SNPMiner Trials by Shray Alag


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Report for Mutation G20210A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 51 clinical trials

Clinical Trials


1 Epidemiology of Venous Thromboembolism

To evaluate potentially modifiable lifestyle predictors of venous thromboembolism and their joint associations with biochemical and genetic determinants.

NCT00041457 Cardiovascular Diseases Thromboembolism Peripheral Vascular Diseases
MeSH: Thromboembolism Vascular Diseases Peripheral Vascular Diseases Peripheral Arterial Disease Cardiovascular Diseases
HPO: Abnormality of the cardiovascular system Peripheral arterial stenosis Thromboembolism

Archived blood samples were collected from approximately 75 percent of participants at baseline and will be used to assess biochemical and genetic markers of risk including factor V Leiden, the G20210A mutation in the prothrombin gene, hyperhomocysteinemia, and anticardiolipin antibodies. --- G20210A ---


2 Hormone Replacement Therapy and Prothrombotic Variants

To examine in postmenopausal women the potential interactions of hormone replacement therapy with other blood clotting factors on the risk of cardiovascular diseases such as heart attack or stroke.

NCT00049933 Cardiovascular Diseases Heart Diseases Cerebrovascular Accident Myocardial Infarction Hypertension
MeSH: Stroke Heart Diseases Myocardial Infarction Infarction Cardiovascular Diseases
HPO: Abnormality of the cardiovascular system Myocardial infarction Stroke

In an American Heart Association funded case-control study, a potential interaction was observed between HRT and the prothrombin G20210A variant on the risk of first myocardial infarction (MI) in post-menopausal women with hypertension. --- G20210A ---

Primary Outcomes

Measure: Myocardial Infarction or Stroke

Time: Retrospective

3 A Study to Assess the Incidence of Deep Vein Thrombosis (DVT) Following Prophylactic Intravenous Administration of Recombinant Human Antithrombin(rhAT) to Hereditary Antithrombin (AT) Deficient Patients in High Risk Situations.

Patients with hereditary antithrombin (AT) deficiency are at increased risk of venous thrombosis and pulmonary embolism, particularly during certain high risk procedures. The trial is focusing on patients with confirmed hereditary antithrombin deficiency who are undergoing a surgical procedure or induced/spontaneous labor and delivery. The study will test the safety and efficacy of recombinant human antithrombin (rhAT) by infusing rhAT prior to, during and following the period of risk or surgical procedure.

NCT00056550 Antithrombin Deficiency, Congenital Biological: Recombinant Human Antithrombin (rhAT)
MeSH: Thrombosis Venous Thrombosis Antithrombin III Deficiency
HPO: Deep venous thrombosis Reduced antithrombin III activity Venous thrombosis

Exclusion Criteria: - Patients who have a diagnosis of hereditary APC resistance, Factor V Leiden, Protein S or C deficiency, prothrombin gene mutation (G20210A), or acquired (lupus anticoagulant) thrombophilic disorder. --- G20210A ---

Primary Outcomes

Description: Observation for clinical signs and symptoms of thromboembolic events are evaluated for acute deep vein thrombosis (DVT) using duplex ultrasonography and/or other imaging tests to confirm clinical signs/symptoms. Duplex ultrasonography was performed at baseline, last day of dosing and day 7 (+ or -1 day).

Measure: Incidence of Thromboembolic Events Acute Deep Venous Thrombosis (DVT) and/or Thromboembolic Events Other Than Acute Deep Vein Thrombosis (DVT).

Time: Baseline, last day of dosing and day 7 (+ or - 1 day)

Secondary Outcomes

Description: The investigators evaluated patients for any clinical signs of thromboembolism by physical examination.

Measure: Local Assessment of Thromboembolism by Physical Examination.

Time: 30 days after last dose

4 A Phase I Study of Bevacizumab in Refractory Solid Tumors

This phase I trial is studying the side effects and best dose of bevacizumab in treating young patients with refractory solid tumors. Monoclonal antibodies, such as bevacizumab, can locate tumor cells and either kill them or deliver tumor-killing substances to them without harming normal cells.

NCT00085111 Unspecified Childhood Solid Tumor, Protocol Specific Biological: bevacizumab
MeSH: Neoplasms
HPO: Neoplasm

Inclusion Criteria: - Histologically confirmed solid tumor at original diagnosis - Measurable or evaluable* disease - No known curative therapy exists - No lymphomas or primary CNS tumors - No history or clinical evidence of CNS metastasis by head CT scan - Performance status - Karnofsky 50-100% (patients > 10 years of age) - Performance status - Lansky 50-100% (patients ≤ 10 years of age) - At least 8 weeks - Patients without bone marrow involvement: - Absolute neutrophil count ≥ 1,000/mm^3 - Platelet count ≥ 100,000/mm^3 (transfusion independent) - Hemoglobin ≥ 8.0 g/dL (RBC transfusion allowed) - Patients with bone marrow metastases: - Platelet count ≥ 75,000/mm^3 (transfusion independent) - Granulocytopenia, anemia, and/or mild thrombocytopenia allowed - No known bleeding diathesis or coagulopathy - No known thrombophilic condition (e.g., protein S, protein C, or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocystinemia, or antiphospholipid antibody syndrome) - PT or PTT ≤ 1.2 times upper limit of normal (ULN) - ALT ≤ 5 times ULN - Bilirubin ≤ 1.5 times ULN - Albumin ≥ 2 g/dL - Creatinine clearance or radioisotope glomerular filtrationrate ≥ 70 mL/min - Creatinine based on age as follows: - Creatinine ≤ 0.8 mg/dL (patients ≤ 5 years of age) - Creatinine ≤ 1.0 mg/dL (patients 6 to 10 years of age) - Creatinine ≤ 1.2 mg/dL (patients 11 to 15 years of age) - Creatinine ≤ 1.5 mg/dL (patients > 15 years of age) - No proteinuria - 24-hour urine protein ≤ 500 mg - No history of stroke - No deep venous or arterial thrombosis within the past 3 months - No uncontrolled hypertension - Hypertension must be well-controlled with stable doses of medication for at least 2 weeks - No history of myocardial infarction - No severe or unstable angina - No transient ischemic attack within the past 6 months - No cerebrovascular accident within the past 6 months - No other arterial thromboembolic event within the past 6 months - No clinically significant or severe peripheral vascular disease - No pulmonary embolism within the past 3 months - Not pregnant or nursing - Negative pregnancy test - Fertile patients must use effective contraception during and for at least 3 months after study participation - No chronic non-healing wound, ulcer, or bone fracture - No significant traumatic injury within the past 28 days - No uncontrolled seizures - No uncontrolled infection - No known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies - Recovered from prior immunotherapy - More than 1 week since prior growth factors - At least 2 months since prior stem cell transplantation - No evidence of active graft-vs-host disease - At least 8 weeks since prior monoclonal antibody therapy - At least 7 days since prior antineoplastic biologic agents - No prior bevacizumab - No concurrent prophylactic growth factors - No other concurrent immunotherapy or biologic therapy - More than 3 weeks since prior myelosuppressive chemotherapy (6 weeks for nitrosoureas) and recovered - No concurrent chemotherapy - Recovered from prior radiotherapy - At least 4 months since prior craniospinal radiotherapy - At least 4 months since prior radiotherapy to ≥ 50% of the pelvis - At least 6 weeks since other prior substantial bone marrow radiotherapy - At least 2 weeks since prior local palliative small-port radiotherapy - No concurrent radiotherapy - More than 28 days since prior major surgery - At least 7 days since prior minor surgery (for limited purposes of tissue retrieval) and recovered - At least 24 hours since prior placement of an indwelling IV catheter - At least 1 week since prior full-dose anticoagulation therapy, including systemic thrombolytic agents, heparin, low-molecular weight heparin, and warfarin - Local intralumenal anticoagulants (e.g., heparin or tissue plasminogen activator) allowed to maintain patency of preexisting, permanent, indwelling IV catheters or peripheral IV catheters for blood sampling - More than 1 week since prior antipyretic and anti-inflammatory medications (except acetaminophen) - No concurrent full-dose anticoagulation therapy - No concurrent anti-inflammatory medication - Concurrent acetaminophen allowed - No other concurrent cancer therapy - No other concurrent investigational agents Inclusion Criteria: - Histologically confirmed solid tumor at original diagnosis - Measurable or evaluable* disease - No known curative therapy exists - No lymphomas or primary CNS tumors - No history or clinical evidence of CNS metastasis by head CT scan - Performance status - Karnofsky 50-100% (patients > 10 years of age) - Performance status - Lansky 50-100% (patients ≤ 10 years of age) - At least 8 weeks - Patients without bone marrow involvement: - Absolute neutrophil count ≥ 1,000/mm^3 - Platelet count ≥ 100,000/mm^3 (transfusion independent) - Hemoglobin ≥ 8.0 g/dL (RBC transfusion allowed) - Patients with bone marrow metastases: - Platelet count ≥ 75,000/mm^3 (transfusion independent) - Granulocytopenia, anemia, and/or mild thrombocytopenia allowed - No known bleeding diathesis or coagulopathy - No known thrombophilic condition (e.g., protein S, protein C, or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocystinemia, or antiphospholipid antibody syndrome) - PT or PTT ≤ 1.2 times upper limit of normal (ULN) - ALT ≤ 5 times ULN - Bilirubin ≤ 1.5 times ULN - Albumin ≥ 2 g/dL - Creatinine clearance or radioisotope glomerular filtrationrate ≥ 70 mL/min - Creatinine based on age as follows: - Creatinine ≤ 0.8 mg/dL (patients ≤ 5 years of age) - Creatinine ≤ 1.0 mg/dL (patients 6 to 10 years of age) - Creatinine ≤ 1.2 mg/dL (patients 11 to 15 years of age) - Creatinine ≤ 1.5 mg/dL (patients > 15 years of age) - No proteinuria - 24-hour urine protein ≤ 500 mg - No history of stroke - No deep venous or arterial thrombosis within the past 3 months - No uncontrolled hypertension - Hypertension must be well-controlled with stable doses of medication for at least 2 weeks - No history of myocardial infarction - No severe or unstable angina - No transient ischemic attack within the past 6 months - No cerebrovascular accident within the past 6 months - No other arterial thromboembolic event within the past 6 months - No clinically significant or severe peripheral vascular disease - No pulmonary embolism within the past 3 months - Not pregnant or nursing - Negative pregnancy test - Fertile patients must use effective contraception during and for at least 3 months after study participation - No chronic non-healing wound, ulcer, or bone fracture - No significant traumatic injury within the past 28 days - No uncontrolled seizures - No uncontrolled infection - No known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies - Recovered from prior immunotherapy - More than 1 week since prior growth factors - At least 2 months since prior stem cell transplantation - No evidence of active graft-vs-host disease - At least 8 weeks since prior monoclonal antibody therapy - At least 7 days since prior antineoplastic biologic agents - No prior bevacizumab - No concurrent prophylactic growth factors - No other concurrent immunotherapy or biologic therapy - More than 3 weeks since prior myelosuppressive chemotherapy (6 weeks for nitrosoureas) and recovered - No concurrent chemotherapy - Recovered from prior radiotherapy - At least 4 months since prior craniospinal radiotherapy - At least 4 months since prior radiotherapy to ≥ 50% of the pelvis - At least 6 weeks since other prior substantial bone marrow radiotherapy - At least 2 weeks since prior local palliative small-port radiotherapy - No concurrent radiotherapy - More than 28 days since prior major surgery - At least 7 days since prior minor surgery (for limited purposes of tissue retrieval) and recovered - At least 24 hours since prior placement of an indwelling IV catheter - At least 1 week since prior full-dose anticoagulation therapy, including systemic thrombolytic agents, heparin, low-molecular weight heparin, and warfarin - Local intralumenal anticoagulants (e.g., heparin or tissue plasminogen activator) allowed to maintain patency of preexisting, permanent, indwelling IV catheters or peripheral IV catheters for blood sampling - More than 1 week since prior antipyretic and anti-inflammatory medications (except acetaminophen) - No concurrent full-dose anticoagulation therapy - No concurrent anti-inflammatory medication - Concurrent acetaminophen allowed - No other concurrent cancer therapy - No other concurrent investigational agents Unspecified Childhood Solid Tumor, Protocol Specific Neoplasms PRIMARY OBJECTIVES: I. To estimate the maximum tolerable dose (MTD) of bevacizumab by dose escalation to a maximum of 15mg/kg, even if MTD is not reached, administered as an intravenous infusion, every 2 weeks to children with refractory solid tumors. --- G20210A ---

Inclusion Criteria: - Histologically confirmed solid tumor at original diagnosis - Measurable or evaluable* disease - No known curative therapy exists - No lymphomas or primary CNS tumors - No history or clinical evidence of CNS metastasis by head CT scan - Performance status - Karnofsky 50-100% (patients > 10 years of age) - Performance status - Lansky 50-100% (patients ≤ 10 years of age) - At least 8 weeks - Patients without bone marrow involvement: - Absolute neutrophil count ≥ 1,000/mm^3 - Platelet count ≥ 100,000/mm^3 (transfusion independent) - Hemoglobin ≥ 8.0 g/dL (RBC transfusion allowed) - Patients with bone marrow metastases: - Platelet count ≥ 75,000/mm^3 (transfusion independent) - Granulocytopenia, anemia, and/or mild thrombocytopenia allowed - No known bleeding diathesis or coagulopathy - No known thrombophilic condition (e.g., protein S, protein C, or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocystinemia, or antiphospholipid antibody syndrome) - PT or PTT ≤ 1.2 times upper limit of normal (ULN) - ALT ≤ 5 times ULN - Bilirubin ≤ 1.5 times ULN - Albumin ≥ 2 g/dL - Creatinine clearance or radioisotope glomerular filtrationrate ≥ 70 mL/min - Creatinine based on age as follows: - Creatinine ≤ 0.8 mg/dL (patients ≤ 5 years of age) - Creatinine ≤ 1.0 mg/dL (patients 6 to 10 years of age) - Creatinine ≤ 1.2 mg/dL (patients 11 to 15 years of age) - Creatinine ≤ 1.5 mg/dL (patients > 15 years of age) - No proteinuria - 24-hour urine protein ≤ 500 mg - No history of stroke - No deep venous or arterial thrombosis within the past 3 months - No uncontrolled hypertension - Hypertension must be well-controlled with stable doses of medication for at least 2 weeks - No history of myocardial infarction - No severe or unstable angina - No transient ischemic attack within the past 6 months - No cerebrovascular accident within the past 6 months - No other arterial thromboembolic event within the past 6 months - No clinically significant or severe peripheral vascular disease - No pulmonary embolism within the past 3 months - Not pregnant or nursing - Negative pregnancy test - Fertile patients must use effective contraception during and for at least 3 months after study participation - No chronic non-healing wound, ulcer, or bone fracture - No significant traumatic injury within the past 28 days - No uncontrolled seizures - No uncontrolled infection - No known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies - Recovered from prior immunotherapy - More than 1 week since prior growth factors - At least 2 months since prior stem cell transplantation - No evidence of active graft-vs-host disease - At least 8 weeks since prior monoclonal antibody therapy - At least 7 days since prior antineoplastic biologic agents - No prior bevacizumab - No concurrent prophylactic growth factors - No other concurrent immunotherapy or biologic therapy - More than 3 weeks since prior myelosuppressive chemotherapy (6 weeks for nitrosoureas) and recovered - No concurrent chemotherapy - Recovered from prior radiotherapy - At least 4 months since prior craniospinal radiotherapy - At least 4 months since prior radiotherapy to ≥ 50% of the pelvis - At least 6 weeks since other prior substantial bone marrow radiotherapy - At least 2 weeks since prior local palliative small-port radiotherapy - No concurrent radiotherapy - More than 28 days since prior major surgery - At least 7 days since prior minor surgery (for limited purposes of tissue retrieval) and recovered - At least 24 hours since prior placement of an indwelling IV catheter - At least 1 week since prior full-dose anticoagulation therapy, including systemic thrombolytic agents, heparin, low-molecular weight heparin, and warfarin - Local intralumenal anticoagulants (e.g., heparin or tissue plasminogen activator) allowed to maintain patency of preexisting, permanent, indwelling IV catheters or peripheral IV catheters for blood sampling - More than 1 week since prior antipyretic and anti-inflammatory medications (except acetaminophen) - No concurrent full-dose anticoagulation therapy - No concurrent anti-inflammatory medication - Concurrent acetaminophen allowed - No other concurrent cancer therapy - No other concurrent investigational agents Inclusion Criteria: - Histologically confirmed solid tumor at original diagnosis - Measurable or evaluable* disease - No known curative therapy exists - No lymphomas or primary CNS tumors - No history or clinical evidence of CNS metastasis by head CT scan - Performance status - Karnofsky 50-100% (patients > 10 years of age) - Performance status - Lansky 50-100% (patients ≤ 10 years of age) - At least 8 weeks - Patients without bone marrow involvement: - Absolute neutrophil count ≥ 1,000/mm^3 - Platelet count ≥ 100,000/mm^3 (transfusion independent) - Hemoglobin ≥ 8.0 g/dL (RBC transfusion allowed) - Patients with bone marrow metastases: - Platelet count ≥ 75,000/mm^3 (transfusion independent) - Granulocytopenia, anemia, and/or mild thrombocytopenia allowed - No known bleeding diathesis or coagulopathy - No known thrombophilic condition (e.g., protein S, protein C, or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocystinemia, or antiphospholipid antibody syndrome) - PT or PTT ≤ 1.2 times upper limit of normal (ULN) - ALT ≤ 5 times ULN - Bilirubin ≤ 1.5 times ULN - Albumin ≥ 2 g/dL - Creatinine clearance or radioisotope glomerular filtrationrate ≥ 70 mL/min - Creatinine based on age as follows: - Creatinine ≤ 0.8 mg/dL (patients ≤ 5 years of age) - Creatinine ≤ 1.0 mg/dL (patients 6 to 10 years of age) - Creatinine ≤ 1.2 mg/dL (patients 11 to 15 years of age) - Creatinine ≤ 1.5 mg/dL (patients > 15 years of age) - No proteinuria - 24-hour urine protein ≤ 500 mg - No history of stroke - No deep venous or arterial thrombosis within the past 3 months - No uncontrolled hypertension - Hypertension must be well-controlled with stable doses of medication for at least 2 weeks - No history of myocardial infarction - No severe or unstable angina - No transient ischemic attack within the past 6 months - No cerebrovascular accident within the past 6 months - No other arterial thromboembolic event within the past 6 months - No clinically significant or severe peripheral vascular disease - No pulmonary embolism within the past 3 months - Not pregnant or nursing - Negative pregnancy test - Fertile patients must use effective contraception during and for at least 3 months after study participation - No chronic non-healing wound, ulcer, or bone fracture - No significant traumatic injury within the past 28 days - No uncontrolled seizures - No uncontrolled infection - No known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies - Recovered from prior immunotherapy - More than 1 week since prior growth factors - At least 2 months since prior stem cell transplantation - No evidence of active graft-vs-host disease - At least 8 weeks since prior monoclonal antibody therapy - At least 7 days since prior antineoplastic biologic agents - No prior bevacizumab - No concurrent prophylactic growth factors - No other concurrent immunotherapy or biologic therapy - More than 3 weeks since prior myelosuppressive chemotherapy (6 weeks for nitrosoureas) and recovered - No concurrent chemotherapy - Recovered from prior radiotherapy - At least 4 months since prior craniospinal radiotherapy - At least 4 months since prior radiotherapy to ≥ 50% of the pelvis - At least 6 weeks since other prior substantial bone marrow radiotherapy - At least 2 weeks since prior local palliative small-port radiotherapy - No concurrent radiotherapy - More than 28 days since prior major surgery - At least 7 days since prior minor surgery (for limited purposes of tissue retrieval) and recovered - At least 24 hours since prior placement of an indwelling IV catheter - At least 1 week since prior full-dose anticoagulation therapy, including systemic thrombolytic agents, heparin, low-molecular weight heparin, and warfarin - Local intralumenal anticoagulants (e.g., heparin or tissue plasminogen activator) allowed to maintain patency of preexisting, permanent, indwelling IV catheters or peripheral IV catheters for blood sampling - More than 1 week since prior antipyretic and anti-inflammatory medications (except acetaminophen) - No concurrent full-dose anticoagulation therapy - No concurrent anti-inflammatory medication - Concurrent acetaminophen allowed - No other concurrent cancer therapy - No other concurrent investigational agents Unspecified Childhood Solid Tumor, Protocol Specific Neoplasms PRIMARY OBJECTIVES: I. To estimate the maximum tolerable dose (MTD) of bevacizumab by dose escalation to a maximum of 15mg/kg, even if MTD is not reached, administered as an intravenous infusion, every 2 weeks to children with refractory solid tumors. --- G20210A --- --- G20210A ---

Primary Outcomes

Measure: Maximum tolerated dose defined based on the dose-limiting toxicities graded according to Common Terminology Criteria for Adverse Events v3.0

Time: 28 days

5 A Multicenter, Multinational Study to Assess the Safety and Efficacy of Antithrombin Alfa in Hereditary Antithrombin (AT) Deficient Patients in High-Risk Situations for Thrombosis

Patients with hereditary antithrombin deficiency are at increased risk of venous thrombosis and pulmonary embolism, particularly during certain high risk procedures. The trial focused on patients with confirmed hereditary antithrombin deficiency who were undergoing a surgical procedure or induced/spontaneous labor and delivery, and/or caesarean section. The study assessed the incidence of thromboembolic events following prophylactic intravenous administration of recombinant human antithrombin (rhAT) to patients with hereditary antithrombin (AT) deficiency in situations usually associated with a high risk for thromboembolic events.

NCT00110513 Antithrombin III Deficiency Biological: Recombinant human antithrombin (rhAT)
MeSH: Antithrombin III Deficiency
HPO: Reduced antithrombin III activity

activated protein C(APC) resistance/Factor V Leiden, Protein S or C deficiency, prothrombin gene mutation (G20210A), or acquired (lupus anticoagulant) thrombophilic disorder). --- G20210A ---

In September 2006, GTC Biotherapeutics modified exclusion criteria 1 (below) to allow for the participation of previously excluded patients with the hereditary thrombophilic disorders Factor V Leiden and prothrombin gene mutation (G20210A). --- G20210A ---

Primary Outcomes

Description: To assess the incidence of thromboembolic events acute deep venous thrombosis (DVT) and/or thromboembolic events other than acute deep venous thrombosis (DVT) by clinical signs and symptoms of venous thromboembolism (VTE), confirmed by diagnostic assessments.

Measure: Incidence of Thromboembolic Events Acute Deep Venous Thrombosis (DVT) and/or Thromboembolic Events Other Than Acute Deep Venous Thrombosis (DVT)

Time: During treatment and follow up period of 7 days

6 Low Molecular Weight Heparin Vs No Treatment in Pregnant Women With Previous Preeclampsia or Fetal Growth Restriction Who Were Heterozygote for Factor V Leiden or Prothrombin Gene G20210A Mutation

The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both.

NCT00260520 Preeclampsia Drug: Dalteparin
MeSH: Pre-Eclampsia Fetal Growth Retardation
HPO: Intrauterine growth retardation Preeclampsia Toxemia of pregnancy

Low Molecular Weight Heparin Vs No Treatment in Pregnant Women With Previous Preeclampsia or Fetal Growth Restriction Who Were Heterozygote for Factor V Leiden or Prothrombin Gene G20210A Mutation. --- G20210A ---

LMWH to Prevent Preeclampsia and Fetal Growth Restriction The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both. --- G20210A ---

Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Preeclampsia Pre-Eclampsia Fetal Growth Retardation The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both. --- G20210A ---

Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Preeclampsia Pre-Eclampsia Fetal Growth Retardation The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both. --- G20210A --- --- G20210A ---

Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Preeclampsia Pre-Eclampsia Fetal Growth Retardation The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both. --- G20210A --- --- G20210A --- --- G20210A ---

Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Preeclampsia Pre-Eclampsia Fetal Growth Retardation The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both. --- G20210A --- --- G20210A --- --- G20210A --- --- G20210A ---

Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Preeclampsia Pre-Eclampsia Fetal Growth Retardation The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both. --- G20210A --- --- G20210A --- --- G20210A --- --- G20210A --- --- G20210A ---


7 Use of Whole Blood and Cell-rich Coagulation Assays for the Detection of Non-Overt DIC in Sepsis

Sepsis is the 13th most common cause of death in the United States, causing approximately 210,000 deaths per year. Once DIC has developed, irreversible organ injury has already occurred and the mortality rate is 70%. Inhibition of systemic coagulation with activated protein C concentrate has been the only therapy for sepsis introduced in the past several decades which has improved outcomes. Elucidation of the coagulopathic mechanisms early in the development of DIC may give rise to targeted therapies and strategies for early intervention. We hypothesize that an increase in endogenous thrombin potential precedes the development of overt DIC by a clinically significant time period. Our primary objective is to determine if endogenous thrombin potential (ETP) measured at first diagnosis of sepsis prior to the onset of DIC and organ failure is predictive of overt DIC and/or poor outcome. We will compare ETP to standard coagulation assays and the clinical assessment of DIC using the ISTH criteria for overt DIC. A secondary objective of this study is to determine if host coagulation variables predispose to the development of DIC and poor clinical outcome during sepsis.

NCT00299949 Sepsis Disseminated Intravascular Coagulation
MeSH: Sepsis Disseminated Intravascular Coagulation
HPO: Disseminated intravascular coagulation Sepsis

Cbc, PT/PTT, Fibrinogen, d-dimer, Protein C activity, Protein S activity, ATIII activity, Factor V Leiden mutation, Prothrombin G20210A mutation analysis will be performed in Memorial Herman Hospital clinical laboratories. --- G20210A ---

The secondary objective will be to compare host coagulation variables, including ETP, roTEG, Pro C, Pro S, ATIII, FVL, and prothrombin G20210A mutation at presentation, with the secondary outcome measures of 28-day mortality and organ dysfunction. --- G20210A ---

Primary Outcomes

Description: ETP will be used to predict 28 day mortality

Measure: Mortality

Time: 28 days

8 Phase III Study Analyzing the Effectiveness of Dalteparin Therapy as Intervention in Recurrent Pregnancy Loss

With this clinical trial the investigators will analyze whether the rate of pregnancy losses before the 24th week of gestation can be reduced by dalteparin treatment in habitual aborters.

NCT00400387 Abortion, Habitual Drug: Fragmin P Forte (dalteparin sodium) Dietary Supplement: Multivitamin supplement
MeSH: Abortion, Habitual

Likewise, other thrombophilic risk factors including factor II G20210A, hyperhomocysteinemia, protein C, protein S and antithrombin deficiencies have also been associated with RPL (Sanson 1996; Brenner 1999). --- G20210A ---

Primary Outcomes

Measure: ongoing intact pregnancy at 24 weeks of gestation

Time: at 24 weeks of gestation

Secondary Outcomes

Measure: late pregnancy complication, defined as at least one of the following: preterm delivery, placenta insufficiency, intrauterine growth retardation, preeclampsia and abruptio placentae

Time: 6-8 weeks after delivery

Measure: foetus with structural anomalies

Time: 6-8 weeks after delivery

Measure: side effects of dalteparin therapy (e.g. thrombocytopenia, osteoporosis, haemorrhage)

Time: 6-8 weeks after delivery

Measure: life birth

Time: 6-8 weeks after delivery

Measure: preterm delivery (< 37 weeks of gestation)

Time: 6-8 weeks after delivery

9 The Negative Predictive Value of D-dimer on the Risk of Recurrent Venous Thromboembolism in Patients With Multiple Previous Events: a Prospective Cohort Study

Optimal duration of oral anticoagulant therapy in patients with recurrent episodes of venous thromboembolism (VTE) is a matter of debate and recommendations are based on inadequate evidence. More than 12 months of treatment are currently recommended, and the grade of recommendation is low. The PROLONG study has recently evaluated the predictive role of D-dimer measurement after withholding oral anticoagulant treatment in patients with a first episode of VTE. Patients with a positive D-dimer had a significantly higher incidence of VTE recurrences than patients with a negative D-dimer and required resumption of the antithrombotic treatment. Based on the results of this and of previous cohort studies, it appears safe to withhold treatment in patients with negative D-dimer values and to continue treatment in patients with altered D-dimer levels. Aim of this study is therefore to assess the negative predictive value of D-dimer also in patients with recurrent VTE and to evaluate the clinical utility of this approach in this patient setting.

NCT00428441 Venous Thromboembolism Drug: Warfarin
MeSH: Thromboembolism Venous Thromboembolism
HPO: Thromboembolism

Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Venous Thromboembolism Thromboembolism Venous Thromboembolism null --- G20210A ---

Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Venous Thromboembolism Thromboembolism Venous Thromboembolism null --- G20210A --- --- G20210A ---

Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Venous Thromboembolism Thromboembolism Venous Thromboembolism null --- G20210A --- --- G20210A --- --- G20210A ---

Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Venous Thromboembolism Thromboembolism Venous Thromboembolism null --- G20210A --- --- G20210A --- --- G20210A --- --- G20210A ---

Primary Outcomes

Description: Objectively documented deep vein thrombosis, pulmonary embolism, superficial vein thrombosis

Measure: Recurrent Deep Vein Thrombosis or Pulmonary Embolism in Patients With Persistently Negative D-dimer Levels

Time: 1 year

Measure: Rate of Patients With Altered D-dimer Levels and Temporal Distribution of Alterations

Time: 3 months

Secondary Outcomes

Measure: Recurrent Deep Vein Thrombosis or Pulmonary Embolism in Patients Who Resumed Oral Anticoagulant Therapy

Time: 3 months

Measure: Incidence of Major Bleeding in Patients Who Resumed Oral Anticoagulant Therapy

Time: 3 months

Measure: Mortality

Time: 3 months

10 Chemotherapy With or Without Preventive Anticoagulation for Metastatic Cancer of the Pancreas

RATIONALE: Drugs used in chemotherapy, such as gemcitabine and capecitabine, work in different ways to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing. Anticoagulants, such as dalteparin, may help prevent blood clots from forming in patients being treated with chemotherapy. It is not yet known whether gemcitabine is more effective when given alone or together with dalteparin and/or capecitabine in treating patients with pancreatic cancer. PURPOSE: This randomized phase III trial is studying whether dalteparin prevents blood clots in patients with pancreatic cancer receiving treatment with different combinations of gemcitabine and capecitabine.

NCT00662688 Chemotherapeutic Agent Toxicity Pancreatic Cancer Thromboembolism Drug: daltéparine Drug: Chemotherapy at the investigator's discretion
MeSH: Pancreatic Neoplasms Thromboembolism
HPO: Neoplasm of the pancreas Thromboembolism

Blood is examined for biomarkers, resistance to activated protein C, and mutations (Leiden V factor, mutation G20210A, and the factor II gene). --- G20210A ---

Primary Outcomes

Description: number of thromboembolic events during anticoagulation treatment

Measure: Thromboembolic events

Time: during study treatment

Secondary Outcomes

Measure: Progression-free survival

Time: at 6 months

Measure: Overall survival

Time: at one year

Measure: Tolerance of regimens

Time: each cycle

11 Essai thérapeutique randomisé Multicentrique en Double Insu, Comparant l'énoxaparine 40mg Versus Placebo, en Une Injection Sous-cutanée Quotidienne, Dans Les Fausses Couches spontanées récurrentes inexpliquées

Standard investigations fail to reveal any apparent cause in 50% of the cases of recurrent spontaneous abortion. Prothrombotic mechanisms were initially evoked. Factor V Leiden, Prothrombin G20210A mutation and protein S deficiency are implicated in the meta-analysis of Rey (Lancet).However, they do not account for a large number of miscarriages.Gris JC and coworkers (Blood 2004)carried out an open trial, low-molecular-weight heparin versus low-dose aspirin, in women with one fetal loss and with a constitutional thrombophilic disorder. They conclude for a benefit action of Low-molecular-weight heparin. There is actually no trials concerning women with unexplained recurrent abortions and without known thrombophilia. Nevertheless,aspirin or enoxaparin are often prescribed. It is time to assess these practices. We therefore initiate a multisite, double blind randomized study, enoxaparine versus placebo, in women without known thrombophilia, which experienced unexplained recurrent abortions.

