Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE The prevalence of the following genetic variants was determined: F5 c.1601G>A (factor V Leiden), F2 c.*97G>A (factor II or prothrombin mutation), F13A1 (factor XIII) c.103G>T, MTHFR (methylenetetrahydrofolate reductase) c.665C>T and c.1286A>C, as well as PAI-1 (plasminogen activator inhibitor 1) c.-816A>G and c.-844G>A as markers of thrombophilia risk, and *2 and *3 alleles of CYP2C9 (cytochrome P450 2C9) and five variants of VKORC1 (vitamin K epoxide reductase complex subunit 1) as markers of warfarin pharmacogenetics. 31187948

2019

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Polymorphism of MTHFR (677C > T and 1298A > C), PAI1 (-675 5G/4G and -844A > G), and F2 (20210G > A), and the F5 Leiden mutation, as well as biochemical parameters for hypercoagulability, were analysed. 31389788

2019

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker BEFREE We provided evidence of an underlying alteration of vascular network related to increased coagulation components, and fibrinolysis inhibitor levels in healthy women with history RPL; therefore, calibrated automated thrombography global assay and testing for FVIII and PAI-1 would be advisable in clinical practice to evaluate the hypercoagulable status in RPL women planning future pregnancy. 29135477

2018

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker BEFREE This study is a prospective observational cohort study; Hypercoagulability and inflammatory biomarkers including:(1) Coagulation and fibrinolysis activation Markers (D-dimer, Fibrinogen, Antithrombin, plasminogen activator inhibitor 1 [PAI-1]);(2) Endothelium and platelet activation Markers (von Willebrand Factor [vWF], soluble P-selectin); and (3) Inflammation Markers (Tumor necrosis factor alpha [TNF-α], Interleukin-6 [IL-6]) were assayed on a group of 171 patients with hematological malignancies at time of diagnosis. 28823228

2018

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE RESULTS In this study, we have observed statistically meaningful data (P<0.01) related to the relationship between RPL and thrombophilia-associated gene polymorphisms such as heterozygous factor V Leiden H1299R, heterozygous prothrombin G20210A, PAI-1 4G/5G, and PAI-1 4G/4G. 29932168

2018

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker BEFREE The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome. 30334491

2018

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE All participants underwent screening for thrombophilia-associated polymorphisms including factor V Leiden (FVL), prothrombin G20210A (PTG), factor V H1299 R (factor V HR2), factor XIII V34 L, β-fibrinogen-455 G>A, plasminogen activator inhibitor-1 4G/5G, human platelet antigen-1 a/b, methylene tetrahydrofolate reductase (MTHFR) C677 T, MTHFR A1298C, angiotensin-converting enzyme I/D, apolipoprotein B R3500Q, and apolipoprotein E (Apo E). 27729560

2018

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker BEFREE A positive association between other inherited thrombophilias (homozygous 20210 prothrombin gene mutation and homozygous factor V Leiden) and IUGR of unknown cause was also found, P = .096, OR 6.106 (CI 95% 0.72-51.30), although it was not statistically significant (P = .096, OR = 6.106, CI 95% 0.72-51.30).Our results indicate that PAI-1 and MTHFR thrombophilias represent risk factors for IUGR of otherwise unidentified cause. 30313110

2018

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression BEFREE Normal pregnancy is a state of hypercoagulability with diminishing fibrinolytic activity, which is mainly caused by an increase of plasminogen activator inhibitor type 1 (PAI-1). 28758928

2017

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression BEFREE Genetic variations of the serine proteinase inhibitor family E member 1 (SERPINE1) gene, which encodes plasminogen activator inhibitor 1, correlate with serum levels of its product and are associated with thrombophilia and coronary atherosclerosis. 28599907

2017

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker BEFREE PAI-1 4G/4G is a strong risk factor for venous thrombosis in Indian patients and should be included in laboratory testing panel of thrombophilia. 28561456

