Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.180 Biomarker HPO

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.110 Biomarker HPO

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.110 Biomarker HPO

Entrez Id: 93183
Gene Symbol: PIGM
PIGM
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.110 Biomarker HPO

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.100 Biomarker HPO

Entrez Id: 54790
Gene Symbol: TET2
TET2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.100 Biomarker HPO

Entrez Id: 4233
Gene Symbol: MET
MET
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.100 Biomarker HPO

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.080 Biomarker BEFREE This study demonstrates that factor V Leiden is not common in children with PVT, and is not a prerequisite for this thrombotic event. 9157577

1997

Entrez Id: 1351
Gene Symbol: COX8A
COX8A
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.020 GeneticVariation BEFREE Portal vein thrombosis in a patient with severe haemophilia A and F V G1691A mutation during continuous infusion of F VIII after intramural jejunal bleeding--successful thrombolysis under heparin therapy. 10650865

1999

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.100 GeneticVariation BEFREE The factor V (FV) G1691A mutation, the prothrombin (PT) G20210A variant, the methylenetetrahydrofolate reductase (MTHFR) T677T genotype, together with fasting homocysteine (HCY) concentration, lipoprotein (Lp)(a), anti-thrombin (AT), protein C (PC), protein S (PS) and anti-cardiolipin antibodies were investigated in 65 consecutively recruited infants (neonate to < 12 months) with renal venous thrombosis (RVT; n = 31), portal vein thrombosis (PVT; n = 24) or hepatic vein thrombosis (HVT n = 10), and 100 age- and sex-matched healthy controls. 11122096

2000

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.080 GeneticVariation BEFREE The frequencies of FVL, PTHR A(20210) mutation, and homozygous MTHFR C(677)-->T were 13%, 34.8%, and 43.5% in cirrhotic patients with PVT and 7.5%, 2.5%, and 5% in cirrhotic patients without PVT, respectively. 10655256

2000

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.050 GeneticVariation BEFREE The frequencies of FVL, PTHR A(20210) mutation, and homozygous MTHFR C(677)-->T were 13%, 34.8%, and 43.5% in cirrhotic patients with PVT and 7.5%, 2.5%, and 5% in cirrhotic patients without PVT, respectively. 10655256

2000

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.050 GeneticVariation BEFREE The factor V (FV) G1691A mutation, the prothrombin (PT) G20210A variant, the methylenetetrahydrofolate reductase (MTHFR) T677T genotype, together with fasting homocysteine (HCY) concentration, lipoprotein (Lp)(a), anti-thrombin (AT), protein C (PC), protein S (PS) and anti-cardiolipin antibodies were investigated in 65 consecutively recruited infants (neonate to < 12 months) with renal venous thrombosis (RVT; n = 31), portal vein thrombosis (PVT; n = 24) or hepatic vein thrombosis (HVT n = 10), and 100 age- and sex-matched healthy controls. 11122096

2000

Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.020 GeneticVariation BEFREE The factor V (FV) G1691A mutation, the prothrombin (PT) G20210A variant, the methylenetetrahydrofolate reductase (MTHFR) T677T genotype, together with fasting homocysteine (HCY) concentration, lipoprotein (Lp)(a), anti-thrombin (AT), protein C (PC), protein S (PS) and anti-cardiolipin antibodies were investigated in 65 consecutively recruited infants (neonate to < 12 months) with renal venous thrombosis (RVT; n = 31), portal vein thrombosis (PVT; n = 24) or hepatic vein thrombosis (HVT n = 10), and 100 age- and sex-matched healthy controls. 11122096

2000

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.100 GeneticVariation BEFREE The inherited deficiencies of protein C, protein S, antithrombin III, factor V Leiden mutation, prothrombin gene polymorphism, and antiphospholipids were studied in 53 Budd-Chiari syndrome (BCS) and 33 portal vein thrombosis (PVT) cases and compared with 223 age- and sex-matched controls. 11584361

2001

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.080 Biomarker BEFREE Factor V Leiden was the most common risk factor, i.e., 14 of 53 (26.4%) in BCS cases followed by protein C, as compared with PVT cases, i.e., 2 of 33 (6.06%) and controls, i.e., 5 of 223 (2.3%). 11584361

2001

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.100 GeneticVariation BEFREE Most patients were in class Child-Pugh B and C. Among thrombophilic risk factors studied only the mutation 20210 of the prothrombin gene resulted independently associated to PVT. 15094219

2004

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.100 Biomarker BEFREE The following variables were related to PVT: prothrombin levels, platelet count, Child-Pugh classification, previous abdominal surgery, number of decompensation events, size of varices, red markers on varices, and sclerotherapy. 15947552

2005

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.080 GeneticVariation BEFREE We compared frequencies of three common prothrombotic mutations (factor V Leiden, the G20210A mutation of the prothrombin gene, and homozygosity for C677T methylenetetrahydrofolate reductase) in 219 cirrhotic patients, 43 with and 176 without portal vein thrombosis (PVT). 15947552

2005

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.080 GeneticVariation BEFREE Five of 17 (29%) of cirrhotic patients with PVT but only two of 57 (3.5%) of cirrhotics without PVT, five of 80 (6%) of controls and none of the 19 non-cirrhotic patients with PVT had factor V Leiden G1691A mutation (P<0.05). 15716659

2005

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.050 GeneticVariation BEFREE We compared frequencies of three common prothrombotic mutations (factor V Leiden, the G20210A mutation of the prothrombin gene, and homozygosity for C677T methylenetetrahydrofolate reductase) in 219 cirrhotic patients, 43 with and 176 without portal vein thrombosis (PVT). 15947552

2005

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.100 GeneticVariation BEFREE Prothrombin G20210A gene variant does not contribute to the development of PVT in India. 16283309

2006

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.100 GeneticVariation BEFREE Plasma factor II levels are elevated in LC patients heterozygous for PT G20210A and may favour PVT. 16493481

2006

Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.010 GeneticVariation BEFREE Plasma concentrations of factor II, VII, X, V, protein C (PC) total protein S (tPS) antithrombin (AT) and D-dimers (DD) were measured in 13 LC patients with PVT heterozygous for PT G20210A, in 13 LC patients with PVT without PT G20210A and in 13 LC controls matched by age, sex and Child-Pugh score. 16493481

2006

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.180 GeneticVariation BEFREE JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature. 17687555

2007