NCT00740545 Alive and Viable Births Drug: enoxaparine 40 mg daily Drug: placebo

Factor V Leiden, Prothrombin G20210A mutation and protein S deficiency are implicated in the meta-analysis of Rey (Lancet).However, they do not account for a large number of miscarriages.Gris JC and coworkers (Blood 2004)carried out an open trial, low-molecular-weight heparin versus low-dose aspirin, in women with one fetal loss and with a constitutional thrombophilic disorder. --- G20210A ---

Inclusion Criteria: - Women between 18 and 45 years - 2 or more consecutive spontaneous abortions before the 15th week of pregnancy - Unexplained abortions - No maternal or paternal characterized chromosomal aberration - No Anti-phospholipid Syndrome - No anatomical abnormality possibly responsible for abortion - No Factor V Leiden - No Prothrombin G20210A mutation - No protein S deficiency - No protein C deficiency - No Anti thrombin 3 deficiency - Proved pregnancy Exclusion Criteria: - Contraindications of enoxaparine 4000 U per day - Women with risk of venous thromboembolism during pregnancy - No regular anticoagulation or antiplatelet treatment - Blood Hemoglobin level below 10g/dl - Blood platelet level below 150 000/mm3 - Creatinine clearance below 30ml/mn - Anomaly of the coagulation tests - No informed consent Inclusion Criteria: - Women between 18 and 45 years - 2 or more consecutive spontaneous abortions before the 15th week of pregnancy - Unexplained abortions - No maternal or paternal characterized chromosomal aberration - No Anti-phospholipid Syndrome - No anatomical abnormality possibly responsible for abortion - No Factor V Leiden - No Prothrombin G20210A mutation - No protein S deficiency - No protein C deficiency - No Anti thrombin 3 deficiency - Proved pregnancy Exclusion Criteria: - Contraindications of enoxaparine 4000 U per day - Women with risk of venous thromboembolism during pregnancy - No regular anticoagulation or antiplatelet treatment - Blood Hemoglobin level below 10g/dl - Blood platelet level below 150 000/mm3 - Creatinine clearance below 30ml/mn - Anomaly of the coagulation tests - No informed consent Alive and Viable Births null --- G20210A ---

Inclusion Criteria: - Women between 18 and 45 years - 2 or more consecutive spontaneous abortions before the 15th week of pregnancy - Unexplained abortions - No maternal or paternal characterized chromosomal aberration - No Anti-phospholipid Syndrome - No anatomical abnormality possibly responsible for abortion - No Factor V Leiden - No Prothrombin G20210A mutation - No protein S deficiency - No protein C deficiency - No Anti thrombin 3 deficiency - Proved pregnancy Exclusion Criteria: - Contraindications of enoxaparine 4000 U per day - Women with risk of venous thromboembolism during pregnancy - No regular anticoagulation or antiplatelet treatment - Blood Hemoglobin level below 10g/dl - Blood platelet level below 150 000/mm3 - Creatinine clearance below 30ml/mn - Anomaly of the coagulation tests - No informed consent Inclusion Criteria: - Women between 18 and 45 years - 2 or more consecutive spontaneous abortions before the 15th week of pregnancy - Unexplained abortions - No maternal or paternal characterized chromosomal aberration - No Anti-phospholipid Syndrome - No anatomical abnormality possibly responsible for abortion - No Factor V Leiden - No Prothrombin G20210A mutation - No protein S deficiency - No protein C deficiency - No Anti thrombin 3 deficiency - Proved pregnancy Exclusion Criteria: - Contraindications of enoxaparine 4000 U per day - Women with risk of venous thromboembolism during pregnancy - No regular anticoagulation or antiplatelet treatment - Blood Hemoglobin level below 10g/dl - Blood platelet level below 150 000/mm3 - Creatinine clearance below 30ml/mn - Anomaly of the coagulation tests - No informed consent Alive and Viable Births null --- G20210A --- --- G20210A ---

Primary Outcomes

Measure: Alive and Viable Births

Time: number of born child healthy

12 Prophylactic Enoxaparin Dosing for Prevention of Venous Thromboembolism in Pregnancy.

Enoxaparin is a type of low molecular weight heparin (LMWH), or anticoagulant, used to prevent and treat blood clots. Formation of blood clots, or venous thromboemboli (VTE) in pregnancy can have dangerous and even life-threatening effects on the mother and fetus. Enoxaparin is the preferred medicine to prevent clotting in pregnant patients who are at risk for VTE, because it has been studied to be safe and effective in pregnancy without any harms to the fetus. Although this medication is routinely used and is recommended by several prominent medical groups, the optimal dosing for prevention of VTE is still unclear. The range of standardly prescribed dosing regimens of Enoxaparin includes 40mg daily and 1mg/kg daily, but these two dosing strategies have never been compared in a head to head fashion.

NCT00878826 Venous Thrombosis Drug: Enoxaparin
MeSH: Thrombosis Thromboembolism Venous Thromboembolism Venous Thrombosis
HPO: Deep venous thrombosis Thromboembolism Venous thrombosis

Inclusion Criteria: 1. >18 years of age 2. Warrants prophylaxis against venous thromboembolism in pregnancy according to American College of Obstetrics and Gynecology Practice Bulletin 2000, reaffirmed in 2008: - history of idiopathic thrombosis - history of thrombosis related to pregnancy or oral contraceptive use - history of thrombosis accompanied by an underlying thrombophilia other than homozygous for the factor V Leiden mutation, heterozygous for both the factor V Leiden and the prothrombin G20210A mutation, or AT-III deficiency - without a history of thrombosis but who have an underlying thrombophilia and a strong family history of thrombosis - Known thrombophilia except for those listed above, with a history of adverse pregnancy outcome (APO) as defined by: ¡Ý3 pregnancy losses in the 1st trimester, ¡Ý2 pregnancy losses/stillbirth in 2nd trimester, ¡Ý1 pregnancy loss/intrauterine fetal demise (IUFD) in the 3rd trimester, intrauterine growth restriction (IUGR), abruptio placentae, or severe pre-Eclampsia prior to 34 weeks gestation. --- G20210A ---

Exclusion Criteria: 1. Need for therapeutic-level anticoagulation as determined by physician 2. Renal disease as defined by serum creatinine >1.0 3. Weight >90kg 4. Allergy to enoxaparin Inclusion Criteria: 1. >18 years of age 2. Warrants prophylaxis against venous thromboembolism in pregnancy according to American College of Obstetrics and Gynecology Practice Bulletin 2000, reaffirmed in 2008: - history of idiopathic thrombosis - history of thrombosis related to pregnancy or oral contraceptive use - history of thrombosis accompanied by an underlying thrombophilia other than homozygous for the factor V Leiden mutation, heterozygous for both the factor V Leiden and the prothrombin G20210A mutation, or AT-III deficiency - without a history of thrombosis but who have an underlying thrombophilia and a strong family history of thrombosis - Known thrombophilia except for those listed above, with a history of adverse pregnancy outcome (APO) as defined by: ¡Ý3 pregnancy losses in the 1st trimester, ¡Ý2 pregnancy losses/stillbirth in 2nd trimester, ¡Ý1 pregnancy loss/intrauterine fetal demise (IUFD) in the 3rd trimester, intrauterine growth restriction (IUGR), abruptio placentae, or severe pre-Eclampsia prior to 34 weeks gestation. --- G20210A ---

Primary Outcomes

Description: Goal peak anti-Xa level is 0.2 to 0.4 u/ml. We compared peak drug levels between different dosing arms.

Measure: Peak Anti-Xa Level

Time: One measurement per trimester of pregnancy, up to 36 weeks

Secondary Outcomes

Measure: Thromboembolic Events

Time: Enrollment through 6 weeks postpartum

Measure: Bleeding Events

Time: Enrollment through 6 weeks postpartum

Measure: Side Effect - Bruising

Time: Enrollment through 6 weeks postpartum

13 Omega-3 Supplementation Decreases Inflammation and Fetal Obesity in Pregnancy

Randomized, double-blind placebo controlled trial of fish oil to decrease inflammation in pregnancy.

NCT00957476 Inflammation Obesity Pregnancy Fetal Growth Dietary Supplement: Omega-3 Fish Oil
MeSH: Obesity Inflammation
HPO: Obesity

- Moderate or high titer IgG anticardiolipin antibodies or prolonged activated PTT or other indication of presence of lupus anticoagulant, homozygous for prothrombin gene (G20210A) mutation, antithrombin III deficiency. --- G20210A ---

Primary Outcomes

Description: cytokine concentration in plasma, placenta and white adipose tissue

Measure: Decreased inflammation during human pregnancy

Time: enrollment (8-16 weeks) to delivery

Secondary Outcomes

Description: insulin sensitivity as estimated by OGTT

Measure: Reduction of insulin resistance

Time: enrollment (8-16 weeks) to delivery

14 VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System

As an external validation test of the performance of the VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System, clinical trials will be conducted at three sites. This study will assess genotyping accuracy as compared to bidirectional sequencing and genotyping reproducibility across variables such as user, day, and site.

NCT00959504 Detection and Genotyping of Factor V and Factor II P Detection and Genotyping of Factor V and Factor II Point Mutations

Detection of Factor V Leiden G1691A and Factor II (Prothrombin) G20210A Point Mutations in DNA As an external validation test of the performance of the VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System, clinical trials will be conducted at three sites. --- G1691A --- --- G20210A ---


15 Correlation of Genetic Polymorphism and Livedo Vasculitis

Livedo vasculitis is disease with recurrent courses of painful foot or ankle ulcerations, followed by healed white scars. The actual mechanism of its pathophysiology is not yet clear. It has been reported to be associated with some gene mutations, for example, factor V Leiden gene. This study is aimed to find the possible relation of these gene mutations in Taiwanese patients.

NCT00975871 Livedo Vasculitis Livedoid Vasculitis Livedoid Vasculopathy Genetic Pleomorphism Leiden Mutation
MeSH: Vasculitis
HPO: Vasculitis

It has been reported to be related to factor V Leiden mutation (heterozygous) (22.2%), prothrombin G20210A gene mutation (8.3%), PAI promotor 4G/4G genotype and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in about total 30% livedo vasculitis patients. --- G20210A ---


16 Low Molecular Weight Heparin, Enoxaparin, to Prevent Adverse Maternal and Perinatal Outcomes in Women With Previous Severe Preeclampsia at Less Than 34 Weeks' Gestation. A Prospective Randomized Trial

Preeclampsia (PE) complicates 2-8% of pregnancies. It is associated with an increased risk of adverse maternal (death, eclampsia, abruptio placenta, HELLP syndrome) and perinatal (perinatal death, growth restriction, prematurity) outcomes. The only definite treatment of PE remains pregnancy termination. Therefore, prevention of PE remains an important challenge. Low dose aspirin may be used in the prevention of PE, particularly in women who had a severe preeclampsia before 34 weeks. Its efficiency, however, is very weak. Recently, it has been suggested that low molecular weight heparin might be useful in the prevention of PE. The aim of this study is to analyze the usefulness of the enoxaparin 4000 UI/day in the prevention of a composite maternal or perinatal morbidity (occurrence of one of the following events: maternal death, PE, fetal growth retardation, abruptio placenta, perinatal death) in women who previously had a severe preeclampsia at less than 34 weeks' gestation. To answer this question, the investigators propose to conduct a multicenter prospective randomized trial that will compare two groups in parallel: a group where women will have an association of enoxaparin 4000 U/day and aspirin 100 mg/day and another group where women would have only aspirin 100 mg/day. The number of patients needed is 255 (amendment n°2-approved 06/12/2011) .

NCT00986765 Preeclampsia Drug: Lovenox® (enoxaparin) Drug: Aspegic ® (Aspirin)
MeSH: Pre-Eclampsia
HPO: Preeclampsia Toxemia of pregnancy

Recurrence of preeclampsia controlled for thrombophilia analysis (polymorphism of factor V Leiden, prothrombin G20210A gene polymorphism). --- G20210A ---

Primary Outcomes

Measure: The primary outcome is a composite morbidity that may occur : maternal death, or perinatal death, or preeclampsia, or abruptio placenta, or fetal growth restriction.

Time: from randomization until one month after the delivery

Secondary Outcomes

Measure: Recurrence of preeclampsia alone

Time: from randomization until one month after the delivery

Measure: Recurrence of severe preeclampsia

Time: from randomization until one month after the delivery

Measure: Fetal growth restriction alone

Time: from randomization until one month after the delivery

Measure: Severe fetal growth restriction (< 5th percentile)

Time: from randomization until one month after the delivery

Measure: Perinatal death alone

Time: from randomization until one month after the delivery

Measure: Neonatal death

Time: from randomization until one month after the delivery

Measure: Abruption alone

Time: from randomization until one month after the delivery

Measure: Maternal death

Time: from randomization until one month after the delivery

Measure: Fetal loss (10-21 weeks)

Time: from randomization until one month after the delivery

Measure: Fetal death

Time: from 15 weeks to delivery

Measure: Recurrence of preeclampsia controlled for thrombophilia analysis (polymorphism of factor V Leiden, prothrombin G20210A gene polymorphism)

Time: from randomization until one month after the delivery

Measure: Recurrence of preeclampsia controlled for angiogenic factors (free VEGF and PlGF, sFlt1, sEng)

Time: from randomization until one month after the delivery

Measure: Neonatal morbidity (NICU transfer, length of hospitalization, mechanical ventilation > 24 hours, respiratory distress syndrome, necrotizing enterocolitis, periventricular leucomalacia, bronchopulmonary dysplasia, intraventricular hemorrhage grade III-IV)

Time: from randomization until one month after the delivery

Measure: Enoxaparin toxicity: hemorrhage, skin reaction, thrombocytopenia (<100000/µL) related to heparin

Time: from randomization until one month after the delivery

Measure: Bone fracture

Time: from randomization until one month after the delivery

17 Low Molecular Weight Heparin for Pregnant Women With Thrombophilia: a Prospective, Randomized, Open Trial

The purpose of this study is to investigate whether heparin is an effective treatment in pregnant women at risk for thrombosis and other pregnancy-associated complications.

NCT01019655 Pregnancy and Thrombophilia Drug: Nadroparin calcium
MeSH: Thrombophilia
HPO: Hypercoagulability

Inclusion Criteria: - Pregnant women with a singleton pregnancy - Age >18 years - Ability to understand informed consent form Exclusion Criteria: - Allergy/hypersensitivity for nadroparin calcium - Heparin-associated thrombocytopenia - Organ lesions at risk for bleeding such as acute stomach/bowel ulcers, cerebral hemorrhage, cerebral aneurysm - uncontrolled hypertension - Liver and/or renal dysfunction - Known hematologic disease Inclusion Criteria: - Pregnant women with a singleton pregnancy - Age >18 years - Ability to understand informed consent form Exclusion Criteria: - Allergy/hypersensitivity for nadroparin calcium - Heparin-associated thrombocytopenia - Organ lesions at risk for bleeding such as acute stomach/bowel ulcers, cerebral hemorrhage, cerebral aneurysm - uncontrolled hypertension - Liver and/or renal dysfunction - Known hematologic disease Pregnancy and Thrombophilia Thrombophilia Women with thrombophilia, i.e. carriage of a factor V leiden mutation, a factor II prothrombin G20210A mutation or a reduced amount of antithrombin III, protein C or protein S, are at elevated risk for thrombosis and related sequelae. --- G20210A ---

Primary Outcomes

Measure: composite endpoint: pregnancy-associated thrombosis/thromboembolism, miscarriage, preeclampsia, intrauterine growth retardation

Time: 10.5 months

18 Temozolomide With Irinotecan Versus Temozolomide, Irinotecan Plus Bevacizumab (NSC# 704865) for Recurrent/Refractory Medulloblastoma/CNS PNET of Childhood, a COG Randomized Phase II Screening Trial

This randomized phase II trial studies how well giving temozolomide and irinotecan hydrochloride together with or without bevacizumab works in treating young patients with recurrent or refractory medulloblastoma or central nervous system (CNS) primitive neuroectodermal tumors. Drugs used in chemotherapy, such as temozolomide and irinotecan hydrochloride, work in different ways to stop the growth of tumor cells, either by killing the cells, by stopping them from dividing, or by stopping them from spreading. Monoclonal antibodies, such as bevacizumab, can block tumor growth in different ways. Some block the ability of tumor cells to grow and spread. Others find tumor cells and help kill them or carry tumor-killing substances to them. It is not yet known whether temozolomide and irinotecan hydrochloride are more effective with or without bevacizumab in treating medulloblastoma or CNS primitive neuroectodermal tumors.

NCT01217437 Recurrent Childhood Medulloblastoma Recurrent Childhood Pineoblastoma Recurrent Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified Biological: Bevacizumab Drug: Irinotecan Hydrochloride Drug: Temozolomide
MeSH: Medulloblastoma Pinealoma
HPO: Medulloblastoma Pineal parenchymal cell neoplasm Pinealoma Pineoblastoma Pineocytoma Supratentorial neoplasm

Inclusion Criteria: - Medulloblastoma or PNET of childhood that has relapsed or become refractory to standard chemotherapy; patients with pineoblastoma are eligible - Patients must have had histologic verification of the malignancy at original diagnosis or at the time of recurrence - Patients must have clear residual disease, defined as tumor that is measurable in two perpendicular diameters on magnetic resonance imaging (MRI) OR diffuse leptomeningeal disease OR clear MRI evidence of disease that may not be measurable in two perpendicular diameters - All patients must have a brain MRI with and without gadolinium and a spine MRI with gadolinium performed within 2 weeks prior to study enrollment - Patients must have a Lansky or Karnofsky performance status score of >= 50%, corresponding to Eastern Cooperative Oncology Group (ECOG) categories of 0, 1, or 2 (use Karnofsky for patients > 16 years of age and Lansky for patients =< 16 years of age) - Patients must have a life expectancy of >= 8 weeks - Patients must have experienced at least one and at most two relapses prior to study enrollment; patients with primary refractory disease are eligible - Patients must have fully recovered from the acute toxic effects of all prior chemotherapy, immunotherapy, or radiotherapy prior to entering this study - Myelosuppressive chemotherapy: Must not have received within 3 weeks of entry onto this study (6 weeks if prior nitrosourea) - Biologic (anti-neoplastic agent): At least 7 days since the completion of therapy with a biologic agent; at least 3 weeks for biologic agents with a long half life, such as antibodies - External beam radiation therapy (XRT): Must not have received craniospinal radiotherapy within 24 weeks prior to study entry; the tumor designated as "measurable" for protocol purposes must not have received radiation within 12 weeks prior to study entry); focal radiation to areas of symptomatic metastatic disease must not be given within 14 days of study entry - Stem cell transplant (SCT): For autologous SCT, >= 3 months must have elapsed prior to study entry - Study specific limitations on prior therapy: - Patients must not have previously received bevacizumab, irinotecan, temozolomide or other anti-vascular endothelial growth factor (VEGF) inhibitor - Patients must not be taking enzyme-inducing antiepileptic medicines within 1 week of study entry - Patients must have recovered from any surgical procedure before enrolling on this study: - Patients with a major surgical procedure within 28 days prior to enrollment should be excluded - Patients with an intermediate surgical procedure within 14 days prior to enrollment should be excluded - For minor surgical procedures (including Broviac line or infusaport placement), patients should not receive the first planned dose of bevacizumab until the wound is healed and at least 7 days have elapsed - There should be no anticipation of need for major surgical procedures during the course of the study - Examples of major, intermediate, or minor surgical procedures: - Major procedures: Major craniotomy for tumor resection; organ resection; bowel wall anastomosis; arteriovenous grafts; exploratory laparotomy; thoracotomy - Intermediate procedures: Ventriculoperitoneal (VP)-shunt placement; stereotactic brain biopsy - Minor procedures: Incision and drainage of superficial skin abscesses; punch biopsy of skin lesions; superficial skin wound suturing; bone marrow aspirate and/or biopsy; fine needle aspirations; Broviac line or infusaport placement; paracentesis or thoracocentesis - Please note: Lumbar punctures or placement of peripherally inserted central catheter (PICC) lines are not considered minor procedures and may occur at any time prior to or during therapy - Hypertension must be well controlled (=< 95th percentile for age and height if patient is =< 17 years) on stable doses of medication - Concomitant medications restrictions: - Growth factor(s): Must not have received within 7 days of entry onto this study - Steroids: Patients who are receiving corticosteroids must be on a stable or decreasing dose for at least 7 days - Study Specific: Patients must not be currently taking nonsteroidal anti-inflammatory drugs (NSAIDs), clopidrogel, dipyridamole or aspirin therapy > 81 mg/day - Peripheral absolute neutrophil count (ANC) >= 1000/uL (must not have received filgrastim [G-CSF] within the prior 7 days) - Platelet count >= 100,000/uL (transfusion independent) - Hemoglobin >= 8.0 gm/dL (may receive packed red blood cell [PRBC] transfusions) - Creatinine clearance or radioisotope glomerular filtration rate (GFR) >= 70 mL/min OR a serum creatinine based on age/gender as follows: - =< 0.4 mg/dL (for patients aged 1 month to < 6 months) - =< 0.5 mg/dL (for patients aged 6 months to < 1 year) - =< 0.6 mg/dL (for patients aged 1 to < 2 years) - =< 0.8 mg/dL (for patients aged 2 to < 6 years) - =< 1 mg/dL (for patients aged 6 to < 10 years) - =< 1.2 mg/dL (for patients aged 10 to < 13 years) - =< 1.4 mg/dL (for female patients aged >= 13 years) - =< 1.5 mg/dL (for male patients aged 13 to < 16 years) - =< 1.7 mg/dL (for male patients aged >= 16 years) - Urine protein should be screened by dipstick analysis; if protein >= 2+ on dipstick, then urine protein creatinine (UPC) ratio should be calculated; if UPC ratio > 0.5, 24-hour urine protein should be obtained and the level should be < 1000 mg/24 hours for patient enrollment - Total bilirubin =< 1.5 x upper limit of normal (ULN) for age - Serum glutamate pyruvate transaminase (SGPT) (alanine aminotransferase [ALT]) =< 3 x upper limit of normal (ULN) for age - Central nervous system function defined as - Patients with a seizure disorder may be enrolled if well-controlled and on non-enzyme inducing anticonvulsants - Adequate coagulation defined as - International normalized ratio (INR)/prothrombin time (PT) =< 1.5 x upper limit of normal Exclusion Criteria: - Patients with a serious or non-healing wound, ulcer, or bone fracture are not eligible for this study - Patients must not have a history of abdominal fistula, gastrointestinal perforation or intra-abdominal abscess within 6 months prior to study entry - Patients must not have a known bleeding diathesis or coagulopathy - Patients must not have had significant vascular disease (eg, aortic aneurysm requiring surgical repair, deep venous or arterial thrombosis) within the last 6 months prior to study entry - Patients must not have a known thrombophilic condition (i.e. protein S, protein C or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocysteinemia or antiphospholipid antibody syndrome); testing is not required in patients without thrombophilic history - Patients must not have evidence of new CNS hemorrhage on baseline MRI obtained within 14 days prior to study enrollment - Patients with a history of stroke, myocardial infarction, transient ischemic attack (TIA), severe or unstable angina, peripheral vascular disease, or grade II or greater congestive heart failure within the past 6 months are not eligible - Patients must not have serious and inadequately controlled cardiac arrhythmia - Female patients who are pregnant are not eligible for this study - Female patients who are breastfeeding are not eligible for this study unless they agree not to breastfeed - Female patients of childbearing potential must have a negative pregnancy test - Sexually active patients of childbearing potential must agree to use an effective method of contraception during the study and for at least 6 months after the completion of bevacizumab therapy - Patients with known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies Inclusion Criteria: - Medulloblastoma or PNET of childhood that has relapsed or become refractory to standard chemotherapy; patients with pineoblastoma are eligible - Patients must have had histologic verification of the malignancy at original diagnosis or at the time of recurrence - Patients must have clear residual disease, defined as tumor that is measurable in two perpendicular diameters on magnetic resonance imaging (MRI) OR diffuse leptomeningeal disease OR clear MRI evidence of disease that may not be measurable in two perpendicular diameters - All patients must have a brain MRI with and without gadolinium and a spine MRI with gadolinium performed within 2 weeks prior to study enrollment - Patients must have a Lansky or Karnofsky performance status score of >= 50%, corresponding to Eastern Cooperative Oncology Group (ECOG) categories of 0, 1, or 2 (use Karnofsky for patients > 16 years of age and Lansky for patients =< 16 years of age) - Patients must have a life expectancy of >= 8 weeks - Patients must have experienced at least one and at most two relapses prior to study enrollment; patients with primary refractory disease are eligible - Patients must have fully recovered from the acute toxic effects of all prior chemotherapy, immunotherapy, or radiotherapy prior to entering this study - Myelosuppressive chemotherapy: Must not have received within 3 weeks of entry onto this study (6 weeks if prior nitrosourea) - Biologic (anti-neoplastic agent): At least 7 days since the completion of therapy with a biologic agent; at least 3 weeks for biologic agents with a long half life, such as antibodies - External beam radiation therapy (XRT): Must not have received craniospinal radiotherapy within 24 weeks prior to study entry; the tumor designated as "measurable" for protocol purposes must not have received radiation within 12 weeks prior to study entry); focal radiation to areas of symptomatic metastatic disease must not be given within 14 days of study entry - Stem cell transplant (SCT): For autologous SCT, >= 3 months must have elapsed prior to study entry - Study specific limitations on prior therapy: - Patients must not have previously received bevacizumab, irinotecan, temozolomide or other anti-vascular endothelial growth factor (VEGF) inhibitor - Patients must not be taking enzyme-inducing antiepileptic medicines within 1 week of study entry - Patients must have recovered from any surgical procedure before enrolling on this study: - Patients with a major surgical procedure within 28 days prior to enrollment should be excluded - Patients with an intermediate surgical procedure within 14 days prior to enrollment should be excluded - For minor surgical procedures (including Broviac line or infusaport placement), patients should not receive the first planned dose of bevacizumab until the wound is healed and at least 7 days have elapsed - There should be no anticipation of need for major surgical procedures during the course of the study - Examples of major, intermediate, or minor surgical procedures: - Major procedures: Major craniotomy for tumor resection; organ resection; bowel wall anastomosis; arteriovenous grafts; exploratory laparotomy; thoracotomy - Intermediate procedures: Ventriculoperitoneal (VP)-shunt placement; stereotactic brain biopsy - Minor procedures: Incision and drainage of superficial skin abscesses; punch biopsy of skin lesions; superficial skin wound suturing; bone marrow aspirate and/or biopsy; fine needle aspirations; Broviac line or infusaport placement; paracentesis or thoracocentesis - Please note: Lumbar punctures or placement of peripherally inserted central catheter (PICC) lines are not considered minor procedures and may occur at any time prior to or during therapy - Hypertension must be well controlled (=< 95th percentile for age and height if patient is =< 17 years) on stable doses of medication - Concomitant medications restrictions: - Growth factor(s): Must not have received within 7 days of entry onto this study - Steroids: Patients who are receiving corticosteroids must be on a stable or decreasing dose for at least 7 days - Study Specific: Patients must not be currently taking nonsteroidal anti-inflammatory drugs (NSAIDs), clopidrogel, dipyridamole or aspirin therapy > 81 mg/day - Peripheral absolute neutrophil count (ANC) >= 1000/uL (must not have received filgrastim [G-CSF] within the prior 7 days) - Platelet count >= 100,000/uL (transfusion independent) - Hemoglobin >= 8.0 gm/dL (may receive packed red blood cell [PRBC] transfusions) - Creatinine clearance or radioisotope glomerular filtration rate (GFR) >= 70 mL/min OR a serum creatinine based on age/gender as follows: - =< 0.4 mg/dL (for patients aged 1 month to < 6 months) - =< 0.5 mg/dL (for patients aged 6 months to < 1 year) - =< 0.6 mg/dL (for patients aged 1 to < 2 years) - =< 0.8 mg/dL (for patients aged 2 to < 6 years) - =< 1 mg/dL (for patients aged 6 to < 10 years) - =< 1.2 mg/dL (for patients aged 10 to < 13 years) - =< 1.4 mg/dL (for female patients aged >= 13 years) - =< 1.5 mg/dL (for male patients aged 13 to < 16 years) - =< 1.7 mg/dL (for male patients aged >= 16 years) - Urine protein should be screened by dipstick analysis; if protein >= 2+ on dipstick, then urine protein creatinine (UPC) ratio should be calculated; if UPC ratio > 0.5, 24-hour urine protein should be obtained and the level should be < 1000 mg/24 hours for patient enrollment - Total bilirubin =< 1.5 x upper limit of normal (ULN) for age - Serum glutamate pyruvate transaminase (SGPT) (alanine aminotransferase [ALT]) =< 3 x upper limit of normal (ULN) for age - Central nervous system function defined as - Patients with a seizure disorder may be enrolled if well-controlled and on non-enzyme inducing anticonvulsants - Adequate coagulation defined as - International normalized ratio (INR)/prothrombin time (PT) =< 1.5 x upper limit of normal Exclusion Criteria: - Patients with a serious or non-healing wound, ulcer, or bone fracture are not eligible for this study - Patients must not have a history of abdominal fistula, gastrointestinal perforation or intra-abdominal abscess within 6 months prior to study entry - Patients must not have a known bleeding diathesis or coagulopathy - Patients must not have had significant vascular disease (eg, aortic aneurysm requiring surgical repair, deep venous or arterial thrombosis) within the last 6 months prior to study entry - Patients must not have a known thrombophilic condition (i.e. protein S, protein C or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocysteinemia or antiphospholipid antibody syndrome); testing is not required in patients without thrombophilic history - Patients must not have evidence of new CNS hemorrhage on baseline MRI obtained within 14 days prior to study enrollment - Patients with a history of stroke, myocardial infarction, transient ischemic attack (TIA), severe or unstable angina, peripheral vascular disease, or grade II or greater congestive heart failure within the past 6 months are not eligible - Patients must not have serious and inadequately controlled cardiac arrhythmia - Female patients who are pregnant are not eligible for this study - Female patients who are breastfeeding are not eligible for this study unless they agree not to breastfeed - Female patients of childbearing potential must have a negative pregnancy test - Sexually active patients of childbearing potential must agree to use an effective method of contraception during the study and for at least 6 months after the completion of bevacizumab therapy - Patients with known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies Recurrent Childhood Medulloblastoma Recurrent Childhood Pineoblastoma Recurrent Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified Medulloblastoma Pinealoma PRIMARY OBJECTIVES: l. --- G20210A ---

