Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2
Gene Symbol: A2M
A2M
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.010 GeneticVariation BEFREE In addition, to compare the rate of elevated alpha2MG and prothrombotic risk factors [factor V G1691A, prothrombin G20210A, raised lipoprotein (a)] between patients and controls and to evaluate the interaction between elevated alpha2MG levels and other thrombophilias, odds ratios (ORs) together with 95% confidence intervals (CIs) were estimated using a logistic regression model. 17403113

2007

Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.030 Biomarker BEFREE Clinical data were collected and a systematic thrombophilia screening was performed together with ABO blood group assessment. 26290123

2016

Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.030 Biomarker BEFREE ABO blood group and procoagulant factors: the hypercoagulation hypothesis ABO and Procoagulant Factors. 31158844

2019

Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.030 AlteredExpression BEFREE We investigated the effect of ABO genotypes on VWF and factor VIII (FVIII) levels and on the degree to which VWF is loaded with A- and B-antigens, expressed as normalized ratios, nA-ratio and nB-ratio, respectively, in the Leiden Thrombophilia Study, a large case-control study on venous thrombosis. 17393014

2007

Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.010 GeneticVariation BEFREE PVT is a potential complication of IBD, usually associated with acquired or inherited risks factors for hypercoagulability and with a benign outcome. 22405175

2012

Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.040 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: 1636
Gene Symbol: ACE
ACE
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.040 GeneticVariation BEFREE Our data do not support the inclusion of ACE I/D polymorphism testing in clinical thrombophilia workups until more compelling data are made available. 19833623

2011

Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.040 GeneticVariation BEFREE Our findings suggest that the ACE/DD genotype is associated with hemostasis balance disturbances reflecting hypercoagulability and endothelial damage in patients with untreated hypertension. 11054622

2000

Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.040 GeneticVariation BEFREE The purpose of this study was to investigate the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) genotype and endothelial cell dysfunction or hypercoagulable state in elderly hypertensive patients. 9708474

1998

Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.030 Biomarker BEFREE A disintegrin-like and metalloproteinase with thrombospondin type-1 motifs 13 (ADAMTS13) and von Willebrand factor (VWF) are associated with the pathophysiology of liver cirrhosis and HCC through their roles in hypercoagulability; they are also associated with angiogenesis <i>via</i> vascular endothelial growth factor (VEGF). 31139312

2019

Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.030 AlteredExpression BEFREE Insights on the role that renal dysfunction and other possible mechanisms may have in ADAMTS13 metabolism, leading to reduced levels of this enzyme and increased hypercoagulability are also presented. 23159842

2013

Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.030 Biomarker BEFREE These results suggest that the imbalance between VWF secretion and ADAMTS-13 may play a critical role in the hypercoagulability state in advanced NSCLC. 28374895

2018

Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.020 AlteredExpression BEFREE MQEP may play a protective role against nontraumatic ONFH by increasing the expression of adiponectin, regulating bone metabolism and improving the hypercoagulation state, which may provide an experimental base for its clinical effects. 27154871

2017

Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.020 Biomarker BEFREE Adiponectin alleviates blood hypercoagulability via inhibiting endothelial cell apoptosis induced by oxidative stress in septic rats. 30524674

2018

Entrez Id: 177
Gene Symbol: AGER
AGER
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.010 Biomarker BEFREE PAD4 and RAGE knockout mice, deficient in NET formation, were used to study the role of NETs in platelet aggregation, release of tissue factor and hypercoagulability. 29929491

2018

Entrez Id: 196
Gene Symbol: AHR
AHR
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.010 Biomarker BEFREE Ongoing development of therapeutic strategies augmenting CD39 ectonucleotidase bioactivity via cytokines or AHR ligands offers promise for management of thrombophilia, disordered inflammation, and aberrant immune reactivity in IBD. 28547076

2017

Entrez Id: 50808
Gene Symbol: AK3
AK3
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.020 AlteredExpression BEFREE FIX-Triple knock-in mice that exhibited 10-fold higher FIX clotting activity did not show hypercoagulation. 20539913

2010

Entrez Id: 50808
Gene Symbol: AK3
AK3
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.020 GeneticVariation BEFREE The association of high levels of coagulation FXI, FIX and FVIII is thus a new rare high-risk inherited thrombophilia syndrome. 14521595

2003

Entrez Id: 213
Gene Symbol: ALB
ALB
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.020 Biomarker BEFREE VIIc and F1+2 also correlated with increased concentration of IL6 and fibrinogen, and inversely with albumin, suggesting that a persistent inflammatory response could contribute to a hypercoagulable state, possibly via cytokine induced activation of the endothelium, or by induction of monocytes to express tissue factor. 9550647

1998

Entrez Id: 213
Gene Symbol: ALB
ALB
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.020 Biomarker BEFREE Lower serum albumin in controlled HIV is associated with higher markers of chronic inflammation and hypercoagulation, which could explain the prior observation that serum albumin predicts nonacquired immune deficiency syndrome events in HIV. 30515432

2018

Entrez Id: 302
Gene Symbol: ANXA2
ANXA2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.010 AlteredExpression BEFREE We found that rAN II enhanced plasmin generation on vascular endothelium in vitro and reduced thrombus formation in vivo, and concluded that enhancement of endothelial fibrinolytic activity by annexin II could modulate the hypercoagulable state of atherosclerosis. 11739291

2001

Entrez Id: 308
Gene Symbol: ANXA5
ANXA5
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.040 Biomarker BEFREE This study confirmed the proposed role of M2/ANXA5 as embryonic, genetically associated thrombophilia predisposition factor for early RPL among ethnic Malay of Malaysia. 28108842

2017

Entrez Id: 308
Gene Symbol: ANXA5
ANXA5
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.040 Biomarker BEFREE These findings support the proposed physiological function of ANXA5 as an embryonic anticoagulant that appears deficient in contiguous specter of thrombophilia-related pregnancy complications culminating more frequently in miscarriage in a maternal M2 carrier background. 28900802

2018

Entrez Id: 308
Gene Symbol: ANXA5
ANXA5
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.040 GeneticVariation BEFREE The aim of this study was to analyze the contribution of the M2 haplotype of ANXA5 gene, previously identified as a risk factor for RPL and thrombophilia related pregnancy complications, to repeated miscarriage observed in PCOS patients. 23498654

2013

Entrez Id: 308
Gene Symbol: ANXA5
ANXA5
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.040 AlteredExpression BEFREE This concise review summarizes the role of reduced ANXA5 expression through carriage of the M2/ANXA5 haplotype as a predisposing factor for various thrombophilia related obstetric complications. 22635237

2012