Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9567
Gene Symbol: GTPBP1
GTPBP1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.010 AlteredExpression BEFREE Plasma beta 2-GP I levels were measured in healthy volunteers and four different groups of patients with (familial) thrombophilia. 1509404

1992

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 AlteredExpression BEFREE In 107 asymptomatic and untreated patients with inherited syndromes associated with thrombophilia (antithrombin III, protein C and protein S deficiencies), we compared in parallel two plasma peptides which reflect activation of the common coagulation pathway: the prothrombin fragment 1 + 2 (F1 + 2) and fibrinopeptide A (FPA). 1535736

1992

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE In 107 asymptomatic and untreated patients with inherited syndromes associated with thrombophilia (antithrombin III, protein C and protein S deficiencies), we compared in parallel two plasma peptides which reflect activation of the common coagulation pathway: the prothrombin fragment 1 + 2 (F1 + 2) and fibrinopeptide A (FPA). 1535736

1992

Entrez Id: 7056
Gene Symbol: THBD
THBD
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.700 Biomarker BEFREE A frequent thrombomodulin amino acid dimorphism is not associated with thrombophilia. 1651567

1991

Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE At present, different congenital defects in several proteins--antithrombin III (AT III), protein C (PC), protein S (PS), and plasminogen (PLG)--are known to be causes of hereditary predisposition to thrombosis (thrombophilia). 1826407

1991

Entrez Id: 5555
Gene Symbol: PRH2
PRH2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.040 GeneticVariation BEFREE At present, different congenital defects in several proteins--antithrombin III (AT III), protein C (PC), protein S (PS), and plasminogen (PLG)--are known to be causes of hereditary predisposition to thrombosis (thrombophilia). 1826407

1991

Entrez Id: 5554
Gene Symbol: PRH1
PRH1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.040 GeneticVariation BEFREE At present, different congenital defects in several proteins--antithrombin III (AT III), protein C (PC), protein S (PS), and plasminogen (PLG)--are known to be causes of hereditary predisposition to thrombosis (thrombophilia). 1826407

1991

Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression BEFREE However, a screening hypercoagulation profile indicated low functional levels of plasminogen activity. 1962336

1991

Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker BEFREE Elevated plasminogen activator inhibitor (PAI), a cause of thrombophilia? A study in 203 patients with familial or sporadic venous thrombophilia. 2683188

1989

Entrez Id: 3053
Gene Symbol: SERPIND1
SERPIND1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.320 Biomarker BEFREE The tests included in the second step of the screening are aimed at detecting the less common or less well established causes of inherited thrombophilia (low heparin cofactor II, defective release of tissue plasminogen activator, and high plasminogen activator inhibitor). 3116699

1987

Entrez Id: 3273
Gene Symbol: HRG
HRG
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.130 GeneticVariation BEFREE Familial elevation of plasma histidine-rich glycoprotein in a family with thrombophilia. 3689697

1987

Entrez Id: 100505909
Gene Symbol: LOC100505909
LOC100505909
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.010 GeneticVariation BEFREE Familial elevation of plasma histidine-rich glycoprotein in a family with thrombophilia. 3689697

1987

Entrez Id: 1468
Gene Symbol: SLC25A10
SLC25A10
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.010 Biomarker BEFREE These studies suggest that protein C is important not only in the congenital deficiencies, but also in acquired deficiencies, such as during DIC or possibly the postsurgical hypercoagulable state. 3840918

1985

Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Abnormal plasminogen: a genetically determined cause of hypercoagulability. 6208389

1984

Entrez Id: 5624
Gene Symbol: PROC
PROC
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker BEFREE Inherited resistance to activated protein C (APC) was recently recognized as a novel cause underlying venous thrombophilia. 7590506

1995

Entrez Id: 5624
Gene Symbol: PROC
PROC
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker BEFREE The situation changed with the discovery of inherited resistance to activated protein C (APC) as a novel mechanism for familial thrombophilia. 7632412

1995

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE The clinical history of 238 patients with inherited thrombophilia (AT III = 94, PC = 103, PS = 41) was analyzed retrospectively at diagnosis and in the follow-up period after diagnosis. 7855783

1994

Entrez Id: 101054525
Gene Symbol: PGR-AS1
PGR-AS1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.020 GeneticVariation BEFREE The clinical history of 238 patients with inherited thrombophilia (AT III = 94, PC = 103, PS = 41) was analyzed retrospectively at diagnosis and in the follow-up period after diagnosis. 7855783

1994

Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.020 GeneticVariation BEFREE The clinical history of 238 patients with inherited thrombophilia (AT III = 94, PC = 103, PS = 41) was analyzed retrospectively at diagnosis and in the follow-up period after diagnosis. 7855783

1994

Entrez Id: 5624
Gene Symbol: PROC
PROC
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker BEFREE Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. 7902898

1994

Entrez Id: 5624
Gene Symbol: PROC
PROC
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker BEFREE Resistance to activated protein C (APC) is a major cause of familial thrombophilia, and can be corrected by an anticoagulant activity expressed by purified factor V. We investigated linkage between APC resistance and the factor V gene in a large kindred with familial thrombophilia. 7911873

1994

Entrez Id: 5624
Gene Symbol: PROC
PROC
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker BEFREE An abnormal anticoagulant response in vitro to activated protein C (aPC) has been proposed as an aetiological factor in familial thrombophilia. 7986734

1994

Entrez Id: 5624
Gene Symbol: PROC
PROC
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 AlteredExpression BEFREE A poor anticoagulant response to activated protein C (APC) in an activated partial thromboplastin time (aPTT) assay (APC resistance) was recently reported to be a cause of familial thrombophilia. 8180338

1994

Entrez Id: 3273
Gene Symbol: HRG
HRG
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.130 AlteredExpression BEFREE These new families confirm that genetically transmitted high levels of HRG could be associated to familial and juvenile thrombophilia. 8475479

1993

Entrez Id: 5624
Gene Symbol: PROC
PROC
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker BEFREE After activation, mutated factor V, FV:Q506, is less efficiently degraded by APC than normal factor V, which results in increased thrombin generation and a hypercoagulable state. 8578447

1995