Inclusion Criteria: - Medulloblastoma or PNET of childhood that has relapsed or become refractory to standard chemotherapy; patients with pineoblastoma are eligible - Patients must have had histologic verification of the malignancy at original diagnosis or at the time of recurrence - Patients must have clear residual disease, defined as tumor that is measurable in two perpendicular diameters on magnetic resonance imaging (MRI) OR diffuse leptomeningeal disease OR clear MRI evidence of disease that may not be measurable in two perpendicular diameters - All patients must have a brain MRI with and without gadolinium and a spine MRI with gadolinium performed within 2 weeks prior to study enrollment - Patients must have a Lansky or Karnofsky performance status score of >= 50%, corresponding to Eastern Cooperative Oncology Group (ECOG) categories of 0, 1, or 2 (use Karnofsky for patients > 16 years of age and Lansky for patients =< 16 years of age) - Patients must have a life expectancy of >= 8 weeks - Patients must have experienced at least one and at most two relapses prior to study enrollment; patients with primary refractory disease are eligible - Patients must have fully recovered from the acute toxic effects of all prior chemotherapy, immunotherapy, or radiotherapy prior to entering this study - Myelosuppressive chemotherapy: Must not have received within 3 weeks of entry onto this study (6 weeks if prior nitrosourea) - Biologic (anti-neoplastic agent): At least 7 days since the completion of therapy with a biologic agent; at least 3 weeks for biologic agents with a long half life, such as antibodies - External beam radiation therapy (XRT): Must not have received craniospinal radiotherapy within 24 weeks prior to study entry; the tumor designated as "measurable" for protocol purposes must not have received radiation within 12 weeks prior to study entry); focal radiation to areas of symptomatic metastatic disease must not be given within 14 days of study entry - Stem cell transplant (SCT): For autologous SCT, >= 3 months must have elapsed prior to study entry - Study specific limitations on prior therapy: - Patients must not have previously received bevacizumab, irinotecan, temozolomide or other anti-vascular endothelial growth factor (VEGF) inhibitor - Patients must not be taking enzyme-inducing antiepileptic medicines within 1 week of study entry - Patients must have recovered from any surgical procedure before enrolling on this study: - Patients with a major surgical procedure within 28 days prior to enrollment should be excluded - Patients with an intermediate surgical procedure within 14 days prior to enrollment should be excluded - For minor surgical procedures (including Broviac line or infusaport placement), patients should not receive the first planned dose of bevacizumab until the wound is healed and at least 7 days have elapsed - There should be no anticipation of need for major surgical procedures during the course of the study - Examples of major, intermediate, or minor surgical procedures: - Major procedures: Major craniotomy for tumor resection; organ resection; bowel wall anastomosis; arteriovenous grafts; exploratory laparotomy; thoracotomy - Intermediate procedures: Ventriculoperitoneal (VP)-shunt placement; stereotactic brain biopsy - Minor procedures: Incision and drainage of superficial skin abscesses; punch biopsy of skin lesions; superficial skin wound suturing; bone marrow aspirate and/or biopsy; fine needle aspirations; Broviac line or infusaport placement; paracentesis or thoracocentesis - Please note: Lumbar punctures or placement of peripherally inserted central catheter (PICC) lines are not considered minor procedures and may occur at any time prior to or during therapy - Hypertension must be well controlled (=< 95th percentile for age and height if patient is =< 17 years) on stable doses of medication - Concomitant medications restrictions: - Growth factor(s): Must not have received within 7 days of entry onto this study - Steroids: Patients who are receiving corticosteroids must be on a stable or decreasing dose for at least 7 days - Study Specific: Patients must not be currently taking nonsteroidal anti-inflammatory drugs (NSAIDs), clopidrogel, dipyridamole or aspirin therapy > 81 mg/day - Peripheral absolute neutrophil count (ANC) >= 1000/uL (must not have received filgrastim [G-CSF] within the prior 7 days) - Platelet count >= 100,000/uL (transfusion independent) - Hemoglobin >= 8.0 gm/dL (may receive packed red blood cell [PRBC] transfusions) - Creatinine clearance or radioisotope glomerular filtration rate (GFR) >= 70 mL/min OR a serum creatinine based on age/gender as follows: - =< 0.4 mg/dL (for patients aged 1 month to < 6 months) - =< 0.5 mg/dL (for patients aged 6 months to < 1 year) - =< 0.6 mg/dL (for patients aged 1 to < 2 years) - =< 0.8 mg/dL (for patients aged 2 to < 6 years) - =< 1 mg/dL (for patients aged 6 to < 10 years) - =< 1.2 mg/dL (for patients aged 10 to < 13 years) - =< 1.4 mg/dL (for female patients aged >= 13 years) - =< 1.5 mg/dL (for male patients aged 13 to < 16 years) - =< 1.7 mg/dL (for male patients aged >= 16 years) - Urine protein should be screened by dipstick analysis; if protein >= 2+ on dipstick, then urine protein creatinine (UPC) ratio should be calculated; if UPC ratio > 0.5, 24-hour urine protein should be obtained and the level should be < 1000 mg/24 hours for patient enrollment - Total bilirubin =< 1.5 x upper limit of normal (ULN) for age - Serum glutamate pyruvate transaminase (SGPT) (alanine aminotransferase [ALT]) =< 3 x upper limit of normal (ULN) for age - Central nervous system function defined as - Patients with a seizure disorder may be enrolled if well-controlled and on non-enzyme inducing anticonvulsants - Adequate coagulation defined as - International normalized ratio (INR)/prothrombin time (PT) =< 1.5 x upper limit of normal Exclusion Criteria: - Patients with a serious or non-healing wound, ulcer, or bone fracture are not eligible for this study - Patients must not have a history of abdominal fistula, gastrointestinal perforation or intra-abdominal abscess within 6 months prior to study entry - Patients must not have a known bleeding diathesis or coagulopathy - Patients must not have had significant vascular disease (eg, aortic aneurysm requiring surgical repair, deep venous or arterial thrombosis) within the last 6 months prior to study entry - Patients must not have a known thrombophilic condition (i.e. protein S, protein C or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocysteinemia or antiphospholipid antibody syndrome); testing is not required in patients without thrombophilic history - Patients must not have evidence of new CNS hemorrhage on baseline MRI obtained within 14 days prior to study enrollment - Patients with a history of stroke, myocardial infarction, transient ischemic attack (TIA), severe or unstable angina, peripheral vascular disease, or grade II or greater congestive heart failure within the past 6 months are not eligible - Patients must not have serious and inadequately controlled cardiac arrhythmia - Female patients who are pregnant are not eligible for this study - Female patients who are breastfeeding are not eligible for this study unless they agree not to breastfeed - Female patients of childbearing potential must have a negative pregnancy test - Sexually active patients of childbearing potential must agree to use an effective method of contraception during the study and for at least 6 months after the completion of bevacizumab therapy - Patients with known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies Inclusion Criteria: - Medulloblastoma or PNET of childhood that has relapsed or become refractory to standard chemotherapy; patients with pineoblastoma are eligible - Patients must have had histologic verification of the malignancy at original diagnosis or at the time of recurrence - Patients must have clear residual disease, defined as tumor that is measurable in two perpendicular diameters on magnetic resonance imaging (MRI) OR diffuse leptomeningeal disease OR clear MRI evidence of disease that may not be measurable in two perpendicular diameters - All patients must have a brain MRI with and without gadolinium and a spine MRI with gadolinium performed within 2 weeks prior to study enrollment - Patients must have a Lansky or Karnofsky performance status score of >= 50%, corresponding to Eastern Cooperative Oncology Group (ECOG) categories of 0, 1, or 2 (use Karnofsky for patients > 16 years of age and Lansky for patients =< 16 years of age) - Patients must have a life expectancy of >= 8 weeks - Patients must have experienced at least one and at most two relapses prior to study enrollment; patients with primary refractory disease are eligible - Patients must have fully recovered from the acute toxic effects of all prior chemotherapy, immunotherapy, or radiotherapy prior to entering this study - Myelosuppressive chemotherapy: Must not have received within 3 weeks of entry onto this study (6 weeks if prior nitrosourea) - Biologic (anti-neoplastic agent): At least 7 days since the completion of therapy with a biologic agent; at least 3 weeks for biologic agents with a long half life, such as antibodies - External beam radiation therapy (XRT): Must not have received craniospinal radiotherapy within 24 weeks prior to study entry; the tumor designated as "measurable" for protocol purposes must not have received radiation within 12 weeks prior to study entry); focal radiation to areas of symptomatic metastatic disease must not be given within 14 days of study entry - Stem cell transplant (SCT): For autologous SCT, >= 3 months must have elapsed prior to study entry - Study specific limitations on prior therapy: - Patients must not have previously received bevacizumab, irinotecan, temozolomide or other anti-vascular endothelial growth factor (VEGF) inhibitor - Patients must not be taking enzyme-inducing antiepileptic medicines within 1 week of study entry - Patients must have recovered from any surgical procedure before enrolling on this study: - Patients with a major surgical procedure within 28 days prior to enrollment should be excluded - Patients with an intermediate surgical procedure within 14 days prior to enrollment should be excluded - For minor surgical procedures (including Broviac line or infusaport placement), patients should not receive the first planned dose of bevacizumab until the wound is healed and at least 7 days have elapsed - There should be no anticipation of need for major surgical procedures during the course of the study - Examples of major, intermediate, or minor surgical procedures: - Major procedures: Major craniotomy for tumor resection; organ resection; bowel wall anastomosis; arteriovenous grafts; exploratory laparotomy; thoracotomy - Intermediate procedures: Ventriculoperitoneal (VP)-shunt placement; stereotactic brain biopsy - Minor procedures: Incision and drainage of superficial skin abscesses; punch biopsy of skin lesions; superficial skin wound suturing; bone marrow aspirate and/or biopsy; fine needle aspirations; Broviac line or infusaport placement; paracentesis or thoracocentesis - Please note: Lumbar punctures or placement of peripherally inserted central catheter (PICC) lines are not considered minor procedures and may occur at any time prior to or during therapy - Hypertension must be well controlled (=< 95th percentile for age and height if patient is =< 17 years) on stable doses of medication - Concomitant medications restrictions: - Growth factor(s): Must not have received within 7 days of entry onto this study - Steroids: Patients who are receiving corticosteroids must be on a stable or decreasing dose for at least 7 days - Study Specific: Patients must not be currently taking nonsteroidal anti-inflammatory drugs (NSAIDs), clopidrogel, dipyridamole or aspirin therapy > 81 mg/day - Peripheral absolute neutrophil count (ANC) >= 1000/uL (must not have received filgrastim [G-CSF] within the prior 7 days) - Platelet count >= 100,000/uL (transfusion independent) - Hemoglobin >= 8.0 gm/dL (may receive packed red blood cell [PRBC] transfusions) - Creatinine clearance or radioisotope glomerular filtration rate (GFR) >= 70 mL/min OR a serum creatinine based on age/gender as follows: - =< 0.4 mg/dL (for patients aged 1 month to < 6 months) - =< 0.5 mg/dL (for patients aged 6 months to < 1 year) - =< 0.6 mg/dL (for patients aged 1 to < 2 years) - =< 0.8 mg/dL (for patients aged 2 to < 6 years) - =< 1 mg/dL (for patients aged 6 to < 10 years) - =< 1.2 mg/dL (for patients aged 10 to < 13 years) - =< 1.4 mg/dL (for female patients aged >= 13 years) - =< 1.5 mg/dL (for male patients aged 13 to < 16 years) - =< 1.7 mg/dL (for male patients aged >= 16 years) - Urine protein should be screened by dipstick analysis; if protein >= 2+ on dipstick, then urine protein creatinine (UPC) ratio should be calculated; if UPC ratio > 0.5, 24-hour urine protein should be obtained and the level should be < 1000 mg/24 hours for patient enrollment - Total bilirubin =< 1.5 x upper limit of normal (ULN) for age - Serum glutamate pyruvate transaminase (SGPT) (alanine aminotransferase [ALT]) =< 3 x upper limit of normal (ULN) for age - Central nervous system function defined as - Patients with a seizure disorder may be enrolled if well-controlled and on non-enzyme inducing anticonvulsants - Adequate coagulation defined as - International normalized ratio (INR)/prothrombin time (PT) =< 1.5 x upper limit of normal Exclusion Criteria: - Patients with a serious or non-healing wound, ulcer, or bone fracture are not eligible for this study - Patients must not have a history of abdominal fistula, gastrointestinal perforation or intra-abdominal abscess within 6 months prior to study entry - Patients must not have a known bleeding diathesis or coagulopathy - Patients must not have had significant vascular disease (eg, aortic aneurysm requiring surgical repair, deep venous or arterial thrombosis) within the last 6 months prior to study entry - Patients must not have a known thrombophilic condition (i.e. protein S, protein C or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocysteinemia or antiphospholipid antibody syndrome); testing is not required in patients without thrombophilic history - Patients must not have evidence of new CNS hemorrhage on baseline MRI obtained within 14 days prior to study enrollment - Patients with a history of stroke, myocardial infarction, transient ischemic attack (TIA), severe or unstable angina, peripheral vascular disease, or grade II or greater congestive heart failure within the past 6 months are not eligible - Patients must not have serious and inadequately controlled cardiac arrhythmia - Female patients who are pregnant are not eligible for this study - Female patients who are breastfeeding are not eligible for this study unless they agree not to breastfeed - Female patients of childbearing potential must have a negative pregnancy test - Sexually active patients of childbearing potential must agree to use an effective method of contraception during the study and for at least 6 months after the completion of bevacizumab therapy - Patients with known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies Recurrent Childhood Medulloblastoma Recurrent Childhood Pineoblastoma Recurrent Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified Medulloblastoma Pinealoma PRIMARY OBJECTIVES: l. --- G20210A --- --- G20210A ---

Primary Outcomes

Description: Percentage Probability of remaining alive 5 years after enrollment estimated by the method of Kaplan and Meier

Measure: Overall Survival

Time: Up to 5 years after enrollment

Secondary Outcomes

Description: Patient's best response during protocol therapy coded as complete response, partial response or no response.

Measure: Response

Time: Up to 12 cycles of therapy (11 months)

Description: Percentage Probability of remaining event-free 5 years after enrollment estimated by the method of Kaplan and Meier

Measure: Event-free Survival

Time: Up to 5 years after enrollment

19 A Phase II Evaluation of BIBF 1120 in the Treatment of Recurrent or Persistent Endometrial Carcinoma

This phase II trial studies the side effects and how well nintedanib works in treating patients with endometrial cancer that has come back. Nintedanib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth or by blocking blood flow to the tumor.

NCT01225887 Endometrial Adenocarcinoma Endometrial Clear Cell Adenocarcinoma Endometrial Mucinous Adenocarcinoma Endometrial Serous Adenocarcinoma Endometrial Squamous Cell Carcinoma Endometrial Transitional Cell Carcinoma Endometrial Undifferentiated Carcinoma Malignant Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm Recurrent Uterine Corpus Carcinoma Drug: Nintedanib
MeSH: Carcinoma Adenocarcinoma Carcinoma, Transitional Cell Cystadenocarcinoma, Serous Adenocarcinoma, Mucinous Cystadenocarcinoma Adenocarcinoma, Clear Cell
HPO: Carcinoma

the period of progression free survival for patients with persistent or recurrent endometrial cancer treated with study drug.. Inclusion Criteria: - Patients must have recurrent or persistent endometrial carcinoma, which is refractory to curative therapy or established treatments; histologic confirmation of the original primary tumor is required; patients with the following histologic epithelial cell types are eligible: endometrioid adenocarcinoma, serous adenocarcinoma, undifferentiated carcinoma, clear cell adenocarcinoma, mixed epithelial carcinoma, adenocarcinoma not otherwise specified (N.O.S.), mucinous adenocarcinoma, squamous cell carcinoma, and transitional cell carcinoma - All patients must have measurable disease as defined by Response Evaluation Criteria in Solid Tumors (RECIST) 1.1; measurable disease is defined as at least one lesion that can be accurately measured in at least one dimension (longest diameter to be recorded); each lesion must be >= 10 mm when measured by computed tomography (CT), magnetic resonance imaging (MRI) or caliper measurement by clinical exam; or >= 20 mm when measured by chest x-ray; lymph nodes must be >= 15 mm in short axis when measured by CT or MRI - Patient must have at least one "target lesion" to be used to assess response on this protocol as defined by RECIST 1.1; tumors within a previously irradiated field will be designated as "non-target" lesions unless progression is documented or a biopsy is obtained to confirm persistence at least 90 days following completion of radiation therapy - Patients must not be eligible for a higher priority Gynecologic Oncology Group (GOG) protocol, if one exists; in general, this would refer to any active GOG Phase III protocol or Rare Tumor protocol for the same patient population - Patients must have a GOG performance status of 0, 1, or 2 - Patients must have normal thyroid function; patients with a history of hypothyroidism are eligible, provided it is well controlled on medication - Recovery from effects of recent surgery, radiotherapy, or chemotherapy - Patients should be free of active infection requiring antibiotics (with the exception of uncomplicated urinary tract infection) - Any hormonal therapy directed at the malignant tumor must be discontinued at least one week prior to registration - Any other prior therapy directed at the malignant tumor, including chemotherapy and immunologic agents, must be discontinued at least three weeks prior to registration - Any prior radiation therapy must be completed at least 4 weeks prior to registration - Patients must have had one prior chemotherapeutic regimen for management of endometrial carcinoma; chemotherapy administered in conjunction with primary radiation as a radio-sensitizer will be counted as a systemic chemotherapy regimen - Patients are allowed to receive, but are not required to receive, one additional cytotoxic regimen for management of recurrent or persistent disease - Patients must have NOT received any non-cytotoxic (biologic or targeted) agents, as part of their primary treatment or for management of recurrent or persistent disease; non-cytotoxic (biologic or targeted) agents include (but are not limited to) monoclonal antibodies, cytokines, and small-molecule inhibitors of signal transduction; prior hormonal therapy is allowed; there is no limit on the number of prior hormonal therapies allowed - Absolute neutrophil count (ANC) greater than or equal to 1,500/mcl - Platelets greater than or equal to 100,000/mcl - Creatinine less than or equal to 1.5 x institutional upper limit normal (ULN) - Urine protein creatinine (UPC) ratio must be < 1.0 gm; if UPC ratio >= 1, collection of 24-hour urine measurement of urine protein is recommended - Bilirubin must be less than 1.5 X ULN - Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) must be less than 3 X ULN - Alkaline phosphatase must be less than 2.5 X ULN - Prothrombin time (PT) such that international normalized ratio (INR) is =< 1.5 x ULN (or an in-range INR, usually between 2 and 3, if a patient is on a stable dose of therapeutic warfarin) and a partial thromboplastin time (PTT) =< 1.5 times the institutional upper limit of normal - Electrocardiogram (EKG) must have corrected QT interval (QTc) < 450 msec without evidence of serious ventricular arrhythmia (ventricular tachycardia lasting more than 3 beats or ventricular fibrillation) - Patients must have signed an approved informed consent and authorization permitting release of personal health information - Patients must meet pre-entry requirements - Patients of childbearing potential must have a negative serum pregnancy test prior to the study entry; women of child-bearing potential must agree to use adequate contraception (two barrier methods of birth control) prior to study entry and for the duration of study participation; should a woman become pregnant or suspect she is pregnant while participating in this study, she is to inform her treating physician immediately; all patients must be willing to take contraception up to three months after the final dose of BIBF 1120 Exclusion Criteria: - Patients who have had prior therapy with BIBF 1120 - Patients with a history of other invasive malignancies, with the exception of non-melanoma skin cancer and other specific malignancies, are excluded if there is any evidence of other malignancy being present within the last three years; patients are also excluded if their previous cancer treatment contraindicates this protocol therapy - Patients who have received prior radiotherapy to any portion of the abdominal cavity or pelvis OTHER THAN for the treatment of endometrial cancer within the last three years are excluded; prior radiation for localized cancer of the breast, head and neck, or skin is permitted, provided that it was completed more than three years prior to registration, and the patient remains free of recurrent or metastatic disease - Patients who have received prior chemotherapy for any abdominal or pelvic tumor OTHER THAN for the treatment of endometrial cancer within the last three years are excluded; patients may have received prior adjuvant chemotherapy for localized breast cancer, provided that it was completed more than three years prior to registration, and that the patient remains free of recurrent or metastatic disease - Patients with serious, non-healing wound, ulcer, or bone fracture; this includes history of abdominal fistula, gastrointestinal perforation or intra-abdominal abscess within 28 days prior to the start date of treatment; patients with underlying lesions that caused the fistula or perforation in the past that have not been corrected - Patients with active bleeding or pathologic conditions that carry high risk of bleeding, such as known bleeding disorder, coagulopathy, or tumor involving major vessels - Patients with history of brain metastases, or evidence upon physical examination of active central nervous system (CNS) disease, including primary brain tumor, seizures not controlled with standard medical therapy or any brain metastases - Uncontrolled hypertension, defined as systolic >= 150 mm Hg or diastolic >= 90 mm Hg - Myocardial infarction or unstable angina within 6 months of study treatment - New York Heart Association (NYHA) class II or greater congestive heart failure - Women with an ejection fraction < institutional lower limit of normal (LLN) - History of serious ventricular arrhythmia (i.e., ventricular tachycardia or ventricular fibrillation) or cardiac arrhythmias requiring anti-arrhythmic medications (except for atrial fibrillation that is well controlled with anti-arrhythmic medication) - Common Terminology Criteria for Adverse Events (CTCAE) grade 2 or greater peripheral vascular disease - History of cerebrovascular accident (CVA, stroke), transient ischemic attack (TIA) or subarachnoid hemorrhage within six months of study treatment - Patients undergoing invasive procedures as defined below: major surgical procedure, open biopsy or significant traumatic injury within 28 days prior to the first date of treatment; major surgical procedure anticipated during the course of the study; minor surgical procedures, fine needle aspirates, or core biopsies within 7 days prior to the first date of therapy - Patients who are pregnant or nursing - Patients with a history of major thromboembolic event defined as: symptomatic pulmonary embolism (PE), recurrent asymptomatic PE, or recurrent deep venous thrombosis - Prior thrombosis or thromboembolic event due to a known inherited coagulopathy (i.e., antithrombin-III deficiency, protein C or protein S deficiency, factor V Leiden mutation presence, prothrombin G20210A mutation) - Serious infections requiring systemic antibiotics or antiviral therapy including: known active hepatitis B or C infection; known human immunodeficiency virus (HIV) infection - Gastrointestinal (GI) or other medical disorders that would impact ingestion or absorption of the drug - Patients with a history of photosensitivity or who must take agents which increase photosensitivity, e.g. --- G20210A ---

topical retinoids and doxycycline - Patients who are unable to swallow capsules Inclusion Criteria: - Patients must have recurrent or persistent endometrial carcinoma, which is refractory to curative therapy or established treatments; histologic confirmation of the original primary tumor is required; patients with the following histologic epithelial cell types are eligible: endometrioid adenocarcinoma, serous adenocarcinoma, undifferentiated carcinoma, clear cell adenocarcinoma, mixed epithelial carcinoma, adenocarcinoma not otherwise specified (N.O.S.), mucinous adenocarcinoma, squamous cell carcinoma, and transitional cell carcinoma - All patients must have measurable disease as defined by Response Evaluation Criteria in Solid Tumors (RECIST) 1.1; measurable disease is defined as at least one lesion that can be accurately measured in at least one dimension (longest diameter to be recorded); each lesion must be >= 10 mm when measured by computed tomography (CT), magnetic resonance imaging (MRI) or caliper measurement by clinical exam; or >= 20 mm when measured by chest x-ray; lymph nodes must be >= 15 mm in short axis when measured by CT or MRI - Patient must have at least one "target lesion" to be used to assess response on this protocol as defined by RECIST 1.1; tumors within a previously irradiated field will be designated as "non-target" lesions unless progression is documented or a biopsy is obtained to confirm persistence at least 90 days following completion of radiation therapy - Patients must not be eligible for a higher priority Gynecologic Oncology Group (GOG) protocol, if one exists; in general, this would refer to any active GOG Phase III protocol or Rare Tumor protocol for the same patient population - Patients must have a GOG performance status of 0, 1, or 2 - Patients must have normal thyroid function; patients with a history of hypothyroidism are eligible, provided it is well controlled on medication - Recovery from effects of recent surgery, radiotherapy, or chemotherapy - Patients should be free of active infection requiring antibiotics (with the exception of uncomplicated urinary tract infection) - Any hormonal therapy directed at the malignant tumor must be discontinued at least one week prior to registration - Any other prior therapy directed at the malignant tumor, including chemotherapy and immunologic agents, must be discontinued at least three weeks prior to registration - Any prior radiation therapy must be completed at least 4 weeks prior to registration - Patients must have had one prior chemotherapeutic regimen for management of endometrial carcinoma; chemotherapy administered in conjunction with primary radiation as a radio-sensitizer will be counted as a systemic chemotherapy regimen - Patients are allowed to receive, but are not required to receive, one additional cytotoxic regimen for management of recurrent or persistent disease - Patients must have NOT received any non-cytotoxic (biologic or targeted) agents, as part of their primary treatment or for management of recurrent or persistent disease; non-cytotoxic (biologic or targeted) agents include (but are not limited to) monoclonal antibodies, cytokines, and small-molecule inhibitors of signal transduction; prior hormonal therapy is allowed; there is no limit on the number of prior hormonal therapies allowed - Absolute neutrophil count (ANC) greater than or equal to 1,500/mcl - Platelets greater than or equal to 100,000/mcl - Creatinine less than or equal to 1.5 x institutional upper limit normal (ULN) - Urine protein creatinine (UPC) ratio must be < 1.0 gm; if UPC ratio >= 1, collection of 24-hour urine measurement of urine protein is recommended - Bilirubin must be less than 1.5 X ULN - Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) must be less than 3 X ULN - Alkaline phosphatase must be less than 2.5 X ULN - Prothrombin time (PT) such that international normalized ratio (INR) is =< 1.5 x ULN (or an in-range INR, usually between 2 and 3, if a patient is on a stable dose of therapeutic warfarin) and a partial thromboplastin time (PTT) =< 1.5 times the institutional upper limit of normal - Electrocardiogram (EKG) must have corrected QT interval (QTc) < 450 msec without evidence of serious ventricular arrhythmia (ventricular tachycardia lasting more than 3 beats or ventricular fibrillation) - Patients must have signed an approved informed consent and authorization permitting release of personal health information - Patients must meet pre-entry requirements - Patients of childbearing potential must have a negative serum pregnancy test prior to the study entry; women of child-bearing potential must agree to use adequate contraception (two barrier methods of birth control) prior to study entry and for the duration of study participation; should a woman become pregnant or suspect she is pregnant while participating in this study, she is to inform her treating physician immediately; all patients must be willing to take contraception up to three months after the final dose of BIBF 1120 Exclusion Criteria: - Patients who have had prior therapy with BIBF 1120 - Patients with a history of other invasive malignancies, with the exception of non-melanoma skin cancer and other specific malignancies, are excluded if there is any evidence of other malignancy being present within the last three years; patients are also excluded if their previous cancer treatment contraindicates this protocol therapy - Patients who have received prior radiotherapy to any portion of the abdominal cavity or pelvis OTHER THAN for the treatment of endometrial cancer within the last three years are excluded; prior radiation for localized cancer of the breast, head and neck, or skin is permitted, provided that it was completed more than three years prior to registration, and the patient remains free of recurrent or metastatic disease - Patients who have received prior chemotherapy for any abdominal or pelvic tumor OTHER THAN for the treatment of endometrial cancer within the last three years are excluded; patients may have received prior adjuvant chemotherapy for localized breast cancer, provided that it was completed more than three years prior to registration, and that the patient remains free of recurrent or metastatic disease - Patients with serious, non-healing wound, ulcer, or bone fracture; this includes history of abdominal fistula, gastrointestinal perforation or intra-abdominal abscess within 28 days prior to the start date of treatment; patients with underlying lesions that caused the fistula or perforation in the past that have not been corrected - Patients with active bleeding or pathologic conditions that carry high risk of bleeding, such as known bleeding disorder, coagulopathy, or tumor involving major vessels - Patients with history of brain metastases, or evidence upon physical examination of active central nervous system (CNS) disease, including primary brain tumor, seizures not controlled with standard medical therapy or any brain metastases - Uncontrolled hypertension, defined as systolic >= 150 mm Hg or diastolic >= 90 mm Hg - Myocardial infarction or unstable angina within 6 months of study treatment - New York Heart Association (NYHA) class II or greater congestive heart failure - Women with an ejection fraction < institutional lower limit of normal (LLN) - History of serious ventricular arrhythmia (i.e., ventricular tachycardia or ventricular fibrillation) or cardiac arrhythmias requiring anti-arrhythmic medications (except for atrial fibrillation that is well controlled with anti-arrhythmic medication) - Common Terminology Criteria for Adverse Events (CTCAE) grade 2 or greater peripheral vascular disease - History of cerebrovascular accident (CVA, stroke), transient ischemic attack (TIA) or subarachnoid hemorrhage within six months of study treatment - Patients undergoing invasive procedures as defined below: major surgical procedure, open biopsy or significant traumatic injury within 28 days prior to the first date of treatment; major surgical procedure anticipated during the course of the study; minor surgical procedures, fine needle aspirates, or core biopsies within 7 days prior to the first date of therapy - Patients who are pregnant or nursing - Patients with a history of major thromboembolic event defined as: symptomatic pulmonary embolism (PE), recurrent asymptomatic PE, or recurrent deep venous thrombosis - Prior thrombosis or thromboembolic event due to a known inherited coagulopathy (i.e., antithrombin-III deficiency, protein C or protein S deficiency, factor V Leiden mutation presence, prothrombin G20210A mutation) - Serious infections requiring systemic antibiotics or antiviral therapy including: known active hepatitis B or C infection; known human immunodeficiency virus (HIV) infection - Gastrointestinal (GI) or other medical disorders that would impact ingestion or absorption of the drug - Patients with a history of photosensitivity or who must take agents which increase photosensitivity, e.g. --- G20210A ---

Primary Outcomes

Description: The incidence of adverse events (grade 3 or higher) as assessed by the National Cancer Institute CTCAE version 4.0

Measure: Number of Participants With Adverse Events

Time: Up to 5 years

Description: Complete and Partial Tumor Response by RECIST 1.1

Measure: Objective Tumor Response

Time: For disease that can be evaluated by physical exam,response was assessed prior to each cycle CT scan or MRI if used to follow lesion for measurable disease every other cycle up to 5 years.

Description: Whether or not the patient survived progression-free for at least 6 months.

Measure: Progression-free Survival > 6 Months

Time: for disease that can be evaluated by physical exam, progression was assessed prior to each cycle. CT scan or MRI if used to follow lesion for measurable disease every other cycle up to 5 years.

Secondary Outcomes

Description: The observed length of life from entry into the study to death or the date of last contact.

Measure: Overall Survival

Time: From study entry to death or last contact, up to 5 years

Description: the period of progression free survival for patients with persistent or recurrent endometrial cancer treated with study drug.

Measure: Progression Free Survival

Time: The duration of time from study entry to time of progression or death, whichever occurs first, assessed up to 5 years

20 Prospective Study Assessing the Need for Antepartum Thromboprophylaxis in Pregnant Women With One Prior Episode of Venous Thromboembolism

Pregnant women with a prior history of venous thromboembolism (VTE) are at increased risk of recurrent VTE. Current guidelines assessing the role of prophylaxis in pregnant women with prior VTE are based primarily on expert opinion and the optimal clinical management strategy remains unclear. This multicentre, prospective cohort study aims to test the following hypotheses: 1. Antepartum prophylaxis with fixed-dose low molecular-weight heparin (LMWH) is safe, convenient and associated with an acceptably low risk of recurrent VTE in women with a single prior episode of VTE that was either unprovoked or associated with a minor transient risk factor. (Moderate risk cohort) 2. Withholding antepartum prophylaxis is safe (recurrence risk <1%) in pregnant women with a single prior episode of VTE provoked by a major transient risk factor. (Low risk cohort) All study patients will receive 6 weeks of postpartum prophylaxis.

