasminogen, tissue-type plasminogen activator activity, plasminogen activator inhibitor activity, plasminogen activator inhibitor type 1, IgG and IgM isotypes of antiphospholipid antibodies, homocysteine levels, the factor V gene Leiden, Cambridge, Hong Kong, and Liverpool mutations, the 677 C-->T mutation in the 5,10-methylenetetrahydrofolatereductase (MTHFR), and the G20210A polymorphism in the 3'-untranslated region of the prothrombin gene. 15609280 2005
dbSNP: rs777692567
rs777692567
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
CUI: C0085292
Disease:
Stiff-Person Syndrome
0.010 GeneticVariation BEFREE Over a 36-month period, 46 consecutive Mexican mestizos with a clinical marker associated with a primary hypercoagulable state were prospectively assessed by searching for the sticky platelet syndrome (SPS), the activated protein C resistance (aPCR) phenotype, coagulation protein C activity and antigen, coagulation protein S, antithrombin III, plasminogen, tissue-type plasminogen activator activity, plasminogen activator inhibitor activity, plasminogen activator inhibitor type 1, IgG and IgM isotypes of antiphospholipid antibodies, homocysteine levels, the factor V gene Leiden, Cambridge, Hong Kong, and Liverpool mutations, the 677 C-->T mutation in the 5,10-methylenetetrahydrofolatereductase (MTHFR), and the G20210A polymorphism in the 3'-untranslated region of the prothrombin gene. 15609280 2005
dbSNP: rs367827951
rs367827951
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
CUI: C1269955
Disease:
Tumor Cell Invasion
0.010 GeneticVariation BEFREE Similar approaches are conducted using analysis of miRNA expression as well as Mucin or markers of invasion (S100P, S100A6, PLAT or PLAU). 25152579 2014