2017

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE The aim of this study was to estimate frequency of thrombophilia-associated genotypes (FII20210G > A, FV1691G > A, MTHFR677C > T and PAI-1 -675 4G/5G) in a group of 1631 Serbian women experiencing reproductive failure, and compare it with a healthy, female control group. 27855570

2017

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Correlation with Platelet Parameters and Genetic Markers of Thrombophilia Panel (Factor II g.20210G>A, Factor V Leiden, MTHFR (C677T, A1298C), PAI-1, β-Fibrinogen, Factor XIIIA (V34L), Glycoprotein IIIa (L33P)) in Ischemic Strokes. 26951304

2016

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression BEFREE A detailed thrombophilia workup demonstrated persistently elevated plasminogen activator inhibitor 1 (PAI-1) activity levels, with an elevated PAI-1 antigen concentration and homozygosity for the PAI-1 4G allele (4G/4G genotype). 27287941

2016

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Among genetic thrombophilia, the risk of PL was highest with protein S deficiency (16%, p=0.006) followed by plasminogen activator inhibitor-1 4G/4G (23%, p=0.007) polymorphism. 26227844

2015

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression BEFREE Elevated PAI-1 level leading to impaired fibrinolysis plays a significant role in producing hypercoagulable state in primary and secondary APS. 23519427

2013

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Thus, this mini-review aims to address a comprehensive summary of thrombophilias and thrombosis, and discuss the role of polymorphisms in Factor V (FV Leiden), Prothrombin, Plasminogen activator inhibitor type-1 (PAI-1), Methylenetetrahydrofolate reductase (MTHFR) and Cystathionine β-synthase (CBS) genes as risk factors for thrombophilias. 22512572

2012

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression BEFREE Consequently, expression of tissue factor, urokinase receptor, and PAI-1 mRNA and PAI-1 protein secretion induced by busulfan were significantly reduced by the activin A/TGF-β1 inhibitor SB 431542 in ECV304 and primary endothelial cells.Conclusions This is the first report that directly relates busulfan exposure to antifibrinolytic activity by PAI-1 and hypercoagulation possibly mediated by members of the TGF-β1 family. 22286157

2012

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE When considering the variants of the PAI-1 promoter genotype in combination with known genetical thrombophilias, no differences were found either. 22527222

2012

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Two are associated with thrombophilia (765 4G/5G and -844 A>G, in the promoter), risk of myocardial infarction and postoperative deep venous thrombosis related to higher than normal levels of PAI-1. 21663586

2011

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE The authors used polymerase chain reaction (PCR) measures for thrombophilia (FVL, PTG, C677T-A1298C methylenetetrahydrofolate reductase [MTHFR], platelet glycoprotein PLA1A2) and hypofibrinolysis (plasminogen activator inhibitor-1 4G4G). 18796459

2009

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker BEFREE Elevated plasma concentrations of plasminogen activator inhibitor type 1 (PAI-1), also named serpin E1, are encountered in patients with thrombophilia, atherosclerosis, septicemia and the metabolic syndrome and may be associated with an increased risk of complications. 19132219

2008

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Forty-one patients with a first episode of a retinal artery occlusion underwent complete ophthalmic examination, routine blood testing and specific laboratory tests for thrombophilia, such as fasting and postmethionine homocysteine, lipoprotein(a), plasminogen activator inhibitor-1, factor VIII, factor V Leiden, factor II G20210A polymorphism, lupus anticoagulant and anticardiolipin antibodies. 17473572

2007

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker BEFREE Since NF-kappaB-mediated gene products, such as fibrinogen and PAI-1, are known to facilitate hypercoagulation, thrombosis and vascular events, we suggest that nilvadipine has a direct beneficial effect separate from its anti-hypertensive properties by inhibiting NF-kappaB-dependent gene expression and eventually inhibiting atherosclerosis. 15530472

2004

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE In conclusion, PAI-1 4G/5G polymorphism may influence PAI-1 expression and thrombotic risk in patients with inherited thrombophilia. 14653439

2003