NCT01357941 Venous Thromboembolism Deep Vein Thrombosis Pulmonary Embolism
MeSH: Pulmonary Embolism Thrombosis Thromboembolism Embolism Venous Thromboembolism Venous Thrombosis
HPO: Deep venous thrombosis Pulmonary embolism Thromboembolism Venous thrombosis

Inclusion Criteria: - Confirmed pregnancy (positive serum or urine) - At least 18 years of age - History of one prior episode of VTE consisting of DVT (diagnosed by compression ultrasonography [CUS] or venography) and/or PE (diagnosed by ventilation-perfusion [V/Q] lung scintigraphy, computed tomographic pulmonary angiography [CTPA], or traditional pulmonary angiography) Exclusion Criteria: - Ongoing need for therapeutic anticoagulation for prevention or treatment of cardioembolic stroke - Known high-risk thrombophilia (specifically antithrombin deficiency, protein S deficiency, protein C deficiency, homozygosity for the factor V Leiden or prothrombin G20210A mutations, antiphospholipid antibody or compound abnormalities) - VTE within 3 months of the current pregnancy - Clinical risk factor for initial episode of VTE, if present, not resolved (excluding pregnancy) - Known contraindication to anticoagulation (including active, uncontrolled bleeding or major bleed within the previous 4 weeks) - For patients with prior unprovoked VTE, contraindication to LMWH (including allergy, HIT, impaired renal function, osteoporosis) - Geographic or social factors precluding follow-up - Inability or unwillingness to provide informed consent Inclusion Criteria: - Confirmed pregnancy (positive serum or urine) - At least 18 years of age - History of one prior episode of VTE consisting of DVT (diagnosed by compression ultrasonography [CUS] or venography) and/or PE (diagnosed by ventilation-perfusion [V/Q] lung scintigraphy, computed tomographic pulmonary angiography [CTPA], or traditional pulmonary angiography) Exclusion Criteria: - Ongoing need for therapeutic anticoagulation for prevention or treatment of cardioembolic stroke - Known high-risk thrombophilia (specifically antithrombin deficiency, protein S deficiency, protein C deficiency, homozygosity for the factor V Leiden or prothrombin G20210A mutations, antiphospholipid antibody or compound abnormalities) - VTE within 3 months of the current pregnancy - Clinical risk factor for initial episode of VTE, if present, not resolved (excluding pregnancy) - Known contraindication to anticoagulation (including active, uncontrolled bleeding or major bleed within the previous 4 weeks) - For patients with prior unprovoked VTE, contraindication to LMWH (including allergy, HIT, impaired renal function, osteoporosis) - Geographic or social factors precluding follow-up - Inability or unwillingness to provide informed consent Venous Thromboembolism Deep Vein Thrombosis Pulmonary Embolism Pulmonary Embolism Thrombosis Thromboembolism Embolism Venous Thromboembolism Venous Thrombosis null --- G20210A ---

Inclusion Criteria: - Confirmed pregnancy (positive serum or urine) - At least 18 years of age - History of one prior episode of VTE consisting of DVT (diagnosed by compression ultrasonography [CUS] or venography) and/or PE (diagnosed by ventilation-perfusion [V/Q] lung scintigraphy, computed tomographic pulmonary angiography [CTPA], or traditional pulmonary angiography) Exclusion Criteria: - Ongoing need for therapeutic anticoagulation for prevention or treatment of cardioembolic stroke - Known high-risk thrombophilia (specifically antithrombin deficiency, protein S deficiency, protein C deficiency, homozygosity for the factor V Leiden or prothrombin G20210A mutations, antiphospholipid antibody or compound abnormalities) - VTE within 3 months of the current pregnancy - Clinical risk factor for initial episode of VTE, if present, not resolved (excluding pregnancy) - Known contraindication to anticoagulation (including active, uncontrolled bleeding or major bleed within the previous 4 weeks) - For patients with prior unprovoked VTE, contraindication to LMWH (including allergy, HIT, impaired renal function, osteoporosis) - Geographic or social factors precluding follow-up - Inability or unwillingness to provide informed consent Inclusion Criteria: - Confirmed pregnancy (positive serum or urine) - At least 18 years of age - History of one prior episode of VTE consisting of DVT (diagnosed by compression ultrasonography [CUS] or venography) and/or PE (diagnosed by ventilation-perfusion [V/Q] lung scintigraphy, computed tomographic pulmonary angiography [CTPA], or traditional pulmonary angiography) Exclusion Criteria: - Ongoing need for therapeutic anticoagulation for prevention or treatment of cardioembolic stroke - Known high-risk thrombophilia (specifically antithrombin deficiency, protein S deficiency, protein C deficiency, homozygosity for the factor V Leiden or prothrombin G20210A mutations, antiphospholipid antibody or compound abnormalities) - VTE within 3 months of the current pregnancy - Clinical risk factor for initial episode of VTE, if present, not resolved (excluding pregnancy) - Known contraindication to anticoagulation (including active, uncontrolled bleeding or major bleed within the previous 4 weeks) - For patients with prior unprovoked VTE, contraindication to LMWH (including allergy, HIT, impaired renal function, osteoporosis) - Geographic or social factors precluding follow-up - Inability or unwillingness to provide informed consent Venous Thromboembolism Deep Vein Thrombosis Pulmonary Embolism Pulmonary Embolism Thrombosis Thromboembolism Embolism Venous Thromboembolism Venous Thrombosis null --- G20210A --- --- G20210A ---

Primary Outcomes

Description: Symptomatic objectively confirmed recurrent VTE, including proximal DVT, non-fatal PE, and fatal PE during antepartum period

Measure: Symptomatic venous thromboembolism

Time: antepartum period (expected average 7 months)

Secondary Outcomes

Description: Symptomatic recurrent VTE antepartum and within first 3 months postpartum

Measure: Symptomatic recurrent venous thromboembolism

Time: antepartum period (expected average 7 months) and first 3 months postpartum

Description: Symptomatic objectively confirmed recurrent PE antepartum and within first 3 months postpartum

Measure: Symptomatic recurrent pulmonary embolism

Time: antepartum period (expected average 7 months) and first 3 months postpartum

Description: Thrombocytopenia or HIT during antepartum period

Measure: Thrombocytopenia or heparin-induced thrombocytopenia (HIT)

Time: antepartum period (expected average 7 months)

Description: Symptomatic osteoporosis antepartum and within first 3 months postpartum

Measure: Symptomatic osteoporosis

Time: antepartum period (expected average 7 months) and first 3 months postpartum

Description: Other complications sufficient to stop treatment (e.g., local and systemic reactions) antepartum and within first 3 months postpartum

Measure: Other complications

Time: antepartum (expected average 7 months) and within first 3 months postpartum

Description: Pregnancy complications and outcomes including fetal death, pre-eclampsia, toxemia, intrauterine growth restriction, prematurity during antepartum period

Measure: Pregnancy complications and outcomes

Time: antepartum period (expected average 7 months)

Description: Fetal anomalies

Measure: Fetal anomalies

Time: antepartum (expected average 7 months) and during first 3 months postpartum

Description: Major and minor bleeding

Measure: Major and minor bleeding

Time: antepartum (expected average 7 months)

21 Thrombophilic Risk Factors in Preterm and Infants Treated at Ha'Emek Medical Center Between the Years 1990 to 2010

There are several factor that can be related to Neonatal Thrombotic events. Among them hypercoagulability can be the cause of those events. Factor V Leiden (FVL) and Prothrombin mutation are the most common causes of hereditary thrombophilia. The incidence of in the arab population is known to be higher than the incidence in another western populations. The purpose of this study is to review retrospectively the thrombophilic risk factors that were found in a cohort of premature babies and term newborns treated and investigated at the Neonatal Intensive Care Unit and at the Pediatric Hematology Unit.

NCT01443273 Premature Thrombosis Other: Medical Records study
MeSH: Thrombosis

Also the three common genetic factors are analysed including Factor F Leiden (G1691A), Prothrombin Mutation (G20210A) and MTHFR polymorphism (C677T). --- G1691A --- --- G20210A ---

Primary Outcomes

Description: Recruitment of all premature and term infants born at Emek Medical Center and suffer from thrombotic events.

Measure: The frequency of thrombophilic risk factors in preterms and infants

Time: One year

22 Prevalence of Clinical and Laboratory Markers of Hypofibrinolysis in Psychotic Patients

At the Thrombophilia Clinic of the Hospital Federal dos Servidores do Estado do Rio de Janeiro there is a high prevalence of acute psychotic episodes, which allows the investigators to raise the suspicion that the thrombotic tendency or hypofibrinolysis play a role in the onset of the disease. It is striking that most of these patients, after some time on anticoagulants, no longer need to take psychiatric medication.

NCT01487291 Insulin Resistance Thrombophilia Psychosis
MeSH: Thrombophilia Insulin Resistance
HPO: Hypercoagulability Insulin resistance

This study intents to investigate the prevalence of hypofibrinolysis markers, such as PAI-1 4G/5G and 4G/4G, protein S deficiency, antiphospholipid antibodies and prothrombin G20210A, in psychotic patients. --- G20210A ---

Primary Outcomes

Description: The investigators' hypothesis is that a high prevalence of hypofibrinolysis markers will be probably found in psychotic patients.

Measure: Prevalence of hypofibrinolysis markers in psychotic patients

Time: One year

Secondary Outcomes

Description: The investigators are assessing clinical and laboratory markers of plasminogen activator imbalance in psychiatric patients who require electroconvulsive therapy, specifically patients with major depressive disorders and schizophrenia.

Measure: Prevalence of Clinical and Laboratory Markers of Hypofibrinolysis in Patients who Need Electroconvulsive Therapy

Time: 2013-2014

23 Effectiveness of Aspirin in Compare With Heparin Plus Aspirin in Recurrent Pregnancy Loss Treatment

This study evaluated the effect of anticoagulant treatment on the live-birth rate in women with a history of at least two continuous unexplained miscarriages or thrombophilia. It also compared two methods of treatment with aspirin and aspirin plus heparin.

NCT01542411 Recurrent Pregnancy Loss
MeSH: Abortion, Habitual

Inclusion Criteria: - unexplained recurrent miscarriage, - women had previous venous or arterial thromboembolism or who were heterozygous or homozygous for mutations for FV Leiden G1691A, prothrombin gene G20210A (FII G20210A), and methyltetrahydrofolate reductase C677T (MTHFR C677T) Exclusion Criteria: - abnormal karyotypes of both partners, - uterine and cervical anatomical disorders on pelvic ultrasonography or hysteroscopy, - abnormal ovaries and abnormal endocrine tests. --- G1691A --- --- G20210A ---

Inclusion Criteria: - unexplained recurrent miscarriage, - women had previous venous or arterial thromboembolism or who were heterozygous or homozygous for mutations for FV Leiden G1691A, prothrombin gene G20210A (FII G20210A), and methyltetrahydrofolate reductase C677T (MTHFR C677T) Exclusion Criteria: - abnormal karyotypes of both partners, - uterine and cervical anatomical disorders on pelvic ultrasonography or hysteroscopy, - abnormal ovaries and abnormal endocrine tests. --- G1691A --- --- G20210A --- --- G20210A ---


24 Randomized Double Blind Placebo-controlled Phase II Trial of Vargatef® (Nintedanib) in Addition to First Line Chemotherapy With Interval Debulking Surgery in Patients With Adenocarcinoma of the Ovary, the Fallopian Tube or Serous Adenocarcinoma of the Peritoneum

Patients with extensive and bulky disease are often those whose initial surgery is delayed after 3 or 4 cycles of neo-adjuvant chemotherapy. In that case, there is, indeed, some concern to administer bevacizumab during the chemotherapy surrounding the interval debulking surgery due to the long half life (14- 21 days) of this monoclonal antibody and the interference of anti angiogenic agents with wound healing. Vargatef® (Nintedanib) might offer a better alternative to bevacizumab in the neo-adjuvant setting. Vargatef® (Nintedanib) has a much shorter half-life of 7 to 19 hours. Preliminary experience in cancer did not show a trend for increased incidence of fistula or bowel perforation. For more details please refer to the investigator drug brochure for Vargatef® (Nintedanib). This trial will compare progression-free survival and surgical complications of 188 patients with FIGO stage IIIC/IV treated in first line with either neo-adjuvant chemotherapy (carboplatin & paclitaxel) and interval debulking surgery or the same treatment + Vargatef® (Nintedanib).

NCT01583322 Ovarian Cancer Drug: vargatef Drug: placebo
MeSH: Ovarian Neoplasms Carcinoma, Ovarian Epithelial
HPO: Ovarian neoplasm

germ cell tumour, malignant mixed mullerian tumour, sex cord-stromal tumour) of the ovary, the fallopian tube or peritoneum or borderline tumour of the ovary (tumour of low malignant potential), - Non-healing wound, ulcer (intestinal tract, skin) or bone fracture, - Clinical symptoms or signs of gastrointestinal obstruction, - History of major thromboembolic event, defined as: - Pulmonary embolism (PE) within 6 months prior to enrolment, - Recurrent pulmonary embolism (history of at least 2 events), - History of at least 2 unprovoked (without a transient or reversible risk factor) events of proximal deep venous thrombosis, - Prior thrombosis or thromboembolic event in the presence of an inherited coagulopathy (including deficiency of antithrombin, deficiency of protein C or protein S, Factor V Leiden mutation, Prothrombin G20210A mutation), - Patients with perioperative thrombosis including proximal deep vein thrombosis (DVT) or thrombosis of visceral vessels not associated with pulmonary embolism may be included in the trial if stable therapeutic anticoagulation is documented, - Known inherited or acquired bleeding disorder, - Significant cardiovascular diseases, including: - Hypertension not controlled by medical therapy, - Unstable angina within the past 6 months, - History of myocardial infarction within the past 6 months, - Congestive heart failure > NYHA II, - Clinically relevant cardiac arrhythmia - Peripheral vascular disease Fontaine stage ≥3, - Clinically relevant pericardial effusion (e.g. --- G20210A ---

Primary Outcomes

Measure: Median Progression-free Survival (PFS) in each study arm

Time: average of 18 months

Secondary Outcomes

Measure: Response rate

Time: 2 months after beginning of treatment

25 Fixed-dose vs. Phenotype-based PrAsugrel Dose to MATCH Therapeutic Zone in Asians With Acute Coronary Syndrome

The purpose of this study is to determine whether the fixed-dose (prasugrel 10 mg/d vs. 5 mg/d) vs. phenotype (platlet function test by VerifyNow P2Y12 assay)-based prasugrel dose adjustment can match therapeutic zone of platelet reactivity in PCI-treated Asians with acute coronary syndrome

NCT01951001 Acute Coronary Syndrome Platelet Thrombus Bleeding Drug: Prasugrel
MeSH: Acute Coronary Syndrome Thrombosis Syndrome

The convincing associations of arterial thrombosis to coagulation system and inflammation have been repeatedly demonstrated in multiple clinical trials: fibrinogen, factor V Leiden (G1691A) and prothrombin G20210A gene mutations, high-sensitivity C-reactive protein (CRP) and so on. --- G1691A --- --- G20210A ---

Primary Outcomes

Description: "Therapeutic zone" has been defined based on the previous clinical trials (95 ≤ VerifyNow P2Y12 Reaction Unit ≤ 208)

Measure: Percentage of patients showing the optimal therapeutic zone

Time: 1 month

Secondary Outcomes

Description: BARC Definition for bleeding: defined as type 1, 2, 3 (3a, 3b and 3c), 4, and 5 (5a and 5b), according to the Bleeding Academic Research Consortium classification Type 1 (nuisance or superficial bleeding Type 2 (internal bleeding) Type 3a (TIMI minor bleeding) Type 3b (TIMI major bleeding) Type 3c (life threatening bleeding) Type 4 (CABG-related bleeding) Type 5a (probable fatal bleeding) Type 5b (definite fatal bleeding)

Measure: Prevalence of BARC bleeding (type 2 + 3 + 5 or type 1+ 2 + 3 + 4+ 5)

Time: 1 month

Description: "LPR" means "low on-treatment platelet reactivity", which can increase the risk of clinically serious bleeding

Measure: The cutoff of "LPR" in Asians

Time: 1 month

Description: Multiple clinical studies have shown that the cutoff of about 275 PRU is associated with the risk of ischemic event in Asians. LPR will be based on the data of the A-MATCh trial.

Measure: Percentage of patietns to match Asian therapeutic zone of platelet reactivity

Time: 1 month

Other Outcomes

Description: MACE includes composite of CV death, non-fatal MI, stent thrombosis, stroke or ischemia-driven TVR

Measure: Composite of major adverse clinical events (MACE)

Time: 1 month

26 A Randomized, Global, Double-blind, Placebo-controlled, Parallel-group Study to Evaluate the Efficacy and Safety of Once-daily Oral Avatrombopag for the Treatment of Adults With Thrombocytopenia Associated With Liver Disease Prior to an Elective Procedure

This is a global, multicenter, randomized, double-blind, placebo-controlled, parallel group study using avatrombopag to treat adults with thrombocytopenia associated with liver disease. The study will evaluate avatrombopag in the treatment of thrombocytopenia associated with liver disease prior to an elective procedure to reduce the need for platelet transfusions or any rescue procedure for bleeding due to procedural and post-procedural bleeding complications. Participants will be enrolled into 2 cohorts according to mean baseline platelet count and, within each baseline platelet count cohort will be further stratified by risk of bleeding associated with the elective procedure (low, moderate, or high) and hepatocellular carcinoma (HCC) status (Yes or No).

NCT01972529 Thrombocytopenia Associated With Liver Disease Drug: avatrombopag (lower baseline platelet count) Drug: placebo (lower baseline platelet count) Drug: avatrombopag (higher baseline platelet count) Drug: placebo (higher baseline platelet count)
MeSH: Liver Diseases Thrombocytopenia
HPO: Abnormality of the liver Decreased liver function Elevated hepatic transaminase Thrombocytopenia

Known medical history of genetic prothrombotic syndromes (eg, Factor V Leiden; prothrombin G20210A; ATIII deficiency, etc.) 18. Participants with a history of significant cardiovascular disease (eg, congestive heart failure New York Heart Association Grade III/IV, arrhythmia known to increase the risk of thromboembolic events [eg, atrial fibrillation], coronary artery stent placement, angioplasty, and coronary artery bypass grafting) 19. --- G20210A ---

Primary Outcomes

Description: Responders were defined as participants who did not require a platelet transfusion or any rescue procedure for bleeding after randomization and up to 7 days following a scheduled procedure. Participants with missing information due to early withdrawal or other reasons were conservatively considered as having received a transfusion in the analysis, (i.e. a Non-responder).

Measure: Percentage of Participants Who Did Not Require a Platelet Transfusion or Any Rescue Procedure for Bleeding After Randomization Following a Scheduled Procedure

Time: Baseline (Visit 2) up to 7 days following a scheduled procedure

Secondary Outcomes

Description: Responders were defined as participants who achieved a platelet count greater than or equal to 50 x 10^9/L on the procedure day. Participants with missing a platelet count on the procedure day were conservatively considered as not achieving a platelet count of 50x10^9/L in the analysis, (i.e. Non-responders).

Measure: Percentage of Participants Who Achieved a Platelet Count Greater Than or Equal to 50 x 10^9/L on the Scheduled Procedure Day

Time: Day 10 to Day 13 (Visit 4)

Description: Last observation carried forward was used for participants with a missing platelet count on the scheduled procedure day. Platelet count was measured preprocedure and before any platelet transfusion.

Measure: Change From Baseline in Platelet Count on the Scheduled Procedure Day

Time: Baseline (Visit 2) to Procedure Day 10 to Day 13 (Visit 4)

Other Outcomes

Description: The severity of bleeding events was assessed by the investigator (or appropriately delegated study site personnel) using the WHO bleeding scale. The WHO bleeding scale is a clinical investigator-assessed five-point scale with Grade 0 = No bleeding, Grade 1 = Petechial bleeding, Grade 2 = Mild blood loss (clinically significant), Grade 3 = Gross blood loss (requires transfusion (severe)), and Grade 4 = Debilitating blood loss, retinal or cerebral associated with fatality. Participants with missing information are considered as having a WHO bleeding score greater than or equal to 2 in the analysis.

Measure: Percentage of Participants With a World Health Organization (WHO) Bleeding Score Greater Than or Equal to 2 After a Scheduled Procedure

Time: Baseline (Visit 2) up to 7 days post scheduled procedure

Description: Safety assessments consisted of monitoring and recording all adverse events (AEs) and serious adverse events, including platelet transfusion-related complications; routine laboratory evaluation for hematology, serum chemistry, and urine values; periodic measurement of vital signs and electrocardiograms (ECGs); the performance of physical examinations; and Doppler sonography. AE severity was graded using Common Terminology Criteria for Adverse Events (CTCAE) version 4.0, where Grade 1 = mild, Grade 2 = moderate, Grade 3 = Severe, Grade 4 = Life-threatening, and Grade 5 = Death related to the AE. All AEs graded as 4 or 5 were considered to be serious. Treatment-emergent adverse events (TEAEs) were defined as an AE that started on or after the date of first dose of study drug, up to 30 days after the last dose of study drug. Treatment-related AEs were considered by the investigator to be possibly or probably related to study drug.

Measure: Number of Participants Experiencing an Adverse Event

Time: From date of first dose of study drug up to 30 days after the last dose of study drug, up to approximately 3 years

27 A Randomized, Global, Double-blind, Placebo-controlled, Parallel-group Study to Evaluate the Efficacy and Safety of Once-daily Oral Avatrombopag for the Treatment of Adults With Thrombocytopenia Associated With Liver Disease Prior to an Elective Procedure

This is a global, multicenter, randomized, double-blind, placebo-controlled, parallel group study using avatrombopag to treat adults with thrombocytopenia associated with liver disease. The study will evaluate avatrombopag in the treatment of thrombocytopenia associated with liver disease prior to an elective procedure to reduce the need for platelet transfusions or any rescue procedure for bleeding due to procedural and post-procedural bleeding complications. Participants will be enrolled into 2 cohorts according to mean baseline platelet count and, within each baseline platelet count cohort will be further stratified by risk of bleeding associated with the elective procedure (low, moderate, or high) and hepatocellular carcinoma (HCC) status (Yes or No).

NCT01976104 Thrombocytopenia Associated With Liver Disease Drug: avatrombopag (lower baseline platelet count) Drug: placebo (lower baseline platelet count) Drug: avatrombopag (higher baseline platelet count) Drug: placebo (higher baseline platelet count)
MeSH: Liver Diseases Thrombocytopenia
HPO: Abnormality of the liver Decreased liver function Elevated hepatic transaminase Thrombocytopenia

Known medical history of genetic prothrombotic syndromes (eg, Factor V Leiden; prothrombin G20210A; ATIII deficiency, etc.) 18. Participants with a history of significant cardiovascular disease (eg, congestive heart failure New York Heart Association Grade III/IV, arrhythmia known to increase the risk of thromboembolic events [eg, atrial fibrillation], coronary artery stent placement, angioplasty, and coronary artery bypass grafting) 19. --- G20210A ---

Primary Outcomes

Description: Responders were defined as participants who did not require a platelet transfusion or any rescue procedure for bleeding after randomization and up to 7 days following a scheduled procedure. Participants with missing information due to early withdrawal or other reasons were conservatively considered as having received a transfusion in the analysis, (i.e. a Non-responder).

Measure: Percentage of Participants Who Did Not Require a Platelet Transfusion After Randomization and up to 7 Days Following a Scheduled Procedure

Time: Randomization (Visit 2), up to 7 Days following a scheduled procedure

Secondary Outcomes

Description: Responders were defined as participants who achieved a platelet count greater than or equal to 50 x 10^9/L on the procedure day. Participants missing a platelet count on the procedure day were conservatively considered as not achieving a platelet count of 50x10^9/L in the analysis, (i.e. Non-responders).

Measure: Percentage of Participants Who Achieved a Platelet Count Greater Than or Equal to 50 x 10^9/L on Scheduled Procedure Day

Time: Day 10 to Day 13 (Visit 4)

Description: Last observation carried forward was used for participants with a missing platelet count on the scheduled procedure day. Platelet count was measured preprocedure and before any platelet transfusion.

Measure: Change From Baseline in Platelet Counts on Scheduled Procedure Day

Time: Baseline (Visit 2) to Procedure Day 10 to Day 13 (Visit 4)

Other Outcomes

Description: The severity of bleeding events was assessed by the investigator (or appropriately delegated study site personnel) using the WHO bleeding scale. The WHO bleeding scale is a clinical investigator-assessed five-point scale with Grade 0 = No bleeding, Grade 1 = Petechial bleeding, Grade 2 = Mild blood loss (clinically significant), Grade 3 = Gross blood loss requires transfusion (severe), and Grade 4 = Debilitating blood loss, retinal or cerebral associated with fatality. Participants with missing information are considered as having a WHO bleeding score greater than or equal to 2 in the analysis.

Measure: Percentage of Participants With a World Health Organization (WHO) Bleeding Score Greater Than or Equal to 2 After Randomization and up to 7 Days After an Scheduled Procedure

Time: Baseline (Visit 2) up to 7 days post scheduled procedure

Description: Safety assessments consisted of monitoring and recording all adverse events (AEs) and serious adverse events, including platelet transfusion-related complications; routine laboratory evaluation for hematology, serum chemistry, and urine values; periodic measurement of vital signs and electrocardiograms (ECGs); the performance of physical examinations; and Doppler sonography. AE severity was graded using Common Terminology Criteria for Adverse Events (CTCAE) version 4.0, where Grade 1 = mild, Grade 2 = moderate, Grade 3 = Severe, Grade 4 = Life-threatening, and Grade 5 = Death related to the AE. All AEs graded as 4 or 5 were considered to be serious. Treatment-emergent adverse events (TEAEs) were defined as an AE that started on or after the date of first dose of study drug, up to 30 days after the last dose of study drug. Treatment-related AEs were considered by the investigator to be possibly or probably related to study drug.

Measure: Number of Participants Experiencing an Adverse Event

Time: From date of first dose of study drug up to 30 days after the last dose of study drug, up to approximately 3 years and 2 months

28 Pilot Study of Post-thrombotic Syndrome & Predictors of Recurrence in Cancer Patients With Catheter-related Thrombosis

The goal of the pilot study is to determine if a multicenter prospective cohort study of cancer patients with blood clots associated with catheters is feasible. Cancer patients with catheter-related thrombosis treated with one month of anticoagulation will be evaluated for for post-thrombotic syndrome. Laboratory biomarkers will be evaluated as predictors of recurrent thrombosis.

NCT01999179 Venous Thrombosis Neoplasms Drug: Heparin, Low-Molecular-Weight, or direct oral anticoagulants
MeSH: Thrombosis Venous Thrombosis Postthrombotic Syndrome Postphlebitic Syndrome Recurrence
HPO: Deep venous thrombosis Venous thrombosis

- >18 years of age - Platelet count >50,000 - Creatinine clearance >30 ml/min - Ability to provide informed consent Exclusion Criteria: - Underlying medical condition or chemotherapy requiring long-term anticoagulation - Known underlying higher risk thrombophilias including antiphospholipid antibody syndrome, antithrombin, protein C or protein S deficiencies, or homozygosity or compound heterozygosity for prothrombin G20210A or Factor V R506Q mutations. --- G20210A ---

Primary Outcomes

Description: Recruitment of 56 patients in 1 year and 80% completion of post-thrombotic syndrome assessments by enrolled patients

Measure: Number of cancer patients enrolled with catheter-related thrombosis treated with 1 month of anticoagulation

Time: 1 year

Secondary Outcomes

Description: Obtaining 80% of samples from enrolled patients

Measure: Number of plasma samples obtained for biomarker analysis to predict recurrent venous thrombosis

Time: 1 year

Other Outcomes

Description: <20% will have incidence of post-thrombotic syndrome 6 months after catheter removal

Measure: Incidence of post-thrombotic syndrome in cancer patients with catheter-related thrombosis treated with 1 month of anticoagulation

Time: 6 months after catheter removal

Description: <20% will have incidence of post-thrombotic syndrome 6 months after catheter removal

Measure: Incidence of recurrent thrombosis in cancer patients with catheter-related thrombosis treated with 1 month of anticoagulation

Time: 6 months after catheter removal

Description: <20% will have incidence of post-thrombotic syndrome 6 months after catheter removal

Measure: Incidence of major and clinically relevant non-major bleeding in cancer patients with catheter-related thrombosis treated with 1 month of anticoagulation

Time: 6 months after catheter removal

29 Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors, A Feasibility Study

To determine if FDOPA-PET/MRI imaging can predict response to treatment of bevacizumab.

NCT01999270 Astrocytoma, Oligoastrocytoma, Mixed Ganglioneuroma Glioma Ganglioglioma Glioblastoma Multiforme Glioma Drug: Irinotecan Drug: Bevacizumab Device: FDOPA-PET/MRI imaging
MeSH: Glioblastoma Glioma Astrocytoma Ganglioglioma Ganglioneuroma
HPO: Astrocytoma Ganglioneuroma Glioblastoma multiforme Glioma Subependymal giant-cell astrocytoma

- Patient must not have a known thrombophilic condition (i.e. protein S, protein C or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocysteinemia, or antiphospholipid antibody syndrome). --- G20210A ---

Primary Outcomes

Description: The imaging is evaluated: (a) the uptake of PET tracer FDOPA measured by average and maximal standardized uptake values (SUVs) as well as tumor to normal brain ratios; and (b) tumor volumes defined by MRI signal abnormality.

Measure: FDOPA-PET/MRI imaging

Time: 1 year

30 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Once-daily Oral Avatrombopag in Japanese Subjects With Chronic Liver Disease and Thrombocytopenia

This is a phase 2, randomized, double-blind, placebo-controlled, parallel group study using avatrombopag for Japanese subjects with thrombocytopenia associated with chronic liver disease. This study will assess the effect of avatrombopag on platelet counts in Japanese subjects. Subjects will be enrolled into 2 cohorts according to the mean platelet count measured at Screening and Baseline. Within the lower baseline platelet count cohort (less than 40 x 10^9/L), subjects will be randomized in a 1:1:1:3 ratio to receive placebo, 20 mg avatrombopag, 40 mg avatrombopag, or 60 mg avatrombopag for 5 days. Within the higher baseline platelet count cohort (from 40 to less than 50 x 10^9/L), subjects will be randomized in a 2:1:2 ratio to receive placebo, 20 mg avatrombopag, or 40 mg avatrombopag for 5 days.

NCT02227693 Thrombocytopenia Associated With Chronic Liver Di Thrombocytopenia Associated With Chronic Liver Disease Drug: avatrombopag Drug: Placebo
MeSH: Liver Diseases Thrombocytopenia
HPO: Abnormality of the liver Decreased liver function Elevated hepatic transaminase Thrombocytopenia

Known medical history of genetic prothrombotic syndromes (eg, Factor V Leiden; prothrombin G20210A; ATIII deficiency etc.) 17. --- G20210A ---

Primary Outcomes

Description: Responders were defined as participants whose platelet count was greater than or equal to 50×10^9/liter (L) and change from baseline was at least 20×10^9/L at Visit 4. Participants receiving a platelet transfusion prior to the platelet count assessment at Visit 4 were considered as non-responders in the analysis. Two-sided 95% confidence interval (CI) is calculated by Clopper and Pearson method.

