Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7056
Gene Symbol: THBD
THBD
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.040 Biomarker BEFREE Venous thromboembolism in carriers of the Factor V Leiden mutation and in patients without known thrombophilic risk factor; prediction of recurrence and APC-PCI complex concentration and/or soluble thrombomodulin antigen and activity. 17499343

2007
Entrez Id: 7056
Gene Symbol: THBD
THBD
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.040 GeneticVariation BEFREE Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor V HR2 haplotype), factor VII Arg353Gln, factor XIII Val34Leu, beta-fibrinogen -455G>A, prothrombin 20210G>A], coagulation inhibitors [tissue factor pathway inhibitor 536C>T, thrombomodulin 127G>A], fibrinolytic factors [angiotensin converting enzyme intron 16 insertion/deletion, factor VII-activating protease 1601G>A (FSAP Marburg I), plasminogen activator inhibitor 1-675 insertion/deletion (5G/4G), tissue plasminogen activator intron h deletion/insertion], and other factors implicated in influencing susceptibility to thromboembolic diseases [apolipoprotein E2/E3/E4, glycoprotein Ia 807C>T, methylenetetrahydrofolate reductase 677C>T] were included. 17003923

2006
Entrez Id: 7056
Gene Symbol: THBD
THBD
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.040 AlteredExpression BEFREE The TM level was significantly lower in patients with the FVL mutation than in patients without the mutation and in the healthy controls (p < 0.05 and p < 0.01). 9694049

1998
Entrez Id: 7056
Gene Symbol: THBD
THBD
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.040 Biomarker BEFREE In reactions without factor VIII, in which thrombin generation was downregulated by the addition of protein C and thrombomodulin, an increase of thrombin formation was observed with the factor V(LEIDEN) mutation. 9376587

1997