Measure: Percentage of Participants With Platelet Count Greater Than or Equal to 50 x 10^9/L and at Least 20 x 10^9/L Increase From Baseline at Visit 4

Time: Baseline and Visit 4 (Day 10)

Secondary Outcomes

Description: Responders were defined as the participants whose platelet count greater than or equal to 50 x 10^9/L by visit. Participants receiving a platelet transfusion prior to the platelet count assessment at Visit 4 were considered as non-responders in the analysis. Two-sided 95% CI is calculated by Clopper and Pearson method.

Measure: Percentage of Participants With Platelet Count Greater Than or Equal to 50 x 10^9/L at Each Visit

Time: Visit 3 (Day 4 or 5), Visit 4 (Day 10), Visit 5 (Day 17) and Visit 6 (Day 35)

Description: Responders were defined as the participants whose platelet count greater than or equal to 75 x 10^9/L by visit. Participants receiving a platelet transfusion prior to the platelet count assessment at Visit 4 were considered as non-responders in the analysis. Two-sided 95% CI is calculated by Clopper and Pearson method.

Measure: Percentage of Participants With Platelet Count Greater Than or Equal to 75 x 10^9/L at Each Visit

Time: Visit 3 (Day 4 or 5), Visit 4 (Day 10), Visit 5 (Day 17) and Visit 6 (Day 35)

Description: Responders were defined as the participants whose platelet count greater than or equal to 150 x 10^9/L by visit. Participants receiving a platelet transfusion prior to the platelet count assessment at Visit 4 were considered as non-responders in the analysis.

Measure: Percentage of Participants With Platelet Count Greater Than or Equal to 150 x 10^9/L At Each Visit

Time: Visit 3 (Day 4 or 5), Visit 4 (Day 10), Visit 5 (Day 17) and Visit 6 (Day 35)

Description: Responders were defined as the participants whose platelet count greater than or equal to 200 x 10^9/L by visit. Participants receiving a platelet transfusion prior to the platelet count assessment at Visit 4 were considered as non-responders in the analysis.

Measure: Percentage of Participants With Platelet Count Greater Than or Equal to 200 x 10^9/L At Each Visit

Time: Visit 3 (Day 4 or 5), Visit 4 (Day 10), Visit 5 (Day 17) and Visit 6 (Day 35)

Measure: Platelet Count and Change From Baseline in Platelet Count by Visit

Time: Baseline, Visit 3 (Day 4 or 5), Visit 4 (Day 10), Visit 5 (Day 17) and Visit 6 (Day 35)

Other Outcomes

Description: Safety assessments consisted of monitoring and recording all AEs and SAEs, regular monitoring of hematology, blood chemistry, and urine values; periodic measurement of vital signs and electrocardiograms; physical examinations; and Doppler sonography. AE severity was graded using Common Terminology Criteria for Adverse Events (CTCAE) version 4.0, where Grade 1 = mild, Grade 2 = moderate, Grade 3 = Severe, Grade 4 = Life-threatening, and Grade 5 = Death related to the AE. All AEs graded as 4 or 5 were considered to be serious. A treatment-emergent adverse event (TEAE) was defined as an AE that started on or after the date of first dose of study drug, up to 30 days after the last dose of study drug. For each category, a participant with two or more adverse events in that category was counted only once. Treatment-related TEAEs were considered by the investigator to be possibly or probably related to study drug or TEAEs with a missing causality.

Measure: Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs)

Time: From the date of first dose of study drug up to 30 days after the last dose of the study drug, up to approximately 10 months

Measure: Number of Participants With Treatment-emergent Markedly Abnormal Laboratory Value (TEMAV) for Haematology

Time: From the date of Screening until the date of last dose of study drug plus 30 days (Approximately 10 months)

Measure: Number of Participants With Clinically Significant Findings in Laboratory Values for Serum

Time: From the date of Screening until the date of last dose of study drug plus 30 days (Approximately 10 months)

Measure: Number of Participants With Clinically Significant Findings in Laboratory Values for Urinalysis

Time: From the date of Screening until the date of last dose of study drug plus 30 days (Approximately 10 months)

Measure: Number of Participants With Clinically Significant Change From Baseline in Vital Sign Values

Time: From the date of Screening until the date of last dose of study drug plus 30 days (Approximately 10 months)

Measure: Number of Participants With Markedly Abnormal Electrocardiographs

Time: From the date of Screening until the date of last dose of study drug plus 30 days (Approximately 10 months)

31 A Proposal of a Prospective Study on Prevention of Pregnancy Loss in Women Carrying Inherited Thrombophilia

The occurrence of a spontaneous fetal loss (FL) is a rather frequent event: it has been estimated that up to 15% of pregnancies result in a fetal loss. However, recurrent events, defined as >2 or >3 loss, depending on the guidelines used (American College of Obstetricians and Gynecologists or Royal College of Obstetricians Gynaecologists guidelines), occur in 1 % of all pregnancies and it is noteworthy that Recurrent Fetal Loss ( RFL) in about 30-40% of cases remain unexplained after standard gynaecological, hormonal and karyotype investigations. Furthermore, it is important to consider that chromosomal abnormalities are responsible for at least 60% of FL in the first trimester, thus an abnormal karyotype in the fetus should be excluded prior to consider testing women for genetic susceptibility to placental vascular complications (inherited thrombophilia). Common inherited conditions, the factor V Leiden (FV) and the factor II G20210A (FII) mutations have been recognized as risk factors for FL. The efficacy of treatment with antithrombotic drugs during pregnancy in women with a history of RFL/ Intra Uterine Fetal Death (IUFD) and thrombophilia is still debated, due to scarcity of available data. Italian guidelines suggest the use of Low-Molecular-Weight Heparin (LMWH) in women with FV or FII mutations and previous otherwise unexplained obstetric complications, while guidelines released by RCOG suggest that heparin therapy during pregnancy may improve the live birth rate in women with second trimester loss associated with inherited thrombophilias. Hence, the idea to propose this prospective observational study comparing clinical data and outcomes in women with common inherited thrombophilias and in women without. During this study the investigators will collect and evaluate clinical data from examinations and visits by patients, eligible for the study as carriers of thrombophilic defects. This observation will begin before pregnancy and continue until the puerperium, allowing us to study all possible factors influencing these conditions. The study will add knowledge for improving feto-maternal prognosis and preventing spontaneous and recurrent FL. Plan of the study: multicenter observational study

NCT02385461 Pregnancy Complications Drug: Low Molecular Weight Heparins (LMWHs)
MeSH: Pregnancy Complications Thrombophilia
HPO: Hypercoagulability

Common inherited conditions, the factor V Leiden (FV) and the factor II G20210A (FII) mutations have been recognized as risk factors for FL. --- G20210A ---

Primary Outcomes

Measure: Number of live births

Time: 10 months

32 Clinical Investigation to Evaluate the Haemonetics POLFA Modified Sample Needle Assembly With Vacuum Tube Holder

This study evaluates whether whole blood transferred through the new POLFA needle assembly meets supernatant hemoglobin acceptability standards.

NCT02476851 Transmission, Blood, Recipient/Donor Device: POLFA (Needle Assembly) Device: Kawasumi (Needle Assembly)

- Study donors must not have experienced any of the following: Physical trauma consistent with associated coagulopathy within the last 30 days, Surgery within the last 30 days, Known history of hypercoagulopathy (i.e., Factor V Leiden, Prothrombin G20210A, idiopathic venous thrombotic events, etc.). --- G20210A ---

Primary Outcomes

Description: demonstrate within a 95% CI and 95% reliability that whole blood transferred to a Vacutainer® through the POLFA needle will have supernatant hemoglobin levels <100 mg/dL

Measure: Plasma supernatant hemoglobin

Time: within 1 month of enrollment

33 Thromboprophylaxis in Pregnant Women in Hospital: A Prospective Clinical Trial

Hospitalization in pregnancy and childbirth greatly increases the thromboembolic risk of these patients. The application of a protocol for assessing the risk of VTE reduces mortality and morbidity of these phenomena.

NCT02600260 Thrombophilia Associated With Pregnancy Perioperative/Postoperative Complications Venous Thrombosis Pulmonary Embolism Other Specified Risk Factors in Pregnancy Deep Vein Thrombosis Drug: Enoxaparin Other: No intervention
MeSH: Pulmonary Embolism Thrombosis Embolism Venous Thrombosis Thrombophilia Postoperative Complications
HPO: Deep venous thrombosis Hypercoagulability Pulmonary embolism Venous thrombosis

Risk score description: score 3 - previous thrombosis/thromboembolism, homozygous mutations, combined thrombophilia risk factors, antiphospholipid syndrome, cancer(stomach, pancreas, lung), inflammatory conditions, lupus, sickle cell disease, nephrotic syndrome, heart disease; Score 2 - Protein C deficiency, Protein S deficiency, heterozygous F5 Leiden, heterozygous F2 G20210A mutation, cancer(last 6 months), chemotherapy(last 6m), immobility, bed rest >4d prior to C-section, current serious infections, BMI≥40 kg/m2 , age≥40y, lung disease(cyanosis), postpartum hemorrhage >1L; Score 1 - age ≥ 35 and ≤39 y, parity ≥3, multiple pregnancy, hyperemesis, gross varicose veins, smoker ≥20, surgical procedure. --- G20210A ---

Primary Outcomes

Description: Identify early risk factors for VTE in hospitalized pregnant women and prescribe appropriate prophylaxis to reduce the incidence, morbidity and mortality of VTE. The patients that score ≥ 3 will receive enoxaparin. This group will be analyzed for the incidence of adverse outcomes: VTE, bleeding, death until 3 months post hospitalization. This same analysis will be done in those patients who have not received heparin. The patients that could not receive heparin due to bleeding risk will be analyzed also. The analysis of the score will also describe if the higher the score, the higher the index of adverse events, mainly when it is not possible to prescribe the prophylaxis.

Measure: Number of hospitalized pregnant patients with venous thromboembolism (VTE), death and adverse events after applying an in hospital risk score for thrombosis at 12 weeks post discharge.

Time: 4 years

34 Risk Factors for Variceal Bleeding in Egyptian Patients With Non-Cirrhotic Portal Hypertension

Background & Aims: Non-cirrhotic portal hypertension (NCPH) represents a relatively infrequent group of conditions. This work aimed at determining causes of NCPH and evaluating the role of some clinical, laboratory, imaging and endoscopic parameters in prediction of variceal bleeding in an Egyptian cohort with NCPH. Methods: Sixty patients with non-cirrhotic portal hypertension and oesophageal varices were included. All underwent complete clinical evaluation, laboratory investigations, Color Doppler ultrasonography, platelet count/spleen diameter (mm) ratio and upper gastrointestinal endoscopy. Patients were classified into two groups according to variceal bleeding: (1) Group I: twenty six patients with history of bleeding or had an attack of bleeding during one year follow-up; and (2) Group II: thirty four patients without bleeding.

NCT02635815 Portal Hypertension Procedure: Upper gastrointestinal endoscopy
MeSH: Hypertension, Portal Hypertension
HPO: Hypertension Portal hypertension

It was done only for patients with Budd-Chiari syndrome and extrahepatic portal vein thrombosis: anticardiolipin antibodies, lupus anticoagulant, antinuclear antibodies, protein C, S, antithrombin III, factor V Leiden G1691A mutation, prothrombin gene G20210A mutation, methylene tetrahydrofolate reductase C677T mutation by PCR, Janus tyrosine kinase-2 (JAK II) V617F mutation by PCR (to exclude myeloproliferative disorders) and flow cytometry for CD55 and CD59 (to exclude paroxysmal nocturnal hemoglobinuria); (4) Abdominal ultrasonography: for liver size, echogenicity, spleen size, portal vein diameter and ascites; (5) Color Doppler ultrasonographic study: was done in the morning after an overnight fasting using a color Doppler unit with a 3.5 MHz convex probe for confirmation of portal vein (PV) patency and diameter, mean PV flow velocity (mean PVV) (cm/sec), PV direction of flow, splenic vein patency and diameter, presence of portosystemic collaterals and patency of hepatic veins; (6) Platelet count/spleen diameter ratio: calculated as: platelet count/ maximum spleen bipolar diameter by ultrasound in mm; (7) Ultrasonography guided liver biopsy: for diagnosis of NCPH and exclusion of cirrhotic portal hypertension; and (8) Upper gastrointestinal endoscopy using the Pentax video endoscope EG 3440. --- G1691A --- --- G20210A ---

Primary Outcomes

Measure: The presence or absence of variceal bleeding within one year of follow up.

Time: 1 year

35 A Toll-like Receptor Agonist as an Adjuvant to Tumor Associated Antigens (TAA) Mixed With Montanide ISA-51 VG With Bevacizumab for Patients With Recurrent Glioblastoma

This is a phase II study to determine the immunogenicity and efficacy of a vaccine composed of tumor associated long synthetic peptides mixed with Montanide ISA-51 VG administered with polyinosinic-polycytidylic acid - poly-L-lysine carboxymethylcellulose (Poly-ICLC) and bevacizumab in adults with recurrent glioblastoma.

NCT02754362 Glioblastoma Glioma Drug: Bevacizumab Biological: Peptide Vaccine Drug: Poly-ICLC as immune adjuvant Drug: Keyhole limpet hemocyanin (KLH)
MeSH: Glioblastoma
HPO: Glioblastoma multiforme

- Patients must not have a known thrombophilic condition (i.e. protein S, protein C or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocysteinemia or antiphospholipid antibody syndrome). --- G20210A ---

Primary Outcomes

Measure: Assays to determine immunity to the vaccine's antigen

Time: 9 Weeks

Measure: Measure of Humoral Immune Responses measured by ELISA

Time: 9 Weeks

Description: Measured either ex-vivo (assayed directly from thawed PBMCs) or following in-vitro pre-sensitization.

Measure: Antigen specific CD4+ and CD8+ T-cell reactivity to the peptide antigens measured by intracellular cytokine staining

Time: 9 Weeks

Measure: CD4+ and CD8+ T cell reactivity to KLH measured by T cell proliferation quantified by tritiated thymidine incorporation

Time: 9 Weeks

Measure: Measure of Tumor Responses measured by the Response Evaluation Criteria in Solid Tumors (RECIST).

Time: 1 Day

36 A Phase 1 Multi-Center, Dose-Escalation Study of Vonapanitase Administered Percutaneously to the Superficial Femoral or Popliteal Artery in Patients With Peripheral Artery Disease

The research study is designed to assess the technical feasibility and safety of percutaneous administration of vonapanitase to the superficial femoral or popliteal artery in patients with PAD.

NCT02953496 Peripheral Artery Disease Drug: vonapanitase
MeSH: Peripheral Arterial Disease
HPO: Peripheral arterial stenosis

7. Known hypercoagulable state (e.g., protein C deficiency, factor V Leiden mutation, prothrombin G20210A mutation). --- G20210A ---

Primary Outcomes

Description: Safety assessments include physical exams, duplex Doppler ultrasound and routine serum chemistry and hematology tests

Measure: Incidence of adverse events

Time: Up to 6 months following study drug administration

Description: Technical success of study drug administration will be assessed by the extent of circumferential and longitudinal coverage of the artery using a protocol-defined assessment scale

Measure: Technical success of percutaneous injection

Time: Intraprocedural

Other Outcomes

Measure: Peak systolic velocity ratio [PSVR]

Time: 14 days and 6 months following study drug administration

Measure: Minimum lumen diameter [MLD]

Time: 14 days and 6 months following study drug administration

Measure: Rutherford category

Time: 14 and 28 days, and 6 months following study drug administration

Measure: Ankle-brachial index [ABI]

Time: 14 days and 6 months following study drug administration

Measure: 6-minute walk test [6MWT]

Time: 14 days and 6 months following study drug administration

37 A Phase 1, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Dose-Escalation Study of Vonapanitase Administered Following Angioplasty of a Distal Popliteal, Tibial or Peroneal Artery in Patients With Peripheral Artery Disease

The research study is designed to assess the technical feasibility and safety of a perivascular injection of vonapanitase delivered via micro-infusion catheter to the distal popliteal, tibial or peroneal arteries immediately following successful angioplasty.

NCT02956993 Per Peripheral Artery Disease Drug: vonapanitase Drug: Placebo
MeSH: Peripheral Arterial Disease
HPO: Peripheral arterial stenosis

6. Known hypercoagulable state (e.g., protein C deficiency, factor V Leiden, prothrombin G20210A mutation). --- G20210A ---

Primary Outcomes

Description: Safety assessments include physical exams and routine serum chemistry and hematology tests

Measure: Incidence of adverse events

Time: Up to 6 months following study drug administration

Description: Technical success of study drug administration will be assessed by the extent of circumferential and longitudinal coverage of the artery using a protocol-defined assessment scale

Measure: Technical success of perivascular injection

Time: Intraprocedural

Other Outcomes

Measure: Minimum lumen diameter [MLD]

Time: Intraprocedural and 6 months following study drug administration

Measure: Minimum lumen area [MLA]

Time: Intraprocedural and 6 months following study drug administration

Measure: Incidence of arterial occlusion

Time: 14 days and 6 months following study drug administration

Measure: Rutherford category

Time: 14 and 28 days, and 6 months following study drug administration

Measure: Ankle-brachial index [ABI]

Time: 14 days and 6 months following study drug administration

Measure: Vascular Quality of Life Questionnaire-6 [VascuQol-6

Time: 14 days and 6 months following study drug administration

38 Intralipid Related Effect on NKcells in Patients With Unexplained Recurrent Spontaneous Abortions

Evaluating the effect of intralipid on the natural killer cells

NCT03132779 Recurrent Miscarriage Drug: Intralipid
MeSH: Abortion, Spontaneous Abortion, Habitual
HPO: Spontaneous abortion

Exclusion Criteria: - Any other diseases causing miscarriage as autoimmune (lupus erythematosus or antiphospholipid antibodies syndrome )or endocrinopathy (diabetes mellitus, thyroid disorders and hyperprolactinaemia)or thrombophilia (factor v leiden mutation, protein c or s deficiency, prothrombin G20210A mutation, antithrombin III deficiency ) or abnormal karyotyping to one or both of parents or previous history of hormonal contraception or intrauterine device usage at last 3 months or any contraindications for intralipid usage. --- G20210A ---

Primary Outcomes

Description: NK cells is measured before and after injection of intralipid and is noticed for change in activity

Measure: Change in NK cells activity after injection of intralipid

Time: One week

39 Downstream Molecular Signals of P2Y12 Receptors in Hyporeactive Patients Under Clopidogrel Treatment (A Possible Mechanism of HOTPR:High On- Treatment Platelet Reactivity)

The investigators designed the following experiment to observe the pattern of administration in vitro, which can be completely excluded liver enzyme cytochrome P450 metabolism under the influence and observe the relevant P2Y12 receptor downstream signal changes, hope in the above experiments, that the human body directly for the difference between the existence of drug reactions exist.

NCT03190005 Stable Angina Drug: clopidogrel Drug: Placebos
MeSH: Angina, Stable

The investigators ran a previous related plan within 2014 under the medical study project budget of the Taipei City hospital, which named "platelet reactivity as a post-percutaneous coronary stent implantation antiplatelet adjust the reference", it has been figured that responsibility under the P2Y12 receptor inhibitors were significantly different between the taiwanese and Caucasians (taiwanese revealed clopidogrel lower responsive, but stronger reaction to ticagrelor), although "low" response to clopidogrel between taiwanese (In fact, according to our experiments, 30 days after medication, the rate of HOTPR-High On- Treatment Platelet Reactivity; namely PRU≥208, the taiwanese and Caucasians are very close to each), but it has relative lower subacute stent thrombosis rate than the Caucasian at 30 days(This reaction is also known as the "Asian paradox" ), according to literature known abroad because of the high prevalence of CYP2C19 point gene deletion rate among the Asians (compare with Caucasians: ~ 65% vs ~ 30%); there also suggested other possible explanations: Caucasian factor V Leiden (G1691A) and prothrombin (G20210A) a higher proportion of mutations, on hemostatic factors (fibrinogen, d-dimer, and factor VIII) and plasma endothelial activation markers (such as von Willebrand factor, intercellular adhesion molecule 1, and E-selectin) existed differences between the races; in addition, a number of different indicators of inflammation, such as CRP. --- G1691A --- --- G20210A ---

Primary Outcomes

Description: PRU(Platelet Rreactivity Unit) 24 hours after DAPT(Dual AntiPlatelet Therapy) Western blot after medication

Measure: PRU(Platelet Rreactivity Unit) 24 Hours After DAPT(Dual AntiPlatelet Therapy) Western Blot After Medication

Time: 24 hours

40 Risk of Venous Thromboembolism in First Degree Relatives of Women With or Without Venous Thromboembolism During Hormonal Exposure

Young women have an increased risk of venous thromboembolism (VTE) during hormonale exposure (estrogen-containing pill or pregnancy). In order to detect women at higher risk of VTE during hormonal exposure, thrombophilia testing is often performed in order to adapt contraception methods and/or to increases thromboprophylaxy during pregnancy. However, such practice is probably not accurate nor discriminent. Indeed, there are evidence that the impact of the familial history of VTE might be stronger than that of detectable inherited thrombophilia. The "FIT-H" study is a cross-sectional study comparing the prevalence of previous venous thromboembolism in first-degree relatives of women (propositi) who had a first episode of venous thromboembolism in association with hormonal exposure with the prevalence of previous venous thromboembolism in first-degree relatives of women who did not have venous thromboembolism during a similar hormonal exposure. The primary objective is to determine the association between the presence or the absence of VTE in young women during hormonal exposure and the presence or the absence of a previous episode of VTE in their first-degree relatives. Secondary objective is to determine the impact of associated inherited thrombophilia on the risk of VTE in first-degree relatives.

NCT03206372 Venous Thromboembolic Disease Other: Case group Other: Control group
MeSH: Thromboembolism Venous Thromboembolism
HPO: Thromboembolism

- Secondary objectives: - To determine if this there is an influence of a detectable inherited minor thrombophilia (factor V Leiden, G20210A prothrombin variant) on the risk of VTE in first-degree relatives - To determine if this there is an influence of a detectable inherited major thrombophilia (protein, S or antithrombin deficiency) on the risk of VTE in first-degree relatives - To determine the impact of the clinical characteristics of VTE in their first-degree relatives (age, dead or alive at the time of inclusion) - To determine the impact of clinical characteristic of VTE in the propositus (age, PE vs DVT, severity of VTE, type of hormonal exposure) on the risk of VTE in the first-degree relatives. --- G20210A ---

Primary Outcomes

Description: The primary outcome measure is defined by the presence of symptomatic venous thromboembolic disease in first degree relatives based on: objective, validated and standardized criteria or a validated and standardized questionnaire and leg ultrasound according to a validated algorithm

Measure: Presence of venous thromboembolic disease in first-degree relatives.

Time: 1 day

41 The Role of Prothrombin Gene and Methylenetetrahydrofolate Reductase(MTHFR) Gene Polymorphisms as Risk Factors for Recurrent Miscarriage

Recurrent miscarriage is a pregnancy loss before 20 weeks of gestation. The recurrent pregnancy loss(RPL) usually occurring in the first trimester of gestation and its rate is quite high (15-20% even in full reproductive period) . In 2012, the American Society for Reproductive Medicine Practice Committee issued a statement that defined recurrent pregnancy loss as a disease distinct from infertility defined by two or more failed consecutive pregnancies.approximately 40% of couples will have an etiology identified that could be associated with their loss.

NCT03209063 Recurrent Miscarriage Diagnostic Test: polymerase chain reaction
MeSH: Abortion, Spontaneous Abortion, Habitual
HPO: Spontaneous abortion

40% of couples will have an etiology identified that could be associated with their loss.Thrombophilia is the tendency to develop thromboses due to inherited defects in the coagulation system.Thrombophilia was identified as a major cause of RPL,Because pregnancy is a hypercoagulable state, thromboembolism is the leading cause of antepartum and postpartum maternal mortality .The four most common genetic markers for thrombophilia are; prothrombin gene mutation(FII, G20210A), methylene tetra hydrofolate reductase mutations (MTHFR ,C677T and A1298C), factor V Leiden (FVL, G1691A) , and plasminogen activator inhibitor 1 (PAI-1) . --- G20210A ---

Prothrombin G20210A refers to a human gene mutation that increases the risk of blood clots . --- G20210A ---

Study was conducted to evaluate the frequency of PT20210 among healthy Egyptians, (1.06%) had PT20210 G-A mutation.The variant causes elevated plasma prothrombin levels (hyperprothrombinemia), Prothrombin is the precursor to thrombin, which plays a key role in causing blood to clot (blood coagulation).Prothrombin G20210A can thus contribute to a state of hypercoagulability . --- G20210A ---

Primary Outcomes

Description: using polymerase chain reaction Polymerase chain reaction

Measure: The study will compare the percentage of prothrombin gene and MTHFR gene polymorphisms in cases with recurrent miscarriage and healthy control group.

Time: 2 days

42 STUDY OF THE ADAMTS-13 LEVEL AS PREDICTIVE BIOMARKER FOR DEVELOPMENT OF PORTAL VEIN THROMBOSIS IN LIVER CIRRHOSIS

Patients with cirrhosis of viral etiology (HCV/HBV); Patients with cirrhosis of any other etiology (alcohol, idiopatic, autoimmune). Planned Number of cirrhotic subjects 200 patients Inclusion Criteria Subjects (18 yr old) with liver cirrhosis of any etiology, Exclusion Criteria All patients should not have hepatocellular carcinoma or other malignant tumors, they should not be treated with anticoagulant / antiplatelet agents, not affected by PVT already diagnosed and not suffering from congenital coagulation disorders (haemophilia A / B, von disease Willebrand, another congenital deficiency of coagulation factors) or severe thrombocytopenia (<30,000 Plt / μL). Subject has participated in another clinical study within 30 days prior to study enrollment or is scheduled to participate in another clinical study on cirrhosis Primary Objective To describe the prospective modification of ADAMTS-13 level and other coagulation variables (e.g. FVIII, VWF:Ag/VWF:act) in cirrhotic patients during 18 months from the enrolment and to verify their predictive role as biomarker of development of portal vein thrombosis (PVT) Secondary Objectives To describe prospectively the modification of ADAMTS-13 level as a function of the etiology of cirrhosis Statistical analysis The total duration of the study will be of 12 months. The sample size of 200 subjects will be selected as a feasible number of patients to be recruited in a period of six months. The patients will be consecutively enrolled and followed for 18 months. As a result, in a follow up period of 18 months about 20-25 cases of PVT are expected. Continuous variables will be expressed as means ± standard deviations. In addition to descriptive statistics (location parameters), univariate analysis will be performed on each parameter and development of PVT during the follow up period. In previous observational studies both 1) a reduced PV flow [prospectively] and 2) a reduction of ADAMTS-13 are significantly associated with PVT. These associations will be investigated prospectively and analyzed simultaneously by a multivariate analysis and ROC curve to establish the sensitivity and specificity of these parameters as predictors of PVT development. Analyses will be performed using available data

NCT03322696 C23.550.355 C14.907.355.830.925 C15.378.140.855.925
MeSH: Liver Cirrhosis Thrombosis Venous Thrombosis
HPO: Cirrhosis Deep venous thrombosis Hepatic fibrosis Venous thrombosis

FV Leiden R506Q and prothrombin G20210A genotyping of these polymorphisms was performed by using commercial kits based on PCR-RT-based method (from EliTechGroup S.p.A., Torino, Italy) on an automatic instrument (Model 7300, Applied Biosystem, Foster City, CA, USA). --- R506Q --- --- G20210A ---

Primary Outcomes

Description: Primary Endpoint To describe in a prospective way the association of both basal ADAMTS-13 level and portal vein flow with development of PVT in cirrhotic patients during 18 months from the enrolment. Measurement of ADAMTS-13 activity. ADAMTS-13 activity was measured in citrated plasma samples by a fluorescence resonance energy transfer (FRET)-based assay,

Measure: Association of portal vein thrombosis with ADAMTS13 activity

Time: 18 months

Secondary Outcomes

Description: The secondary objectives of analyzing the levels of ADAMTS-13 and VWF as a function of the etiology of cirrhosis will be further assessed only after a certified diagnosis of the particular etiologic of cirrhosis. In the case of HCV-associated cirrhosis also the genotype of HCV will be analyzed.

Measure: Analysis of ADAMTS-13 and VWF levels as a function of the etiology of cirrhosis.

Time: 18 months

43 Prediction of Recurrent Pregnancy Loss by a New Thrombophilia Based Genetic Risk Score

Recurrent pregnancy loss (RPL) is a clinical problem affecting 1-5% of couples of reproductive age. The contribution of thrombophilia to RPL is disputed. This controversy is partly due to low sensitivity of the genetic variants currently used to evaluate hereditary thrombophilia: the Leiden mutation (identified as rs6025) in the coagulation factor 5 (F5L) gene and mutation G20210A (identified as rs1799963) in the prothrombin (PT) gene. Our objective was to determine whether a wider algorithm that includes clinic and genetic variants associated with thrombophilia could be more useful in the prediction for RPL than FVL and PT alone.

NCT03336463 Miscarriage, Recurrent
MeSH: Abortion, Spontaneous Abortion, Habitual Thrombophilia
HPO: Hypercoagulability Spontaneous abortion

This controversy is partly due to low sensitivity of the genetic variants currently used to evaluate hereditary thrombophilia: the Leiden mutation (identified as rs6025) in the coagulation factor 5 (F5L) gene and mutation G20210A (identified as rs1799963) in the prothrombin (PT) gene. --- G20210A ---

This study hypothesize that the use of the Thrombo inCode® in the screening for hereditary thrombophilia in patients with recurrent pregnancy loss can improve the diagnostic sensitivity and predictive capacity of the routine genetic panel, based on FVL and G20210A PT. --- G20210A ---

The results produced from a single genetic analysis will allow comparison to the centres' routine protocol (FV Leiden and G20210A PT) with the complete Thrombo inCode® panel, that also includes the previously-mentioned classical variants. --- G20210A ---

Primary Outcomes

Description: Repeated clinical pregnancy loss and/or foetal death (≥ 2 consecutive or ≥ 3 non-consecutive) before the 20th weeks of pregnancy

Measure: Recurrent Pregnancy Loss

Time: 20 weeks

Description: Pregnancy with life-birth

Measure: Pregnancy at term

Time: 20 weeks

44 Influence of ABO Blood Group on the Risk of Complications in Alcoholic or Viral C Cirrhosis? Analysis From Two French Prospectives National Cohorts CIRRAL and CIRVIR of Patients With Alcoholic or Viral Cirrhosis Child Pugh A

The non-O blood group is a risk factor of deep vein thrombosis and recurrence of thromboembolic events, especially when associated with Factor 5 Leiden or prothrombin G20210A mutations. A recent study suggests that non-O blood group may promote portal vein thrombosis in non cirrhotic patients. In addition, in general population and chronic hepatitis C, non-O blood group combined with one or the other of the above genetic abnormalities is associated with an increased risk of liver fibrosis and accelerated fibrogenesis. The suspected mechanism could be an increased procoagulant factor VIII and an increased Willebrand plasma level, due to a low ADAMTS 13 activity, the result of which is an hypercoagulable state and a microthrombotic process. In cirrhotic patients procoagulant factors and ADAMTS 13 which are respectively increased and decreased, have be shown to be prognostic markers of hepatocellular function and portal hypertension. It has been hypothesized that the hypercoagulable state and the microthrombotic process could contribute to the worsening of the disease and enoxaparin has been shown to positively modify the prognosis of cirrhosis. The role of non-O blood group in decompensation of cirrhosis and occurrence of complications including non-tumor portal vein thrombosis has never been studied. The investigators plan a longitudinal observational study to determine the incidence of complications in alcoholic and viral cirrhosis in case of non-O blood group compared to O blood group. The aim of this study is to determine whether ABO blood group may promote complications in alcoholic or viral cirrhosis. This is an ancillary study of two national cohorts assessing natural history and hepatocellular carcinoma risk factors in alcoholic (CIRRAL) and viral (CIRVIR) cirrhosis.

NCT03342170 Alcoholic or Viral C Compensated Cirrhosis Genetic: G20210A prothrombin gene mutation and Factor 5 Leiden mutation
MeSH: Liver Cirrhosis Fibrosis
HPO: Cirrhosis Hepatic fibrosis

The non-O blood group is a risk factor of deep vein thrombosis and recurrence of thromboembolic events, especially when associated with Factor 5 Leiden or prothrombin G20210A mutations. --- G20210A ---

Primary Outcomes

Description: patient follow up during 3 years

Measure: cumulated incidence of complications at 3 years

Time: from inclusion to 3 years

45 Dental Health in Recurrent Miscarriage

Oral infections can trigger the production of pro-inflammatory mediators that may be risk factors for miscarriage. The investigators investigated whether oral health care patterns that may promote or alleviate oral inflammation were associated with the history of miscarriage in Turkish women.

NCT03577314 Oral Health Miscarriage Other: miscarriage
MeSH: Abortion, Spontaneous Abortion, Habitual
HPO: Spontaneous abortion

At least 8 weeks after termination of pregnancy, karyotype analysis of both couples and thrombophilia panel ( Factor V Leiden, prothrombin gene mutation G20210A, protein S/Protein C/antithrombin deficiency and MTHFR mutations) in the study group will be requested.. Dental Examination. --- G20210A ---

Primary Outcomes

Description: If abortion material is obtainable, it will be genetically evaluated for chromosomal abnormalities. At least 8 weeks after termination of pregnancy, karyotype analysis of both couples and thrombophilia panel ( Factor V Leiden, prothrombin gene mutation G20210A, protein S/Protein C/antithrombin deficiency and MTHFR mutations) in the study group will be requested.

Measure: recurrent miscarriage

Time: below 20th week of pregnancy

Secondary Outcomes

Description: All teeth were visually using the International Caries Detection and Assessment System (ICDAS-II). The chosen sites were recorded as: 0 = sound; = first visible sign of noncavitated lesion seen only when the tooth is dried; = visible noncavitated lesion seen when wet and dry; = microcavitation in enamel; = noncavitated lesion extending into dentine seen as an undermining shadow; = small cavitated lesion with visible dentine: less than 50% of surface; = large cavitated lesions with visible dentine in more than 50% of the surface.

Measure: Dental Examination

Time: 1 Day

Description: A single calibrated examiner measured probing depth-PD, 0: healthy bleeding calculus 3:3.5-5.5 mm 4: over 5.5 mm

Measure: Periodontal Examination

Time: 1 Day

Description: A single calibrated examiner measured clinical attachment level- CAL, 0: 0-3 mm 1:4-5 mm 2:6-8 mm 3:over 8mm 4: 9-11 mm 5: over 12 mm

Measure: Clinical attachment level

Time: 1 Day

Description: A single calibrated examiner measured plaque (Pl) 0:no plaque A film of plaque soft deposit s within the gingival pocket Abundance of soft matter within the gingival pocket

Measure: Plaque Examination

Time: 1 Day

Description: A single calibrated examiner measured gingival indices (GI) 0= Normal gingiva; Mild inflammation Moderate inflammation Severe inflammation

Measure: Gingival Examination

Time: 1 Day

Description: A single calibrated examiner measured bleeding on probing (BOP) 0: no bleeding 1: bleeding

Measure: Bleeding Examination

Time: 1 Day

46 APIDULCIS: Extended Anticoagulation With Low-dose Apixaban After a Standard Course Anticoagulation in Patients With a First Venous Thromboembolism Who Have Positive D-dimer

The study aims at optimizing the long-term and extended management of patients with a first episode of venous thromboembolism (proximal deep vein thrombosis with or without pulmonary embolism) (VTE). Patients at high risk of recurrence (with altered D-dimer test), who had received anticoagulation (whatever the drug used) for 12-15 months after the first episode of thrombosis, will be treated with Apixaban 2,5 mg x 2 for 18 months as extended treatment. Patients at low risk, with normal D-dimer test, will stop anticoagulation definitely.

NCT03678506 Venous Thromboembolism Anticoagulants Drug: Apixaban
MeSH: Thromboembolism Venous Thromboembolism
HPO: Thromboembolism

inflammatory bowel disease) - Known serious thrombophilic alterations: - deficiencies of natural anticoagulants (Antithrombin, Protein C, Protein S) - homozygosity for Factor V Leiden or Factor II G20210A mutations - double heterozygosity - Presence of antiphospholipid syndrome - Presence of vein cava filter - Concomitant conditions (such as atrial fibrillation) requiring indefinite anticoagulation - Severe cardio-respiratory insufficiency (NYHA 3 or 4) - Any absolute contraindications to anticoagulation treatment - Any other contraindications to Apixaban as per local SmPC - Life expectancy shorter than 1 year - Refuse interruption of anticoagulation to perform serial D-dimer assessment - Geographically inaccessible location - Inability or refusal to give consent Inclusion Criteria: - First unprovoked Venous Thromboembolic Event - Venous Thromboembolic events associated with one or more risk factors that are no longer present - Age older than 18 or younger than 75 years - Capacity to give written informed consent Exclusion Criteria: - A) Exclusion criteria regarding the index event - Events usually associated with low risk of recurrence - Deep vein thrombosis/ Pulmonary embolism occurred within 3 months from major surgery or major trauma - Isolated Distal deep vein thrombosis (thrombosis of calf veins) - Events associated with a very high risk of recurrence or occurrence of life-threatening recurrent events - Pulmonary Embolism episode with shock or life-threatening - Isolated pulmonary embolism with a systolic pulmonary artery pressure > 60 mmHg at presentation - Deep vein thrombosis/ Pulmonary embolism associated with active cancer, antiphospholipid syndrome or long-standing medical illnesses - More than one idiopathic event - Index venous thromboembolic event in different sites than deep veins of the lower limbs or pulmonary arteries B) Exclusion criteria present at the moment of patients' screening: - Age younger than 18 or older than 75 years - More documented unprovoked venous thromboembolic episodes - Pregnancy or puerperium - Severe post-thrombotic syndrome (≥ 15 points at the Villalta score) - Solid neoplasia or blood disease in active phase or requiring chemotherapy/radiotherapy - All the clinical conditions requiring prolonged treatment with Low Molecular Weight Heparin - Presence of overt, active chronic diseases (i.e. --- G20210A ---

inflammatory bowel disease) - Known serious thrombophilic alterations: - deficiencies of natural anticoagulants (Antithrombin, Protein C, Protein S) - homozygosity for Factor V Leiden or Factor II G20210A mutations - double heterozygosity - Presence of antiphospholipid syndrome - Presence of vein cava filter - Concomitant conditions (such as atrial fibrillation) requiring indefinite anticoagulation - Severe cardio-respiratory insufficiency (NYHA 3 or 4) - Any absolute contraindications to anticoagulation treatment - Any other contraindications to Apixaban as per local SmPC - Life expectancy shorter than 1 year - Refuse interruption of anticoagulation to perform serial D-dimer assessment - Geographically inaccessible location - Inability or refusal to give consent Venous Thromboembolism Anticoagulants Thromboembolism Venous Thromboembolism This prospective cohort study aims to assess the efficacy and safety of a management procedure to decide on giving or not an extended anticoagulation (administering apixaban 2 2.5 mg twice daily ) to outpatients with a single episode of proximal deep vein thrombosis of the lower limbs and/or pulmonary embolism who had received 12-15 months of anticoagulation (whatever the anticoagulant drug used). --- G20210A ---

Primary Outcomes

Description: The occurrence of proximal deep vein thrombosis with or without pulmonary embolism (new or recurrent episode) wil be recorded in all patients

Measure: Number and rate of patients with confirmed recurrent VTE and VTE-related death (efficacy).

Time: From date of enrollment until the date of first documented event assessed up to 18 months

Description: Fatal bleeding; intracranial; intraspinal; intraocular; pericardial; intra-articular; intramuscular with compartment syndrome; retroperitoneal,; acute clinically overt bleeding will be recorded in all patients

Measure: Number and rate of major Bleeding events (defined according to International Society on Thrombosis and Haemostasis guidelines (safety)

Time: From date of enrollment until the date of first documented event assessed up to18 months

Secondary Outcomes

Description: Transient ischemic attack (TIA), Stroke, Myocardial infarction will be recorded in all patients

Measure: Number of and rate of thromboembolic events

Time: From date of enrollment until the date of first documented event assessed up to 18 months

Description: Patient with deep vein thrombosis as index event will be evaluated, at the and of follow-up, applying Villalta score, commonly used to diagnose post-thrombotic syndrome in the subacute phase of thrombosis. The presence of venous ulcer of the leg or a score > of 15 points indicate the occurrence of severe post-thrombotic syndrome. The maximum score is 33. The score from 5 to 9 points indicate mild post-thrombotic syndrome and from 10 to 15 points indicate moderate post-thrombotic syndrome

Measure: Presence of severe post-thrombotic syndrome according to Villalta Score

Time: 18 months

Description: In all patients will be recorded any sign or symptom of hemorrhage that does not fit the criteria for the definition of major bleeding but does meet at least one of the following criteria: 1)requiring medical intervention by a healthcare professional; 2) leading to hospitalization or increased level of care;3) prompting a face to face evaluation

Measure: Number and rate of non major bleeding complications

Time: From date of enrollment until the date of first documented event assessed up to18 months

Description: VTE-related death; cardiovascular related-death; bleeding-related death; death for: cancer, infectious disease and unknown cause; sudden death will be recorded in all patients

Measure: Number and rate of dead patients (overall mortality)

Time: From date of enrollment until the date of first documented event assessed up to 18 months

47 Phase I Study Evaluating Safety and Feasibility of Hematopoietic Stem Cell Gene Transfer That Targets Factor VIII Delivery From Platelets for Patients With Hemophilia A

This is a Phase I study. This research study is being conducted to find new ways to treat severe hemophilia A. This study is a gene therapy study. Gene therapy is an experimental way to introduce, into a person's cells, specific genetic material. A gene can be delivered/introduced into a cell using a carrier known as a "vector." In this study, a virus (lentivirus), the "vector", is used to introduce or deliver a gene that creates and stores a protein Factor VIII (FVIII) in your platelets. These platelets are made from stem cells (mother cells for your bone marrow) that are removed from your blood by a procedure called apheresis. This research study will take some of the patient's own stem cells, from the apheresis procedure, and genetically modify them using the vector in order to make them produce FVIII in platelets that arise from the stem cells. They will then give the genetically modified stem cells back to the patient so that they can possibly create platelets that produce and store Factor VIII on their own.

NCT03818763 Hemophilia A Biological: Auto CD34+PBSC, transduced with a lentiviral vector encoding the B domain deleted from of human coagulation factor VIII
MeSH: Hemophilia A
HPO: Reduced factor VIII activity

Those with a known co-existing clinically significant thrombophilic disorder, or as determined by the presence of any of the below identified on screening laboratory assessments: - FV Leiden - Protein S deficiency - Protein C deficiency - Prothrombin mutation (G20210A) - D-dimer >3 x the upper limit of normal (ULN) at Screening All known patients with the above and any patient with a personal or significant family history of thrombotic events (DVT, PE, arterial clots) as deemed by the principal investigator will be screened for the above disorders. --- G20210A ---

Primary Outcomes

Description: Assessed by availability of ≥4x106 transduced clinical grade CD34+PBSC per kg meeting release criteria for infusion; undetectable microbiological contamination and cell viability ≥70%.

Measure: Number of enrolled participants with adequate gene transduced hematopoietic stem cells for FVIII gene therapy infusion

Time: Through study completion, an average of 4 years

Secondary Outcomes

Description: Number of events meeting CTCAE criteria grade 3 or 4 toxicity

Measure: Incidence of toxicity from gene therapy

Time: Within 3 months of gene therapy infusion

48 A Phase I, Randomized, Double-blind, Placebo-Controlled, Single Ascending Dose Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MG1113 in Healthy Subjects and Hemophilia Patients

The purpose of this study is to assess the safety and tolerability of MG1113 in the single ascending dose study (IV injection or SC injection) in healthy subjects and hemophiia patients.

NCT03855696 Hemophilia Biological: MG1113 Other: Placebo of MG1113
MeSH: Hemophilia A
HPO: Reduced factor VIII activity

Any of the following results from laboratory tests: 1) AST (sGOT) or ALT (sGPT) >2 x UNL 2) Hb < 9.0 g/dL 3) Absolute Neutrophil Count < 1500 mm2 4) Platelet count < 100 x 103 mm2 5) aPTT, PT > 1.5 x UNL 6) Have hepatitis B (HBsAg positive) or C (anti-HCV positive), or have positive HIV test result 7) Creatinine clearance ≤80 mL/min (calculated by the Cockcroft-Gault formula) 7. Have a family history or be considered to be at risk of thromboembolic events, or have the following test results: 1) Antithrombin level ≤LNL 2) Protein C or S activity ≤LNL 3) Factor V Leiden mutation 4) Prothrombin G20210A mutation 8. Used ethical drugs including prescription drugs within 14 days of investigational product administration 9. Used drugs (over-the-counter drugs, herbal medicines, and nutritional agents and vitamins for the purpose of same efficacy) within 7 days of investigational product administration 10. --- G20210A ---

Primary Outcomes

Description: Adverse events such as subjective and objective symptoms

Measure: Adverse events

Time: Through study completion (~50 day)

Secondary Outcomes

Description: ADA [Anti-Drug Ab]

Measure: Immunogenicity assay

Time: Through study completion (~50 day)

Description: Cmax

Measure: Pharmacokinetic assessment - Cmax

Time: Through study completion (~50 day)

Description: Tmax

Measure: Pharmacokinetic assessment - Tmax

Time: Through study completion (~50 day)

Description: AUClast

Measure: Pharmacokinetic assessment - AUClast

Time: Through study completion (~50 day)

Description: AUCinf

Measure: Pharmacokinetic assessment - AUCinf

Time: Through study completion (~50 day)

Description: half-life

Measure: Pharmacokinetic assessment - half-life

Time: Through study completion (~50 day)

Description: CL/F (for SC)

Measure: Pharmacokinetic assessment - CL/F (for SC)

Time: Through study completion (~50 day)

Description: CL (for IV)

Measure: Pharmacokinetic assessment - CL (for IV)

Time: Through study completion (~50 day)

Description: Vd/F (for SC)

Measure: Pharmacokinetic assessment - Vd/F (for SC)

Time: Through study completion (~50 day)

Description: Vd (for IV)

Measure: Pharmacokinetic assessment - Vd (for IV)

Time: Through study completion (~50 day)

Description: Bioavailability (F) Bioavailability (F) = AUCinf (at SC dosing [3.3 mg/kg])/AUCinf (at IV dosing [3.3 mg/kg])

Measure: Pharmacokinetic assessment - Bioavailability (F)

Time: Through study completion (~50 day)

Description: Free TFPI in plasma (ng/mL)

Measure: Pharmacodynamic assessment - Free TFPI in plasma

Time: Through study completion (~50 day)

Description: Diluted PT (sec)

Measure: Pharmacodynamic assessment - Diluted PT

Time: Through study completion (~50 day)

Description: FXa activity

Measure: Pharmacodynamic assessment - FXa activity

Time: Through study completion (~50 day)

Description: Thrombin generation (lag time, peak generation, Endogenous thrombin generation potential [ETP])

Measure: Pharmacodynamic assessment - Thrombin generation

Time: Through study completion (~50 day)

Description: Pro-coagulant effect (D-dimer, Fibrinogen, prothrombin fragments 1+2)

Measure: Pharmacodynamic assessment - Pro-coagulant effect

Time: Through study completion (~50 day)

Description: Physical examination

Measure: Physical examination

Time: Through study completion (~50 day)

Description: The result for 12-lead ECG will be reported as Clinical Significant or Not-Clinical Significant. Ventricular rate in beat/min Interval for PR in msec QRS in msec QTc in msec

Measure: Incidence of participant abnormalities in 12-lead ECG (Ventricular rate in beat/min, Interval for PR in msec, QRS in msec, QTc in msec) for physiological parameter

Time: Through study completion (~50 day)

Description: Vital signs - blood pressure (Systolic, Diastolic)

Measure: Vital signs - blood pressure (Systolic, Diastolic)

Time: Through study completion (~50 day)

Description: Vital signs - pulse rate

Measure: Vital signs - pulse rate

Time: Through study completion (~50 day)

Description: Vital signs - body temperature

Measure: Vital signs - body temperature

Time: Through study completion (~50 day)

Description: Bleeding evaluation (only for hemophilia patients) by questionnaire; Occurrence date, Persistence in yes or no questionnaire, Causes (blood in naturally occurring/Traumatic bleeding), Severity (mild/moderate/Severe)

Measure: Frequency of Bleeding (only for hemophilia patients)

Time: Through study completion (~50 day)

Description: Pain or tenderness, itching, rash, redness (in mm), and induration (in mm) will be reported. Local stimulation test in injection site: Occurrence date, Persistence, Causes, Severity (mild/moderate/Severe) The occurrence of pain or tenderness, itching and rash will be reported by Yes or No questionnaire. The size of redness and induration will be measured in millmeters(mm).

Measure: Local reaction in injection site

Time: Through study completion (~50 day)

Description: Parameters for laboratory tests include Hematology(WBC in 10**3/mcL, Neutrophils in %, ANC in mcL, Lymphosyte in %, Monocyte in %, Eosinophils in %, Basophils in %, RBC in 10**6/mcL, Hemoglobin in g/dL, Hematocrit in %, MCV in fL, MCHin pg, MCHC in g/dL, Plstelets in 10**3/mcL, MPV in fL), Clinical chemistry(Glucose in mg/dL, BUN in mg/dL, Uric adic in mg/dL, Total cholesterol in mg/dL, Triglyceride in mg/dL, Protein, Albumin in g/dL, Total bilirubin in mg/dL, Alkaline phosphatase in IU/L, AST in IU/L, ALT in IU/L, r-GT in IU/L, LDH in IU/L, Serum creatinine in mg/dL, Na in mmol/L, K in mmol/L, Cl in mmol/L, CPK in IU/L, Troponin I in ng/mL, Troponin T in ng/mL), Urinalysis(These values are reported only as a number; Specific garavity, Color, pH, Protein, Glucose, Ketone, Bilirubin, Blood, Urobilinogen, Nitrite, WBC, Squma EP cell, Casts, Crystal, Clarity, RBC) Blood coagulation test (aPTT in sec, PT in sec, Fibronogen in mg/dL, Antithrombon III in %, Protein C in %, Protein S in %)

Measure: Incidence of participant abnormalities in laboratory tests by physiological parameter (Hematology, clinical chemistry, urinalysis, and blood)

Time: Through study completion (~50 day)

49 Retrospective Study of the Prevalence of Antiphospholipid Antibodies in the Population of Hemodialysis Patients at the CHU Brugmann Hospital

In patients with a chronic renal disease at the terminal stage, extrarenal epuration is essential for the control of clinico-biological complications. Two extrarenal epuration techniques are currently available: peritoneal dialysis (using the peritoneal membrane of the patient) and hemodialysis, requiring the use of an external biocompatible membrane known as 'dialysis filter'. This technique requires a vascular access (arteriovenous fistula or dialysis catheter). The thrombosis of vascular accesses represents a major cause of morbidity and mortality in hemodialysis patients. Thrombosis are more frequent when using synthetic prosthetic arteriovenous fistula instead of native arteriovenous fistula. Antiphospholipid Syndrome (APLS) is a rare autoimmune disease characterized by arterial thrombosis, venous thrombosis and obstetrical complications such as as defined by the Sidney's criteria. In the general population, the presence of antiphospholipid antibodies is associated with an increased risk of thromboembolic events. In the nephrological population, this prevalence is higher in hemodialysis patients compared to patients on peritoneal dialysis or non-dialyzed patients. Up to 37% of hemodialysis patients are positive for antiphospholipid antibodies and this biology is associated with thrombotic events and vascular access thromboses. However, some studies do not report this association and there is currently no consensus in terms of the therapeutic management of these patients. Some factors influencing the positivity for antiphospholipid antibodies have been reported: smoking, age, the presence of a non-glomerular nephropathy, hypoalbuminaemia, the use of a central venous catheter for dialysis or the use of a non-biocompatible dialysis membrane. Taking into account the conflicting data from the literature, it seems important to study the respective role(s) of 3 types of antiphospholipid antibodies in the occurrence of thrombo- embolic events in patients undergoing dialysis within the CHU Brugmann Hospital.

NCT03893357 Antiphospholipid Syndrome Other: Data extraction from medical files
MeSH: Antiphospholipid Syndrome

Inclusion Criteria: - All patients undergoing dialysis within the CHU Brugmann Hospital Exclusion Criteria: - Mutation of factor V - Mutation G20210A of the prothrombin gene - Protein C deficiency - Protein S deficiency - Antithrombin III deficiency Inclusion Criteria: - All patients undergoing dialysis within the CHU Brugmann Hospital Exclusion Criteria: - Mutation of factor V - Mutation G20210A of the prothrombin gene - Protein C deficiency - Protein S deficiency - Antithrombin III deficiency Antiphospholipid Syndrome Antiphospholipid Syndrome null --- G20210A ---

Inclusion Criteria: - All patients undergoing dialysis within the CHU Brugmann Hospital Exclusion Criteria: - Mutation of factor V - Mutation G20210A of the prothrombin gene - Protein C deficiency - Protein S deficiency - Antithrombin III deficiency Inclusion Criteria: - All patients undergoing dialysis within the CHU Brugmann Hospital Exclusion Criteria: - Mutation of factor V - Mutation G20210A of the prothrombin gene - Protein C deficiency - Protein S deficiency - Antithrombin III deficiency Antiphospholipid Syndrome Antiphospholipid Syndrome null --- G20210A --- --- G20210A ---

Primary Outcomes

Description: Prevalence of antiphospholipid antibodies

Measure: Prevalence of antiphospholipid antibodies

Time: 19 years

Description: Prevalence of arterial thrombosis

Measure: Prevalence of arterial thrombosis

Time: 19 years

Description: Prevalence of venous thrombosis

Measure: Prevalence of venous thrombosis

Time: 19 years

Description: Maturation delay of the arteriovenous fistula

Measure: Maturation delay of the arteriovenous fistula

Time: 19 years

Description: Percentage of thrombosis of the filter

Measure: Percentage of thrombosis of the filter

Time: 19 years

Description: Lifespan of the catheter

Measure: Lifespan of the catheter

Time: 19 years

Description: Lifespan of the fistula

Measure: Lifespan of the fistula

Time: 19 years

Secondary Outcomes

Description: Existence of at least one of the following pro-thrombotic risk factors: smoking, active neoplasia, arterial hypertension.

Measure: Existence of thrombosis risk factors

Time: 19 years

Description: Existence of an anticoagulant treatment Presence of an anticoagulant treatment by means of anti-vitamin K

Measure: Anticoagulant treatment

Time: 19 years

Description: Existence of an antiplatelet treatment

Measure: Antiplatelet treatment Antiplatelet treatment

Time: 19 years

Description: Existence of an antihypertensive treatment

Measure: Antihypertensive treatment

Time: 19 years

Description: Existence of a treatment by means of statins

Measure: Statin treatment

Time: 19 years

Description: Known versus unknown ethiology

Measure: Ethiology of the nephropathy (known/unknown)

Time: 19 years

Description: Glomerular versus non-glomerular ethiology

Measure: Ethiology of the nephropathy (glomerular)

Time: 19 years

Description: Age at dialysis entry

Measure: Age at dialysis entry

Time: 19 years

Description: Catheter versus distal arteriovenous fistula versus proximal arteriovenous fistula

Measure: Vascular access

Time: 19 years

Description: Hemodiafiltration versus conventional hemodialysis

Measure: Type of dialysis

Time: 19 years

Description: With or without heparin

Measure: Type of per-dialytic anticoagulation

Time: 19 years

Description: Brand of dialysis membrane

Measure: Brand of dialysis membrane

Time: 19 years

Description: Urea change percentage

Measure: Urea change percentage

Time: Last available result within 19 years

Description: Coagulation assessment

Measure: Activated partial thromboplastin time (aPTT)

Time: Last available result within 19 years

Description: Hemoglobin count

Measure: Hemoglobin count

Time: Last available result within 19 years

Description: Platelets count

Measure: Platelets count

Time: Last available result within 19 years

50 Markers of Microvascular Lesion in Adult Patients With Acquired Sudden Cochelo-vestibular Deficiency

The roles of thrombophilia and cardiovascular risk factors in sudden sensorineural hearing loss (SSNHL) remain controversial. Cochlear micro-thrombosis has been hypothesized as a possible pathogenic mechanism of SSNHL. The objective was thus to measure the levels of markers of macrovascular thrombosis and microvascular risk factors

NCT03919474 Idiopathic SSNHL Age Over 18 Diagnostic Test: microvascular markers
MeSH: Hearing Loss
HPO: Hearing impairment

Thrombophilia screening included measurements of antithrombin , protein C, protein S, factor V Leiden, prothrombin G20210A, methylene tetrahydrofolate reductase (MTHFR) C677T, antiphospholipid antibodies anticardiolipin IgG and IgM and anti-beta2 glycoprotein 1 IgG), dilute Russell viper venom time , Rosner index, factor VIII, von Willebrand factor (vWF) activity and antigen. --- G20210A ---

Primary Outcomes

Description: plasma serotonin level (HPLC, frequent value <15nM)

Measure: change from Baseline of plasma serotonin at three months

Time: at three months and then once a year up to five years

Description: plasma homocystein (HPLC, fequent value <15 µM)

Measure: change from Baseline of plasma homocystein at three months

Time: at three months and then once a year up to five years

Description: serum anticardiolipin antiboy (ELISA, frequent value <10units)

Measure: change from Baseline serum of anticardiolipine antibody at three months

Time: at three months and then once a year up to five years

Secondary Outcomes

Description: audiogram

Measure: change from Baseline of hearing characteristics at three months

Time: at three months and then once a year up to five years

51 A Randomized, Multicenter, Double-Blind, Placebo Controlled, Phase 2 Study to Evaluate the Efficacy and Safety of IgPro10 (Intravenous Immunoglobulin, Privigen®) for the Treatment of Adults With Systemic Sclerosis

This randomized, multicenter, double-blind (DB), placebo controlled, phase 2 study will evaluate the efficacy and safety of IgPro10. The DB Treatment Period will be followed by a 24-week Open-label (OL) Treatment Period. Eligible subjects will be randomized at Baseline in a 2:1 ratio of treatment IgPro10 or placebo in the DB Treatment Period. All subjects who enter OL Treatment Period will receive IgPro10.

NCT04138485 Diffuse Cutaneous Systemic Sclerosis Biological: IgPro10 Biological: Placebo
MeSH: Scleroderma, Systemic Scleroderma, Diffuse Sclerosis

- History of documented thrombotic episode eg, PE, DVT, myocardial infarction, thromboembolic stroke at any time Note: past superficial thrombophlebitis more than two years from Screening is not exclusionary - Documented thrombophilic abnormalities including blood hyperviscosity, protein S or protein C deficiency, anti-thrombin-3 deficiency, plasminogen deficiency, antiphospholipid syndrome, Factor V Leiden mutation, dysfibrinogenemia, or prothrombin G20210A mutation - Greater than 3 specified current risk factors for TEEs (documented and currents conditions): atrial fibrillation, coronary disease, diabetes mellitus, dyslipidemia, hypertension, obesity (Body Mass Index ≥ 30 kg/m2), recent significant trauma, and immobility (wheelchair-bound or bedridden) - Ongoing active serious infection at Screening (including, but not limited to, pneumonia, bacteremia/septicemia, osteomyelitis/septic arthritis, bacterial meningitis, or visceral abscess) - Malignancy in the past 2 years, except for non-melanoma skin cancer, cervical carcinoma in situ, or other in situ cancer if it has been excised and treated within in the past year - Known hypoalbuminemia, protein-losing enteropathies, and any proteinuria (defined by total urine protein concentration > 0.2 g/L) - Known IgA deficiency or serum IgA level < 5% lower limit of normal Inclusion Criteria: - 1. Age ≥18 years (male or female) at time of providing written informed consent - Documented diagnosis of dcSSc according to ACR / EULAR criteria 2013 - mRSS ≥ 15 and ≤ 45 - Disease duration ≤ 5 years defined as the time from the first non-Raynaud's phenomenon manifestation - Subjects within first 18 months of disease duration from first non-Raynaud's phenomenon manifestation. --- G20210A ---

- History of documented thrombotic episode eg, PE, DVT, myocardial infarction, thromboembolic stroke at any time Note: past superficial thrombophlebitis more than two years from Screening is not exclusionary - Documented thrombophilic abnormalities including blood hyperviscosity, protein S or protein C deficiency, anti-thrombin-3 deficiency, plasminogen deficiency, antiphospholipid syndrome, Factor V Leiden mutation, dysfibrinogenemia, or prothrombin G20210A mutation - Greater than 3 specified current risk factors for TEEs (documented and currents conditions): atrial fibrillation, coronary disease, diabetes mellitus, dyslipidemia, hypertension, obesity (Body Mass Index ≥ 30 kg/m2), recent significant trauma, and immobility (wheelchair-bound or bedridden) - Ongoing active serious infection at Screening (including, but not limited to, pneumonia, bacteremia/septicemia, osteomyelitis/septic arthritis, bacterial meningitis, or visceral abscess) - Malignancy in the past 2 years, except for non-melanoma skin cancer, cervical carcinoma in situ, or other in situ cancer if it has been excised and treated within in the past year - Known hypoalbuminemia, protein-losing enteropathies, and any proteinuria (defined by total urine protein concentration > 0.2 g/L) - Known IgA deficiency or serum IgA level < 5% lower limit of normal Diffuse Cutaneous Systemic Sclerosis Scleroderma, Systemic Scleroderma, Diffuse Sclerosis null --- G20210A ---

Primary Outcomes

Measure: Response on American College of Rheumatology Combined Response Index in Diffuse Systemic Sclerosis (ACR CRISS) score in IgPro10 vs Placebo

Time: Over 48 weeks

Secondary Outcomes

Measure: Proportion of subjects meeting cardiopulmonary or renal failure criteria in ACR CRISS Step 1 events

Time: Over 48 weeks

Measure: Proportion of responders (ACR CRISS > 0.6)

Time: Over 48 weeks

Measure: Mean change from Baseline in Modified Rodnan Skin Score (mRSS)

Time: Baseline and over48 weeks

Measure: Mean change from Baseline in Health Assessment Questionnaire - Disability Index (HAQ-DI)

Time: Baseline and over 48 weeks

Measure: Mean change from Baseline in Forced Vital Capacity (FVC)% predicted

Time: Baseline and over 48 weeks

Measure: Mean change from Baseline in diffusing capacity of lung for carbon monoxide (DLCO)% predicted

Time: Baseline and over 48 weeks

Description: MDGA evaluates the overall impact of SSc on the participant as assessed by the physician on a 11-point Numeric rating scale scale from 0 (excellent) to 10 (extremely poor)

Measure: Mean change from Baseline in Physician Global Assessment (MDGA)

Time: Baseline and over 48 weeks

Description: PGA evaluates the overall impact of SSc on the participant as assessed by the physician on a 11-point Numeric rating scale scale from 0 (excellent) to 10 (extremely poor)

Measure: Mean change from Baseline in Patient Global Assessment (PGA)

Time: Baseline and over 48 weeks

Description: This survey consists of 34 questions and items are scored on a scale of 0 (better health) to 3 (worse health). Scores are combined to form total score.

Measure: Mean change from Baseline in UCLA Scleroderma Clinical Trial Consortium Gastrointestinal Tract 2.0 (UCLA SCTC GIT 2.0) total score and subscale

Time: Baseline and over 48 weeks

Measure: Mean change from Baseline in Scleroderma Skin Patient Reported Outcome (SSPRO) score in IgPro10 vs Placebo

Time: Baseline and up to 48 weeks

Description: Response is decrease of mRSS ≥ 5 points and change of ≥ 25% from Baseline in IgPro10 vs Placebo

Measure: Proportion of responders in mRSS

Time: Up to 48 weeks

Description: Treatment failure - defined as occurrence of SSc associated complications in ACR CRISS step 1 events, digital ischemia (requiring hospitalization for IV prostacyclin, surgical intervention or amputation), serious gastrointestinal events (events requiring parenteral nutrition due to SSc -such as total parenteral nutrition or enteral nutrition), all-cause mortality

Measure: Time to treatment failure (time from first infusion to time of first event) in IgPro10 vs Placebo

Time: Over 48 weeks

Description: Events defined as occurrence of SSc associated complications in ACR CRISS step 1 events, digital ischemia (requiring hospitalization for IV prostacyclin, surgical intervention or amputation), serious gastrointestinal events (events requiring parenteral nutrition due to SSc -such as total parenteral nutrition or enteral nutrition), all -cause mortality

Measure: Proportion of subjects with events at Week 48 in IgPro10 vs Placebo

Time: Over 48 weeks

Measure: Mean change from Baseline in Cochin Hand Function Scale in IgPro10 vs Placebo

Time: Baseline and over 48 weeks

Measure: Mean change from Baseline in Scleroderma Health Assessment Questionnaire (SHAQ) score in IgPro10 vs Placebo

Time: Baseline and over 48 weeks

Measure: Mean change from baseline in muscle strength as measured by Manual Muscle Testing 8 (MMT) in IgPro10 vs Placebo

Time: Baseline and over 48 weeks

Measure: Number of subjects with adverse events (AEs) including any AEs, treatment-emergent AEs (TEAEs), serious AEs (SAEs), and AEs of special interest (AESIs)

Time: Over 48 weeks

Measure: Percentage of subjects with AEs, TEAEs, SAEs, AESIs

Time: Over 48 weeks

Measure: Concentration of serum trough IgG levels at Baseline and prior to first infusion

Time: Baseline and up to 72 weeks

Measure: Mean change from Baseline in Modified Rodnan skin score (mRSS)

Time: Baseline and over 72 weeks

Measure: Mean change from Baseline in Patient global assessment (PGA)

Time: Baseline and over 72 weeks

Measure: Proportion of responders (ACR CRISS > 0.6)

Time: Over 72 weeks

Measure: Mean change from Baseline in Health Assessment Questionnaire - Disability Index (HAQ-DI)

Time: Baseline and over 72 weeks

Measure: Mean change from Baseline in Forced Vital Capacity (FVC)% predicted

Time: Baseline and over 72 weeks

Measure: Mean change from Baseline in diffusing capacity of lung for carbon monoxide (DLCO)% predicted

Time: Baseline and over 72 weeks

Measure: Mean change from Baseline in Physician Global Assessment (MDGA)

Time: Baseline and over 72 weeks

Measure: Number of subjects with adverse events (AEs) including any AEs, treatment-emergent AEs (TEAEs), serious AEs (SAEs), and AEs of special interest (AESIs)

Time: Over 72 weeks

Measure: Percentage of subjects with AEs, TEAEs, SAEs, AESIs

Time: Over 72 weeks


HPO Nodes


Thromboembolism
Genes 17
HABP2 ADA2 F2 CBS FCGR2C SERPINC1 INHBA MTHFR PRKAR1A HRG KCNQ1 MMACHC JAK2 F13A1 EPOR PRDX1 PIGA
Deep venous thrombosis
Genes 17
PROC HABP2 F5 SERPINC1 PMM2 F2 AKT1 SERPIND1 SERPINC1 PIEZO1 PROS1 MTHFR PROC THBD F13A1 PLAT F9
Hypercoagulability
Genes 19
PROC SPTA1 SPTB F5 MYD88 EPB42 SLC4A1 PROS1 AGGF1 HRG PROC GATA2 THBD PLAT ANK1 PROS1 F9 DLD PIGA
Peripheral arterial stenosis
Genes 31
AGXT MPL LDLRAP1 LDLR FBN1 APOE THPO APOB MAT2A ABCG8 MYH11 TGFB2 LMNA ELN FOXE3 ABCC6 SMAD4 JAK2 TGFBR2 MFAP5 ELN SMAD3 MYH11 LOX PCSK9 ACTA2 TGFB3 PRKG1 TGFBR1 MYLK ABCG5
Spontaneous abortion
Genes 70
MTMR14 DNAH9 CCDC103 DNAH11 DNAAF3 LRRC56 LRRC6 GAS8 SERPINC1 CFAP298 SPAG1 CCDC40 ARMC4 F13A1 HOXA13 GAS2L2 CCDC151 XIST MYF6 HTR1A DNAAF2 SYCP3 JAK2 RYR1 CFAP221 ANXA5 DNAAF1 RSPH4A OFD1 NME8 DNAAF4 DNAI2 CCDC65 MPL THPO BIN1 CFAP300 FOXJ1 ALB DNAI1 WRN DNM2 DNAAF6 FGG CCNO DNAH5 CCDC114 RSPH1 CCDC39 STK36 FGA F2 DNAJB13 RPGR MGP TTC25 DNAL1 DNAH1 ZMYND10 RSPH3 RSPH9 FGB SPEF2 DNAAF5 F13B DRC1 GPHN F5 MCIDAS HYDIN
Thrombocytopenia
Genes 409
ERCC6L2 TNFRSF11A MECOM SBDS NIPBL ARPC1B NFKB1 CTC1 JAK2 CASP10 TET2 ATRX TREX1 RFX5 TERT SF3B1 SBDS RASGRP1 NOP10 HYOU1 PRKCD MECOM IRF2BP2 FANCG PEPD TERC ERCC4 WAS PARN GBA TREX1 GUCY1A1 FANCF TNFAIP3 TINF2 NRAS LARS2 RFXAP MMAB IFIH1 ALG8 SLC7A7 HIRA SLC19A2 GP1BA DIAPH1 GP1BA RNASEH2C ANKRD26 TBL1XR1 DHFR FIP1L1 PRF1 HLCS SAMD9 SMPD1 CIITA RBPJ BCOR NPM1 ITK BCR JAK2 SRP54 IFIH1 XPR1 PLAU STX11 SLC46A1 DNASE1 ARVCF NABP1 CALR RAG2 GALC TNFRSF13C SEC24C CFH FANCG ITGA2 FCGR2A COG6 PHGDH TCN2 RUNX1 NUMA1 IFNG GATA1 FLI1 ELANE JMJD1C COMT CA2 HPS5 STAT3 KRAS TUBB1 ATP7B SLC7A7 ITGA2B GFI1B MYSM1 SLC20A2 CORIN VWF MPL FANCA GP1BB POMP GATA1 NHEJ1 TPP2 GBA GBA LRBA FANCB EFL1 RAD51 PRKACG PDGFB C1R MMUT GP1BB RUNX1 FANCD2 USP18 WIPF1 CD81 NOS3 ACAD9 AP3B1 PRF1 GATA2 FANCB FLI1 ADAMTS13 BRCA1 MAP2K1 RTEL1 APOE ITGA2B SPP1 CTLA4 GATA1 BRAF IL7R NPM1 ARHGEF1 MTOR XRCC2 MPL FOXP3 DCLRE1C PSMB8 PSMB4 SP110 FANCC COG4 ACTN1 SLC46A1 FANCL MYORG RREB1 C1QA ESCO2 WRAP53 RNASEH2A BTK DGKE DNAJC21 FAS TINF2 LIG4 ITGB3 CD81 FCGR2C DKC1 OSTM1 PRKCD SAMD9L GP1BA BTNL2 PTPN11 SPATA5 TNFSF12 FLT1 DLL4 ZBTB16 FASLG STIM1 RAD51C STAT5B C3 NHP2 GATA1 PRDX1 G6PC3 GP1BB ARHGAP31 GP1BA SLC35A1 MS4A1 NBEAL2 FASLG ACAD9 NFKB2 FANCD2 KIF15 APOE STOX1 RFWD3 STT3B TERT UROS WIPF1 NOP10 LMBRD1 GBA HLA-B LBR TNFSF11 SLC19A2 NHP2 VWF HOXA11 TBX1 PTPN22 STAT4 PML SCARB2 FANCI GP9 CFB LAT ERBB3 SALL4 PARN NBN TET2 ITGA2 RARA GFI1B MAD2L2 HELLPAR ICOS RFXANK GATA1 TNFSF12 USB1 CFH FAS SMARCAL1 SBDS LYST HOXA11 FANCA STAT1 PCCB SLC35A1 TALDO1 ANKRD11 SLX4 CASP10 TET2 RAG2 TERT AGK CYCS ACD TNFRSF13B GP9 KDM6A FYB1 RNASEH2A DNAJC21 SMARCAL1 VPS45 KMT2D GBA PALB2 CFI TALDO1 ABL1 HLCS CD46 FANCE FANCM FLNA CFI WFS1 LIG4 SNX10 SLFN14 PDGFRB DKC1 PNP STT3B COG1 CR2 ADA TMEM165 FARS2 ZAP70 UFD1 ETV6 STAT3 NBN GBA CFHR1 CD19 SALL4 ABCD4 TREX1 PSMB9 GP1BB RBM8A TERC RAG1 TFRC EFL1 OCLN FOXP3 FANCE CLCN7 CTC1 LYST TBXAS1 NOTCH1 MMAA DOCK6 MPL FAS TERT NSUN2 CTLA4 XIAP ITGB3 COL4A5 VPS33A PRKAR1A FCGR2B RAG1 THBD WAS TERC GNA14 BLOC1S6 RNASEH2B CFHR3 RPS19 SC5D BRCA2 WAS HLA-DRB1 IKZF1 PRKCD ACP5 MYH9 UBE2T SH2D1A TINF2 MVK EOGT CDC42 CD109 MPIG6B SCARB2 OCRL ADAR RNASEH2C SMARCD2 MYH9 CD36 NHP2 CD40LG CD46 TINF2 SRP54 FCGR2C DKC1 GATA1 PSAP NBEAL2 SAMHD1 IRAK1 DGUOK MAD2L2 MMUT NFKB1 FANCC SRC UROS BRIP1 ABCA1 SARS2 PCCA GBA MMACHC TBX1 IVD TET2 MMUT STIM1 UBE2T RTEL1 TERT SAMHD1 RBM8A NFKB2
Abnormality of the liver
Genes 1378
CLDN1 GPC3 LETM1 MPL PIEZO1 UBR1 TNFRSF11A CLPB IL17RA HNF1B CCDC115 CYP27A1 CTSC TRIM37 BTK AGPAT2 CASP10 ATP8B1 SDCCAG8 HMBS TREX1 POU1F1 C8ORF37 RMRP SF3B1 WDPCP PAX8 KIT CFTR XRCC4 PRKCD NDUFB10 LMNA ATP8B1 TMEM67 KRT8 PCSK1 HMGCL NSMCE2 PEPD CA2 EPB41 NBAS NGLY1 UQCRB TERC IFT172 ABCA1 PMM2 NPHP3 PSAP AP1S1 MARS1 TTC21B TRMT10C CDKN2C LRP5 GBA NDUFAF5 TREX1 CBS WDR19 SUMF1 KRT17 MKS1 PNPLA6 NDUFV2 TINF2 TBX1 IL2RB NPHP4 NPC2 TMEM67 CYP7B1 CEP290 HOXD13 COX8A MMAB BLK MPI PHKB WDR19 ALG8 HIRA TRIM37 GBA CYP7A1 GBE1 ALG9 WDR60 GNPTAB RNASEH2C AP1S1 NRXN1 LMNA CYBA PEX5 KCNH1 LHX3 COX14 ATPAF2 SLC22A5 NDUFS7 TF GDF2 MPC1 SMPD1 PNPLA2 LHX1 PCCB RBPJ PET100 ICOS CTSA CLDN1 PEX5 KMT2E AP1B1 DUOX2 BPGM LZTR1 ASS1 SLC4A1 PTPRC TBX19 HAMP BMPR1A CDKN1C SPIB PIK3C2A ARVCF CALR ATP6V1B2 RAG2 CDAN1 ABCA1 ITCH B3GLCT MST1 COG6 SLC11A2 B9D2 IGF2 CD28 IDUA MRPS7 PEX13 SCYL1 AMACR IGF2 PEX12 JMJD1C IL12RB1 MEN1 MMEL1 FCGR2A NAGA FLI1 HSD17B4 SLC25A20 KRT6B CYP19A1 TTC37 RHAG CD247 RNU4ATAC TNFRSF1A ATP7B TMPRSS6 MET LDLRAP1 GTF2I HADHA BLNK SHPK KIAA0586 IGF2R COA8 PEX2 BCS1L PMS2 ACVRL1 VPS33B IYD UGT1A1 CPA1 HNF4A NCF1 BCS1L TPP2 RNU4ATAC STAT6 PCCA ND4 NGLY1 POLG ND2 ERCC4 PSAP EFL1 PDGFB PIGM ERCC4 RMND1 MIF TSHR BBS7 FANCD2 ALG6 USP18 MRPL3 PEX6 CLCN7 PEX10 ND1 NOS3 MSH2 GATA6 HMBS SMAD4 SNX10 SPRTN PKHD1 BRCA1 ZIC3 WDR35 ALDH7A1 ETFB PEX10 DUOXA2 ACADVL LETM1 TERT KRT18 APOE SMPD1 WHCR FGFR2 PEX11B INVS RPS20 PRKAR1A CR2 HFE MPL SRD5A3 HAVCR2 CC2D2A AKR1D1 HNRNPA2B1 SLC25A13 NHLRC2 COX15 GPC4 MPI DCLRE1C PSMB8 CTNNB1 DDRGK1 LDLR SGSH KRIT1 BTNL2 SAA1 ASL ALG9 PEX16 BTK MSH6 EWSR1 C4B WDR60 HPD COG4 PSAP MKKS BBS5 FANCL ALG13 MYORG HLA-DRB1 FOXF1 MRAS STN1 AGGF1 LHX4 PIGA TGFB1 GPI WRAP53 RNASEH2A TGFBR2 DNAJB11 DNAJC21 FAS APOA1 ZAP70 DCTN4 APC OSTM1 RRM2B C1S IFT140 DPM2 DGUOK BTNL2 GPC3 ABHD5 SOX10 HADHA PEX11B PEX3 SDHA WDR34 TARS2 NDUFAF1 ACVRL1 DYNC2LI1 DLL4 SLC30A10 GATA6 CTSK KLF1 SLC25A13 ATP6 PIK3CA ALG1 DPM2 PPARG COX4I2 TBX19 SLC25A13 RAD51C RMRP FGA ANK1 SLC5A5 NHP2 DLD G6PC3 CSPP1 HJV NDUFB3 APOB SON RASA2 HBA1 MS4A1 SLC25A15 APC LIG4 ACAD9 TFR2 PALLD APOE SOS1 STOX1 RFWD3 RFC2 CTRC LIPE MCCC1 UROS HBA1 HADHB RAF1 NOP10 LIPA RFXANK STXBP2 UROD TNFRSF1B HLA-B SUMF1 TP53 HBG1 SLC37A4 NHP2 FBP1 PCK1 XK TWNK SDHD SLC25A20 TRNN CD55 IDS IL17F MEFV SLC39A8 LTBP3 FANCI GBA RPGRIP1L PRPS1 PSAP DCDC2 HLA-DRB1 NSD2 PEX6 TET2 BSCL2 SLC29A3 ARSA MAD2L2 ABCC2 PEX3 COG2 ATP11C ABCB11 RFXANK LRPPRC SFTPC TMEM216 CFH ITCH PRKAR1A SBDS LYST LZTFL1 PEX14 GPR35 INTU FANCA STAT1 NSMCE2 CYBC1 LBR FGFRL1 CD96 SLX4 CASP10 RAG2 RPGRIP1L TERT MYD88 UGT1A1 IDUA NOTCH2 DPM1 FAN1 CEP55 CLCN7 HAMP BTD CC2D2A MKS1 CEP83 FARSB RNASEH2A BBS2 GCK ELN DNAJC21 CIITA BOLA3 PALB2 GCLC HADHA MKS1 IL7R PKD2 MICOS13 NAGLU SLC25A4 CD46 LBR TMEM67 DIS3L2 MOGS CYP7B1 PNPLA2 ACAT1 CASK ELN UQCRC2 RFX5 SNX10 IL6 COG8 MLH3 JAM3 NDUFV1 CTLA4 CLCN7 ABCB4 PRSS1 WT1 PPARG STEAP3 ADA TG LMNA PLIN1 XYLT1 ZAP70 UFD1 CAVIN1 EIF2AK3 CFTR CC2D2A TNPO3 TWNK GBA NAGS TMEM67 HNF1A F5 TCIRG1 APOE ATP7A FECH WDPCP ATP8B1 NCF1 ND3 NPHP3 RBM8A POLG2 TSC2 NDUFS7 OFD1 LMNA EFL1 UCP2 PEX13 SLCO1B1 MCM4 ESCO2 CLCN7 CTC1 SDHB MSH6 APC CEP290 PLPBP NOTCH1 PEX12 CYC1 CD70 CASR DOCK6 PLG TMEM70 KCNH1 ARSA LRRC8A FAS ICOS DCDC2 RNF43 PLEKHM1 TCTN2 TFAM VPS33A UGT1A1 HBG2 G6PC TTC8 ALMS1 NCF2 PDX1 GLB1 LIPT1 TNFRSF13C B9D1 PEX5 GANAB CARS2 BBIP1 PEX11B FADD CD79A SLC4A1 BRCA1 RNASEH2B TRNS1 TRNE H19 NEK8 BRCA2 CFTR AIRE NCF2 POLG2 APC F5 NDUFS3 APC TERC DPAGT1 CCND1 HLA-DRB1 CEL MYC PROP1 ALDOA GPC4 NR1H4 ARL6 MVK TRHR DDRGK1 HNF1A CBS DAXX TET2 MVK EOGT DNAJC19 PEX16 TTC21B C8ORF37 IFT27 PIK3R1 TERT SCARB2 LBR PC ADAR HNF4A FAH PEX14 IL36RN TANGO2 BBS1 PEX2 POLG2 NPHP3 PEX1 TCF4 HBA2 PIGS SLCO1B3 TRNK ACOX1 NPHP1 PEX26 PTPN3 WDR19 PEX2 SEMA4A MFN2 TINF2 ETFDH APPL1 GNPTAB PSAP RAG2 AGPAT2 RFXAP HBB USP9X NFKB1 FANCC KCNJ11 IL2RG CNTNAP2 LMNA GYS2 PKHD1 RECQL4 ERCC8 GBA AMACR KRT18 HMGCS2 MYBPC3 GUSB VCP PEX13 SP110 PRKCSH CDKN1B TET2 CSPP1 MMUT UBE2T FBP1 RRM2B KIF23 JAK2 PEX1 IER3IP1 DZIP1L SPINK1 ND5 GUSB SBDS PEX1 FERMT3 ABCG8 LYRM4 B2M JAK2 DPM3 NLRP3 POU2AF1 BRCA2 TYMP LYZ PKD1 PEX12 BSCL2 RFX5 IDUA HBB RASGRP1 NOP10 HYMAI HYOU1 CASR ENG DHCR7 HBA2 IFT172 NUBPL PTRH2 CEP19 KCNN3 CC2D2A TMEM199 RPGRIP1L PEX19 ADK SEC63 WT1 SURF1 ERCC4 HNRNPA1 VIPAS39 RRAS2 BCS1L KLF1 GPC1 TCIRG1 RELA COX6B1 HSD3B7 CPT2 COX15 TSHR IFNGR1 CPT2 PKLR PLAGL1 FANCF ND2 SDHA HEXB NRAS RFXAP KLF11 MECP2 INPP5E TRMU NDUFA11 IFIH1 H19-ICR ASAH1 SLC7A7 TRIM28 SLCO2A1 CLCA4 MLXIPL CLIP2 BMP2 BRCA2 DMD DPM3 POU6F2 DHFR CTBP1 STEAP3 PARS2 SERPINA1 NDUFS2 SPTA1 PRF1 ABCB4 INSR LIG4 CEP290 PAX8 ABCD3 KCNN4 TMEM107 SDCCAG8 CIITA SEC23B MUC5B PRSS1 NPM1 ITK MSH2 SEC63 SRP54 IFIH1 XPR1 IFT172 SLC13A5 STX11 JAK2 TBL2 ALMS1 KRT6A COX20 ABCG8 BSCL2 SLC17A5 NPHP3 TRMT5 COG7 FAH PHKG2 ABCC2 POMC TNFRSF13C SEC24C FANCG IDUA IL2RG PEX26 GALNS SLC40A1 FUCA1 TRAPPC11 TSFM SPTB CD3E GNE TCF3 SLC29A3 PEX3 COMT CA2 SAR1B AGA CDKN2A CLEC7A SKI SPTB POLG KRAS GPC3 SMPD1 REST SPTA1 SLC7A7 AKT2 IFT122 PEX14 SPECC1L FAM111B EPB42 GYPC HFE GPD1 SLC20A2 PEX10 CORIN GNS ALAS2 CD79B PEX6 PRDM16 FOS BBS10 PDGFRA SLC30A10 NDUFAF3 MPV17 HADHA GBA IL1RN GBA BBS1 GNAS HBB SLC25A15 CAV1 XRCC4 CPT1A PEX13 FANCB KRAS STX1A FECH RAD51 SCYL1 TNFRSF13B MMUT LIPA NDUFS1 GABRD ANTXR1 ADAMTSL2 GP1BB PEX14 POLR3A COG1 SKIV2L VPS13A PFKM RFT1 KRAS ARSA SMAD4 PPARG DIS3L2 INPPL1 NDUFS4 ACAD9 AP3B1 NOTCH2 NLRP3 GATA2 TTC7A SC5D AKT2 SKIV2L JAK3 DDOST ADAMTS13 PRKCSH PAX4 RTEL1 VHL FASTKD2 HBB NEK1 NDUFA6 ALG8 RPGRIP1 ATP7B NPHP1 INSR IL7R OFD1 SPTB CDKN1A CASR PEX1 XRCC2 CD19 PEX10 ALDOB TRIM28 PCSK9 RPGRIP1L ANKS6 CYBB PSAP TPO PSMB4 CPT2 LIPE WT1 APOC2 IFT80 PTPN11 KIT ARSB SP110 AGL HSD3B7 NDUFS6 ASAH1 PEX19 SOS2 CFTR KCNQ1OT1 NKX2-5 CD27 PEX12 RFT1 RRAS NDUFB9 LPIN2 RREB1 GCGR TGFB1 PEPD UNC13D RNU4ATAC STK11 DOLK LONP1 TIMMDC1 APC IL12A BTK BCS1L PDGFRA SCO1 FOXRED1 PHKG2 CD81 EPB42 DKC1 SMAD4 STK11 PRKCD ACSF3 C11ORF95 ATP6AP1 IFT80 COX10 CEP290 NLRP1 TMEM126B HBG2 NLRC4 COX10 DYNC2H1 PDGFRL TNFSF12 KAT6B FLT1 TMEM216 ADA FASLG IFT43 NDUFAF2 TREX1 CTRC DNAJC19 BMPER SPINK1 RIT1 BBS9 ERCC6 NDUFA1 MPV17 TMEM67 BAZ1B POLG KRAS TRNW LACC1 GALK1 ARHGAP31 COA8 ND6 BSCL2 HNF1A CIDEC FASLG INS NFKB2 WDR35 ABCC8 TRNV NEU1 RERE IQCB1 PLEKHM1 DLL4 ACADM SLC25A13 RHAG ETFA TRMU SLC26A4 GBA TACO1 CPT1A TNFSF11 HNF1B IL17RC FAN1 TBX1 UGT1A1 NEUROD1 RBCK1 GTF2IRD1 CDKN2B HK1 CTNNB1 POLD1 G6PD IFT140 ERBB3 C1QBP PARN LARS1 ALG11 ARSA HELLPAR PMM2 TNFSF15 LCAT ICOS TNFSF12 DMPK GLRX5 USB1 NAGA FAS IL21R TTC7A SLC39A4 AGA FBN1 PYGL MYRF PRSS2 ENG MLH1 ABCC8 CTNS PCCB PEX3 TALDO1 HPGD NDUFAF4 NPHP3 SLC4A1 ALDOB CCDC47 JAG1 COG5 PKLR TNFRSF13B COG8 MRPS16 TSC1 ALG2 FBXL4 EIF2AK3 FUCA1 NPC1 CPOX GLB1 NEUROG3 KCNQ1 GLIS3 VPS45 ABHD5 EXTL3 WDR34 CAVIN1 PTEN TRIM32 GBA FGFR2 CFI PEX26 TALDO1 HBB AXIN1 SRD5A3 KCNJ11 UGT1A1 COG4 IDUA FANCE FANCM IGHM SLC2A1 TRAF3IP2 PEX6 HJV TRAF3IP1 HNF1B TP53 POU1F1 CEP120 SLC22A5 PSMB8 TNFRSF1B SLC25A19 DNASE1L3 PEX26 PDGFRB SLC37A4 HMOX1 HGSNAT SETBP1 CR2 ACADL CEP164 TMEM165 HADH SFTPA2 MET AP3D1 ACADM LRP5 HNF4A H19 NDUFB11 EARS2 PEX3 PMS1 BRAF ATP7A BBS12 IFT172 TJP2 KRT16 ABCG5 DYNC2H1 GDF2 AHCY CD19 ACADVL GUCY2D HMGCL DLD TNFSF11 CYBB GNMT TRIP13 SLC40A1 GAA CYBA DHDDS ABCB4 RAG1 TREX1 TTC37 JAK2 MLH1 PSMB9 NSD2 WDR35 SLCO1B1 LMNA LMNB2 SDHC TERC CAV1 RAG1 PEX1 OCLN HBB FOXP3 CIDEC PLIN1 LYST PEX5 BCHE A2ML1 INPP5E ABCG8 CD3D CYP27A1 COG2 MMAA CPLX1 TRNW PEX2 SETBP1 CTLA4 DCLRE1C HESX1 TGFB1 CTLA4 XIAP IL7R LIPA TMEM67 NOD2 NELFA IL2RG RFX6 EPB41 RAG1 TRAPPC11 SLC25A1 RHBDF2 IGLL1 PIK3CA POMC LMNA SERPINA1 LIMK1 GALE TSHB ABCB11 DYNC2LI1 NDUFAF1 GALT SLC2A1 CCDC28B GALT ANK1 SC5D SLC35A2 TRNL1 PEX12 WDR19 DHCR7 AKR1D1 PGM1 IL2RA TMEM231 ND1 BLVRA NDUFS8 ACOX1 ATM FDX2 MRPL44 IKZF1 PRKCD ATRX CASP8 HFE MYH9 SH2D1A PEX16 PCK2 PEX19 H19 ADA2 RHAG HNF4A NAB2 XIAP CDKN1B CHD7 LPL FH ALAS2 C15ORF41 TRAF3IP1 HADH RNASEH2C EPCAM SLC25A19 PEX16 PEX6 NHP2 CD40LG ZMPSTE24 PHKA2 RAB27A SRP54 DKC1 TPI1 TUFM CD28 ND3 GLB1 DGUOK MMUT GPIHBP1 PEX19 HADHB NCF4 NRAS PALB2 BRIP1 AUH PHKA2 TCIRG1 YARS2 BBS4 ABCA1 GFM1 SLCO1B3 KCNAB2 PCCA MAN2B1 IRF5 APOA1 KRT8 CP TBX1 GNE CPT2 NDUFS4 GCDH TERT SAMHD1 IARS1
Reduced factor VIII activity
Genes 5
F8 VWF VWF MCFD2 LMAN1
Reduced antithrombin III activity
Genes 14
DPAGT1 AHCY SERPINC1 PMM2 ALG6 SERPINC1 MGAT2 DPM1 PMM2 DPM2 SRD5A3 SRD5A3 MPI PGM1
Pulmonary embolism
Genes 57
GDF2 MPL TLR4 COX1 SERPINC1 AKT1 STAT4 CCR1 PROS1 CBS TRNF TET2 TRNH GNAQ ND1 ACVRL1 ND4 SERPINC1 GNAQ F2 TRNW COX3 PROS1 ERAP1 AGGF1 TRNL1 PROC F13A1 KLRC4 IL10 PROS1 UBAC2 HLA-B PIGA PROC COX2 HABP2 TRNQ CD55 C4A SMAD4 IL12A-AS1 IL12A TRNS2 IL23R KCNJ5 ND6 MEFV TRNS1 PTEN ND5 MTHFR PROC FAS PLP1 ENG JAK2
Hepatic fibrosis
Genes 140
CSPP1 TTC37 DYNC2H1 BBS9 TMEM67 MET IFT122 DZIP1L TMEM67 SLC40A1 WDPCP ARHGAP31 ABCB4 TTC37 GPD1 WDR35 NPHP3 POU2AF1 BBS10 SDCCAG8 C8ORF37 IQCB1 DLL4 PLIN1 BBS1 WDPCP SLC25A13 CEP290 NOP10 INPP5E NOTCH1 SCYL1 PTRH2 DOCK6 TMEM67 BBS7 CC2D2A SKIV2L RPGRIP1L DCDC2 TCTN2 LIPA TMEM67 IFT172 PMM2 NPHP3 RPGRIP1L CTNNB1 AP1S1 PKHD1 WDR35 GPC1 TTC8 NEK1 B9D1 PMM2 TNFSF15 RPGRIP1 NPHP1 BBIP1 INSR FADD INVS OFD1 CCDC28B PEX1 MKS1 PNPLA6 NEK8 CC2D2A LZTFL1 INPP5E RPGRIP1L ANKS6 GPR35 NPHP4 TMEM67 CEP290 MPI TMEM231 IFT80 MPI ARL6 AGL WDR60 CEP55 ASL ALG9 CC2D2A EOGT BBS2 MKKS IFT27 GLIS3 BBS5 INSR CEP290 TRIM32 ABCD3 TRAF3IP1 TMEM107 SDCCAG8 BBS1 DOLK MKS1 RBPJ TALDO1 TCF4 IL12A NPHP1 NHP2 WDR19 TMEM67 HJV HAMP TRAF3IP1 CYP7B1 NPHP3 SPIB PHKG2 IFT140 DGUOK MST1 B9D2 PHKA2 SLC40A1 WDR34 BBS4 PKHD1 TMEM216 SCYL1 DLL4 CEP164 IL12RB1 IRF5 MMEL1 BBS12 IFT172 CC2D2A TNPO3
Toxemia of pregnancy
Genes 21
PPARG LMNA F5 NR3C2 HELLPAR SLC25A20 CORIN PPARG CFI NOS3 DHPS HBA1 CFH STOX1 CYP11B1 LBR CD46 EP300 HBA2 ADGRG6 CYP11B2
Glioblastoma multiforme
Genes 23
FAN1 APC BMPR1A KRAS BRCA2 RPS20 MLH1 MSH2 MSH6 EPCAM PMS2 MLH1 MLH3 PMS2 PMS1 MSH6 TP53 MSH2 TGFBR2 PIK3CA SEMA4A ERBB2 IDH1
Abnormality of the cardiovascular system
Genes 4016
CLDN1 LETM1 FAT4 TNFRSF11A CPLANE1 GLI3 IL17RA PRKAR1A CCDC115 SOX9 CYP11B1 MYPN CYP11B2 F2 TET2 SDCCAG8 SMAD6 LMNB1 KIT GLI1 NDUFB10 EMD MYH6 C2CD3 GDNF PEPD DLL3 NBAS ABCA1 NEDD4L ARL3 FGF8 ROR2 PTCH2 PDE6G PRKCH CDKN2C SELENON TFAP2B GBA TREX1 SMAD6 ASXL1 PRPF31 PIGV POMT2 NPHP4 DDC TMEM67 SFTPB ZFPM2 SPINK5 HIRA SLC19A2 GBA CYP7A1 GAS8 MEN1 CEP57 GP1BA FKRP WDR60 MCTP2 KDR LMNA CSTA SDHC KCNH1 OPA1 FHL1 SGO1 ALDH18A1 EXT2 XRCC2 GPX4 GDF2 TNFSF4 NF1 CDON HLA-DPB1 KAT6B DNAAF1 NDUFS1 KCNE3 BCR APP MEFV SPAG1 CYLD CCDC40 JAK2 SSR4 IL10 TRDN ACTN2 HAMP NOTCH3 MYH7 MC2R CALR SCN1B EYA4 DDX58 B3GLCT FCGR2A SUFU IGSF3 IGF2 STN1 IFNG SH2B1 SCYL1 LMNA COL5A1 NONO ATIC SMAD3 TGFBR1 IFNGR1 SDHAF1 LONP1 DSG2 LDLRAP1 GTF2I CDC45 PDE3A BMP2 CCNQ GFI1B TXNRD2 RYR2 ATP5F1D SLC25A22 RPGRIP1L SGCG ZNF687 LRP5 DNMT3A VWF PRPF6 RPS26 PROP1 JAG1 PEX1 NCF1 PAFAH1B1 DLL1 BEST1 PIK3R2 ITGA2B ND4 SDHA CCR6 KDSR TBX3 SHOC2 PRKACG JUP DPF2 SCN5A MRPL3 TRNE CD81 F7 SDHB IGBP1 DSC2 LZTR1 BRCA1 ACADVL MAP2K2 CNGA3 HRAS WT1 NDUFB8 GREB1L GATA1 MTHFR KCTD1 TMPO GJA8 MAK MTHFR POT1 HAVCR2 SERPINF2 GATA3 CC2D2A SDHB NLRP3 RAF1 KCNQ1 MPI FAM161A HESX1 LRRC56 GLB1 KIAA0586 STK4 SAA1 COL1A2 ALG9 NDUFA12 EWSR1 TRPM4 PACS1 MYORG EED EFEMP2 MRAS CNGB3 DYSF GYG1 GTF2E2 MAP2K1 PIGA SCN1B ESCO2 AKAP9 TGFB1 RNASEH2A DSP DNAJB11 FBLN5 SLC26A2 ZAP70 APC TTR TPK1 GATA4 NEK9 ARHGAP31 TMC6 DGUOK DSP TFAP2B KIT KRT2 SOX10 HADHA WDR34 ALX3 GABRA3 CCDC114 MYH11 SLC30A10 GATA6 HYLS1 NDP MGME1 STIM1 ATAD3A COL7A1 TPM3 SLC25A13 ADAMTSL4 FGA CD40 HEPHL1 ND6 DLD HYDIN ATM KCNQ2 USP45 VAMP7 MID1 FRG1 IDH2 PSEN1 BCL10 NDUFB3 CCR1 SON SOS2 ERCC2 GP1BA HBA1 STRA6 MVK TFR2 KCNJ8 ATP6V0A2 CPS1 KMT2D KIF15 TMEM70 SH3PXD2B ATRX HPS3 RS1 GATA4 LRP1 NDUFS3 TRNT PIK3CA RSPH4A CSPP1 CYSLTR2 TRNQ SDHD PTPN22 TRNN GJB3 CD55 ALG12 CCM2 ATXN7 FANCI UMPS MKKS RLBP1 NSD2 RARB MAP3K1 ANKRD1 CDK4 BSCL2 VANGL1 CDH23 AK2 GATA4 MAD2L2 ERCC3 TNNI3 AHR ARID1A PTH1R SCN2A KCND3 OFD1 MYH11 FLT4 PRKAR1A ITPR1 KLHL3 GPR35 HFE NR2F2 COL4A4 CALM2 ABL1 KCNE1 TUBB CD96 SLX4 RAG2 MTOR CHRNA1 STAG2 KRT14 CEP55 TRNW AIP BTD CUL7 HSPG2 SCNN1A FARSB NR3C1 RNASEH2A FLNA BTD TGFBR2 ADA FSCN2 AKT1 KMT2D NOTCH1 ERGIC1 PPCS NF2 GCLC TNFRSF1A IL10 MICOS13 LRP6 PRKACA SLC25A4 MESP2 LBR RFWD3 SCNN1A PERP B3GALT6 DNMT3A CSF2RA MYH6 TCAP CYP7B1 CCR6 ACAT1 TSPYL1 ELN IL6 ELN MLH3 FGFR3 CACNA1C ACSL4 FLT4 SKI MTAP VPS13B CAVIN1 KANSL1 COL3A1 GATA4 MYMK F5 KAT6A ATP7A AKT1 PRKAG2 ITGB3 SNAP29 CCDC141 NCF1 WASHC5 ND3 NPHP3 POLG2 LORICRIN INS NDUFS7 WDPCP BUB1 TBXAS1 CENPF HGSNAT FGFR1 SGCG MEF2A CLCN7 CEP290 C8ORF37 SRCAP GNAQ HAVCR2 NOTCH1 GLI2 IGH ZIC2 DOCK6 PLG HABP2 LRRC8A GJA1 ITGB3 CHCHD2 FCGR2B NCF2 GLB1 TNFRSF13C GANAB WAS PRDM6 GATAD1 MYPN CD79A SCN5A TRNS1 H19 H19 RBP4 AIRE NCF2 POLG2 NDUFS3 AGBL5 RIT1 C12ORF57 AKT1 CCND1 PBX1 KIF5A PQBP1 CALM2 MVK ERCC5 DDRGK1 ACP5 EDNRA DAXX CDC73 KRT14 DNAJC19 PEX16 IFT27 PIK3R1 TERT CYP11B1 PEX14 BBS1 TMEM127 MYH9 PEX1 GNAS NKX2-1 TCF4 GNAS HBA2 FLAD1 OTC CACNB2 ARID2 MTTP PEX2 SEMA4A PIK3CA COL1A1 KIZ PIK3CA SF3B4 FLII ACTN4 GNPTAB NFIX BEST1 PTEN SPATA7 CCDC22 WRN CNTNAP2 RPS17 RIN2 VCL KIF1B GBA TRNT1 MCIDAS PEX1 FGA MRAS RANBP2 TGM5 GTF2H5 ND5 PTEN SBDS ALKBH8 COX3 ATP6 UPF3B ABCG8 ALDH3A2 COX15 ACTA2 ERCC2 DMD RPGRIP1 RAI1 NLRP3 POU2AF1 RNF168 ANOS1 SGCD IQSEC2 XPNPEP2 CYB561 GINS1 TERT IDUA APOB ND2 HYOU1 COX2 TUBB MBTPS2 IFT172 NUBPL CEP19 PROKR2 TMEM231 IRF2BP2 MYH6 PRPF4 KCNA1 SEC63 BAP1 ERCC4 KCNJ5 DNAI1 LRP5 VIPAS39 SHOC2 HSD3B7 PKLR RPL15 COX3 SCNN1G ZMYND10 MECP2 ATP5F1A RPS17 H19-ICR PITX2 MYPN CTSA SLC7A7 DHDDS GP1BA SELENON HLA-B ORAI1 IFT140 KCNE1 NFU1 GDF6 SPTA1 CALR BAP1 ENPP1 CNGA1 SMARCA2 PIGW KCNN4 RYR2 MOG MAP3K7 IFIH1 COL5A1 TMEM216 RET TBC1D24 APOA5 DCAF17 ND5 COX1 COG7 FAH JAK2 TNFRSF13C MEN1 FKTN SEC24C RPL31 IL2RG CCND1 DNAAF6 MYH7 TWIST1 KIAA1549 FLI1 MAPRE2 MIPEP APP ACTA1 MMP1 SPEF2 PAFAH1B1 CACNA1D NAA10 KRAS SMPD1 SPTA1 TDGF1 RPL11 HMGA2 GP1BA SLC52A2 PEX14 TBX2 EPB42 GYPC SMARCB1 GNS SERPINA6 FOS BBS10 LDB3 LARP7 PDGFRA NDUFAF3 B9D1 GBA GBA PROC NAA10 CAV1 FANCB SELENON FECH MMUT LIPA DBH DTNA POLR3A CALM3 POMT2 BCOR KRAS BCOR SMAD4 KCNH2 LMNA MYOC LCAT EDNRB MSX1 NOTCH2 WRN NLRP3 SEMA3E IRF5 RPL5 ND1 PACS2 EYS ACVR2B POLR1A SPP1 RPGRIP1 KCNE5 SDHAF1 RPGRIP1L F13B SNAI2 DPP6 DRC1 ADNP TMEM231 PSMB4 CPT2 TRNL1 ANAPC1 COX1 FOXC1 FGFR2 STAR TECRL AHI1 NOTCH3 KCNQ1OT1 COQ7 TMEM237 D2HGDH NKX2-5 RFT1 RPGR TGFB2 PLN TSHR MYL2 SCN11A LONP1 SIN3A GJA1 MYT1 SCNN1B CCDC22 NECTIN1 PDGFRA CFTR GDF3 RET EVC2 PRKCD GSN NOS3 ALB COX10 EIF4G1 PTPN11 ATR ROM1 TPM2 LMNB1 VPS35 DSG1 CDC73 SKI TREX1 SCN2B PRTN3 CAV3 GMPPB COL3A1 SLC39A13 FGB SLC25A4 FLNA APC2 COL3A1 BBS9 KRT5 WNT5A SMARCA4 NDUFA4 PEX7 TRNW SYNE2 HNF1A SUFU GM2A CFAP300 NFKB2 IFT88 FANCB GNAS NKX2-5 WASHC5 CALR NDUFAF3 RHO MMP14 MAP2K2 BPTF GBA IRX5 ATOH7 SEC61A1 LAMA4 B4GALT7 SERPING1 ELOVL4 PEX6 FOXC1 ACAD8 TBX1 THPO GTF2IRD1 SALL4 PML ND6 NDUFS7 DNM2 FLNC SOS1 GFI1 EFTUD2 NR3C2 SGCB TNFSF15 HDAC8 POR FAM111A PITX2 DMPK USB1 FAS GJC2 SOX10 SETD5 SLC26A2 KCNJ2 TBXA2R SLC20A2 ADNP TMEM237 F10 COL3A1 MYBPC3 CCDC47 HS6ST1 TPM1 ATP5F1E COG5 KDM6A FBXL4 ADCY5 ROR2 MAP3K7 CPOX RPS6KA3 WNT4 GLB1 CYP11B2 GLIS3 IL10RA SMC1A CAVIN1 BNC2 GBA CFI GATA4 COX7B F2 HBB IDUA FANCE SDHD PRKG1 FLNA PKP2 SLC22A5 PIBF1 ARL2BP PDHA1 TNFRSF1B PEX26 PSEN2 ELP1 SLC37A4 LIPC DNAH5 PIGN ARNT2 SFTPA2 CLCNKB PSEN2 ACADM RAC1 CRTAP SMAD4 NDUFB11 RPS6KA3 GDF1 FAT4 NDUFA11 IFT172 TFAP2A TRDN SALL4 DLD TNFSF11 STAT3 PTPN22 MEGF8 SDHC PSMB9 NLRP3 DCHS1 EXT2 NUP107 SMCHD1 EFTUD2 TRAC ANK2 OCLN HBB CALM2 LYST PEX5 RAF1 SCN5A PIGL RTTN ABCG8 MYO5B CRKL NKX2-5 TGFB3 CPLX1 PYGM DCLRE1C CALM1 HCRT CALM2 PARN PRKAG2 TPM1 SGCB SPEG RYR1 ZMPSTE24 SLMAP IL2RG CASP8 TMEM260 RAG1 CFAP410 PSTPIP1 SGCA MYH7 NDUFV1 KCNH2 ALOXE3 SLC26A2 TRPM4 FBN1 SLC35A2 LIPC ALB TRNL1 CASQ2 JPH2 PGM1 SCN1B RYR2 CCDC103 IL2RA LIPT1 ATM TFAP2B RET FBN1 CACNA1D MRPL44 IKZF1 HIC1 SH2B3 ZNF469 LTBP3 CACNA1D H19 UBR1 ADA2 IMPG2 HNF4A MYF6 COL6A3 NDUFA9 ALAS2 HLA-DRB1 C15ORF41 OBSL1 MEN1 TRAF3IP1 CDH23 PDE6H OFD1 PEX16 POR KCTD1 TPI1 CD28 TRIP11 ND3 DDB2 MYL2 GRIP1 MMUT BLOC1S3 PLCG2 TGFBR3 ABCC6 TSR2 PTEN MYO18B NCF4 NRAS FGFR2 FERMT1 SON KCNAB2 ARHGEF18 SERPINF2 MMP1 IRF5 EVC APOA1 FAT4 CP CNBP GNE DDX11 STIM1 CYP1B1 NDUFS4 DSP RASA1 SAMHD1 CNGB1 CYP11A1 IDH3A TMTC3 ARID1B GMPPA MGMT ZFPM2 MYH7 PCARE RIPK4 CYP27A1 ATP6 BTK SNCA STX3 AGPAT2 MYH7 CTC1 CTSH KRT5 FRAS1 LZTFL1 MTFMT GPC4 POMT2 TGIF1 HMBS TREX1 AKAP9 PROS1 STAT3 SALL1 TMEM43 RMRP GPR101 WDPCP PCARE CFTR SNCA HBB FBN1 SLC25A4 ASCL1 CFHR1 AGT YY1AP1 CYP24A1 ECE1 FZD4 PMM2 GCK NDP PAH OTUD6B ARMC4 CBS ERCC4 GUCY1A1 SLC2A10 AMER1 SDHA MKS1 NDUFV2 FTO WFS1 DBH DHCR24 RPS7 MYH7 TRNL1 NKX2-1 HOXD13 COX8A SGCD WDR19 STAC3 MLYCD DMD LEP KAT6B CFAP53 COL1A2 COX14 GNA11 CERKL ESS2 TF PNPLA2 PDE6C CYTB MFAP5 SPEG DES STRADA TLL1 PLAU CHRNG CPOX PTPRC SNRPB TGFB3 KDSR CDKN1C ARVCF BACH2 ATP6V1B2 ABCA1 ITCH CFH TMEM237 POMGNT1 PIGV TMEM127 SRD5A3 TBX5 ATRX IDUA CITED2 PEX13 IGF2 CHST14 PEX12 JMJD1C F12 ACTB CCDC103 FGF17 FCGR2A NAGA APC NF1 SLC25A20 GPC6 DNAL1 DES TTC37 ACTA2 BLNK SHPK FOXP1 MAT2A SMARCA4 F7 PIK3CA FLNB SIM1 GJB2 TPM2 GNAQ FOXC2 HLA-DRB1 GJA1 PMS2 MPLKIP AIP POMP NNT SDHB CLRN1 ACTG1 XPNPEP3 ERCC4 PSAP ARCN1 SIX3 BAG3 RPSA DNAAF5 TMEM237 DES USP18 AGK PEX10 NODAL XRCC4 ND1 SNX10 CHD4 JAK2 MAP2K1 KRT18 KRAS WHCR CTLA4 GJB3 GATA1 RAI1 ITGA8 INVS RPS20 PRKAR1A PROC DCAF8 DVL3 CCDC141 MEIS2 ACTG2 COL1A1 PSMB8 POLG CHRM3 TRAF7 LRRC6 TNNI3 SEMA5A RERE CSRP3 CCBE1 ALDH18A1 CTSB DSP SCN10A HES7 MKKS JUP BBS5 FANCL FLNA STN1 LIAS PLCB4 SDHD NF1 ALDH18A1 WRAP53 COL2A1 RAD21 HLA-B COX2 FAS POLR1D OSTM1 RRM2B RPS19 ERCC2 GPC3 ND5 TRIM8 SDHA COG7 VCL STAT3 ACVRL1 KCNA5 PTEN DLL4 ADAMTS10 HRAS GNAS FGFR2 ALG1 USH2A PPARG KITLG IFT172 BMP2 GATA1 SF3B4 G6PC3 NXN ACTG2 EPG5 SETD2 COL1A1 HJV DNAAF3 TXNL4A MYH3 NKX2-5 HSD3B2 LIG4 MKKS LMNA ATP11A FBLN5 PDE6B KRT83 NRAS PALLD APOE CA4 ARL3 PADI4 TCTN1 HBA1 RAF1 LIPA HLA-A PCNT SAMD9 VWF ATN1 CRB1 ALX4 BMPR1A TWNK FKTN PIGL TGFBR1 STAT4 HESX1 SMARCE1 DVL3 ZFPM2 RPL10 EBP XYLT2 CCBE1 EPG5 TET2 FLNA NR3C1 MRPS14 PEX3 GATAD1 SFTPC SUGCT HLA-DQB1 NPPA RET RPL26 WNK4 LZTFL1 PQBP1 STAT1 SLC35A1 FGFRL1 KISS1R CASP10 CACNA1C RAD21 MYD88 GLA B3GLCT GP9 RAP1B CTNNB1 PAX6 SERPING1 PTEN ATP2C1 TMCO1 CD244 TTN TNXB FGF20 RPS10 ELN KRT16 SMARCAL1 COL4A2 BCL2 EMG1 BOLA3 HADHA TGFB3 PKD2 LEPR NAGLU RAG2 ABCC9 ELN IDH3B ETHE1 MITF RPL26 ITGA2B LMX1B PNPLA2 BLM INHBA CASK ESR1 CALR VPS13B SNX10 GNPTG SLFN14 PIK3CA NOTCH2 B3GALT6 CLCN7 CLRN1 DSE PPARG PKP2 STEAP3 ADA KRAS TTC25 DLST LOX LOX UFD1 F2 EIF2AK3 NOTCH1 NEB DMD BRAT1 HGD LIFR TMEM67 KRT1 TCIRG1 APOE WDPCP GNA11 RYR1 ATP8B1 MYH7 SDHAF2 CHST3 CXCR4 RBM8A SOX9 NF2 CASK LMNA PEX13 RPS29 ESCO2 CFAP221 EHMT1 F10 NF1 DNAI2 ACTA2 TTC8 CD70 CCDC114 TMEM70 LTBP4 KCNH1 FAS POLA1 PPP1CB TCTN2 SH2B3 SDHC VPS33A ESCO2 DCC GJA5 CISD2 NID1 PAX3 TTC8 CCNO DCHS1 CHRM3 B9D1 ISG15 PEX11B FADD SLC4A1 SELENON RNASEH2B IDUA AVPR2 TRNE KCNK3 RSPH9 TFAP2A SLC12A3 F5 TCTN3 COX7B PIK3R2 MYC ARL6 CCN2 PLOD3 CBS FGB GATA6 SMARCB1 ABCA3 SCARB2 DIS3L2 POMT1 SCO2 UBE2A WT1 PIGS TRNK TGDS WDR19 FKTN PNKP POMGNT1 IL17RD SCNN1A HBB MERTK COL1A1 KCNJ11 POLE PPP2CA STAMBP AGT SOX18 TGFBR2 FGA ERCC8 MYMK SCN9A MYBPC3 NDUFS2 VCP CDKN1B B3GAT3 KIF23 JAK2 MTMR14 PDE6A ANK2 STXBP1 RPL35A NFIX XPC CRYAB COL5A2 GREM1 ARF1 TTN LYZ HBB FLRT3 DNAH1 CEP290 SNRNP200 DHCR7 HBA2 KRT1 RPGRIP1L MYL3 MYH7 AEBP1 HBA1 CFAP300 HNRNPA1 MTO1 KDSR FKBP14 SOX10 RRAS2 COL11A1 DISP1 KRT5 CENPE SH3PXD2B COX6B1 LMOD1 ATP6V1E1 MFAP5 SARDH SLC25A24 GMPPB RLBP1 NRAS ADA2 GCDH EDN3 SMAD4 SEC23A SDHD TOP3A CDH23 CLIP2 CTBP1 REEP6 PARS2 USB1 ABCB4 PRDM5 AARS2 CYLD MMP21 SRP54 KCNJ18 CFHR3 STX11 TBL2 FGG ALMS1 DNASE1 DMRT3 NPHP3 DNAI1 NABP1 TSC1 LMBR1 GUCA1B IRF8 MKS1 FANCG ZNF365 MEOX1 ARID2 GALNS TRPS1 SLC39A13 CD3E NKX2-5 ELANE COX1 GNE SLC26A3 MED12 MYOT COMT GJB4 KCNJ2 AGA ELN CDKN2A WWOX COA5 GJB6 STIM1 SRCAP SLC7A7 IFT122 TBX22 DHPS LMNA SPECC1L TRNH PEX10 ARID1A IDH1 FGFR1 CASR CHN1 MAFB SCN2B SRP54 TRNL1 BBS1 SLC26A2 AAAS TUB CPT1A KRAS KMT2A TNFRSF13B GABRD GP1BB VPS13A RP9 ARSA OSGEP MRPS22 DIS3L2 INPPL1 NDUFS4 ACAD9 TRPC6 CD96 DCAF17 TTC7A JAK3 COL2A1 NLRP12 NEK1 SETX TRNS1 KCNE2 SCN5A NPHP1 STK36 TPM1 IL7R PRDM16 OFD1 XRCC2 CD19 KCNJ18 FBLN5 NDUFB11 CYBB RIN2 WT1 APOC2 KIT KCNJ1 PLEC MAPT CAV1 NDUFS6 SMAD4 PRKAR1A PDGFB HNRNPU SOS2 KIT GJA1 GNAQ P2RY11 TRNW YWHAE TGFB1 AHI1 KYNU NOTCH1 C1QA TIMMDC1 PSAT1 KIF1B P2RY12 DKC1 TAB2 CKAP2L STK11 LMNA ERCC6 RBBP8 CDSN POGZ DST GTPBP3 RPL15 SCN9A TMEM216 SMARCE1 WARS2 TTN FASLG RPGR RGR NDUFAF2 LTBP4 NFE2L2 XYLT1 PPCS OFD1 C3 ND4 SNRNP200 ERCC6 FGFR1 FBN1 RYR1 DPF2 PAM16 ECHS1 BSCL2 FASLG KIF7 PROK2 MEOX1 ZMYND10 TBXAS1 PTPN22 TCIRG1 ERCC2 LTBP2 CKAP2L DSP IQCB1 DLL4 CHRNG BAG3 SCAPER CPT1A RPL27 FLNC GATA5 FN1 CC2D2A MYH11 AUTS2 ERBB3 PTPN11 EBP PARN RARA RNF113A HELLPAR PEX7 TEK ICOS IFNG FZD4 GLRX5 TWNK ROBO4 FBN1 NOS3 CYP3A5 TRNK MYRF KAT6A ENG PCCB MNX1 EZH2 TALDO1 DNAAF1 CDK13 TET2 HPS6 AGK PHOX2B JAG1 RBM20 LMNA DUX4 MCCC1 PTF1A BRAF TSC1 GNB5 FUCA1 IGF2 VPS45 ACE TPM3 TTN TMEM67 CYP11B2 ELMO2 PTCH1 ZFPM2 SIK3 BUB3 ACTA1 CYTB PLCG2 NAA10 SLC4A1 TSC1 SLC2A1 LDLRAP1 TRAF3IP2 TCTN3 LIG4 DHODH TP53 NFKBIL1 ZNF148 FEZF1 DNASE1L3 TSPYL1 CAP2 ELN HGSNAT TTN FOXH1 PIGN RNF213 KAT6B FMR1 NODAL ETV6 PMS1 FGB TBX4 ATP7A CYTB SUZ12 TMEM138 FERMT1 F5 CFHR1 AHCY TSC2 KCNJ11 CARD9 CAV1 NDUFA2 GJA1 FGFR2 FUZ TREX1 MLH1 MUC5B LMNA SDHC RAG1 FKTN DNAH5 HES7 TNNC1 RYR1 FGFR2 ANO5 PIEZO1 FOXP3 IRF8 INPP5E NFIX CD3D LHX4 NOS1AP PROS1 NDUFAF6 ARL6IP6 NAGA NSUN2 ZNF513 ND4 SMARCB1 RSPO2 SYNE1 MED25 TBX3 PDE3A PRKAR1A TPM3 NELFA NDUFV2 HBA2 RHBDF2 CAV1 NKX2-5 RDH5 HPS1 LMNA FOXE1 LIMK1 ABCB11 SH2B3 DNAH1 PTCH1 FAS RPL27 TULP1 TRIO AGXT TMEM231 ND1 SF3B1 RPS24 LAMA3 KCNQ1 HFE FLNB GLUL TBX1 MPIG6B LAMP2 GGCX FSHR FGF8 BLM LPL SERPIND1 NEK1 FGFR2 MGME1 RNASEH2C GIGYF2 LOXL1 NKX2-5 TRNL1 B2M TGFBR1 KLLN RANGRF CD46 ADA2 FAM13A PSEN1 COX7B HRAS SALL1 MALT1 SCNN1G LMNA NDUFB11 YARS2 BBS4 ABCA1 SDHB PCCA SOX18 CEP57 GGCX KRT8 PPA2 TBX1 SMN1 DSP PIK3R2 TGDS SMAD3 MLX GPC3 PIEZO1 UBR1 NONO BIRC3 RNASEH1 KIT COL5A1 RHO RP1 TRNS1 CACNA2D1 STRA6 TP63 CASP10 PIGL EYA4 ATRX TERT WDPCP SLC40A1 NDUFAF4 SDHD DNAAF4 BAP1 PROC LMNA HMCN1 ARL6 EPB41 RDH12 NGLY1 POLG PSAP WAS GYS1 TXNL4A TRPM4 CTU2 ENPP1 TRMT10C LRP5 HSD11B2 NT5E RAB23 INPP5E DYNC2LI1 ARL2BP SPRY2 PNPLA6 GYG1 TBX1 ADAMTS2 NPC2 CYP7B1 PTDSS1 KIAA0586 CAV3 ERCC5 GBE1 ALG9 RNASEH2C ANKRD26 NRXN1 SLC22A4 FLNC CHRND NPPA BUB1B TAF1A SMPD1 SCNN1G EDA GATA6 BCOR DMD MYH7 PET100 SF3B4 TRAIP CACNA2D1 SCNN1A EOGT ASS1 ALG10B PSMD12 BMPR1A DNAH9 RAI1 PIK3C2A RAG2 CDAN1 PRPF8 CACNB2 NDUFAF2 COG6 B9D2 RUNX1 PRCD SDHC MED12 DOCK6 IL12RB1 ISCU TPM2 ECHS1 RNF6 ACADS CWC27 CD247 RNU4ATAC IGH TMEM126A ATP6V0A2 IARS2 TRPM4 COA8 POMK LIPN ZNF408 ACVRL1 VPS33B KCNQ1 ERCC2 LMNA FOXE3 RECQL4 SMAD4 TPP2 RNU4ATAC SLC52A3 PCCA SOX4 ND2 KCNQ1 GATA6 SH2B3 PDGFB PIGM MIF C1R ND1 NDUFA2 BBS7 COQ2 SIX3 POU1F1 SFTPB EXT1 NOS3 GATA6 ATAD3A CHD7 SMAD4 CRB2 DOCK8 TAZ DVL1 LETM1 FKRP FGFR2 ATP6AP2 CR2 ARID1B LRIG2 GNAI3 MYH6 AKR1D1 HNRNPA2B1 PDSS1 NHLRC2 GPC4 DCLRE1C TOP3A CPN1 LDLR KRIT1 NEBL TMC8 MRAP DUSP6 TMEM94 COG4 KIAA0319L SLC52A2 SDHD EPHB2 GNAI2 SMARCC2 ALOX12B AGGF1 GPR101 POLR3A SMAD3 GJA1 GPI ITGA3 CFI TGFBR2 ALG1 TWNK RAD51C DNAI2 MINPP1 APOA1 MTFMT ITGB3 FCGR2C WWOX AFF4 FLNA SEC23B SCN3B ABHD5 MED13L GLA NDUFAF1 SETD5 DYNC2LI1 TCOF1 CALM1 KCNJ11 MAP2K2 PIK3R1 CTSK KLF1 VHL ATP6 CST3 IL6 TBX19 RAD51C DDX59 RMRP POGZ DNAH11 ANK1 PDGFRB LRP5 COL5A2 DNAH11 RPL35A TRAPPC11 NT5E APOB PDE6D PAX3 KCNQ1OT1 ACAD9 FANCD2 SLURP1 GAS1 BMPR2 SOS1 NEXN MYOZ2 RFC2 TKT KCNE5 TGFBR2 PTEN PKP1 WIPF1 IL7 HIBCH TNFRSF1B LBR GJB6 SLC37A4 FBP1 TERC SRY RPS6KA3 IDS IL17F MEFV FIBP MPLKIP RPGRIP1L GP9 SCNN1B DCDC2 KIAA1109 AIPL1 HLA-DRB1 SMCHD1 RET GFI1B COG2 FGFR2 TRNK SEMA3A GBE1 TAF2 ACTC1 COL1A1 SOX5 LYST NAA10 PLP1 FANCA NSMCE2 CYBC1 HLA-DPA1 LBR ANKRD11 IDUA UVSSA GNB5 DPM1 TAPT1 CLCN7 CLCF1 MKS1 SPARC ATP6 ARX BBS2 DNAAF2 PLVAP IL7R SMG9 BBS2 TSC1 FUT8 WT1 NPHP1 HLA-DRB1 TNNT2 BRAF SLC29A3 TTN NSMCE3 NMNAT1 ACTA1 TACR3 AKAP10 ITGB3 ND4L FRA16E RAB23 PDSS2 NDUFV1 SMOC1 SCN4B CERKL PLD1 CSRP3 PTPN11 RNASEH1 GLI3 ABCA1 RASA1 NRAS PLIN1 TP53 ALPL IGHM SDHB PALB2 TRIP11 SMAD4 TNPO3 GBA FECH ABCD4 ADD1 ZNF469 TREX1 HOXA13 IGF1R AIRE KCNE2 GUCY1A1 HPSE2 TSC2 GGCX ABCC9 ANO10 UCP2 MCM4 DOLK DCTN1 ERAP1 MSH6 COPA PEX12 F13A1 VEGFC HRAS PIGO SLC25A24 SOX10 KCNE3 BRAF CRYAB TERT BIN1 CRX HBG2 EXOC6B KLHL7 POLR1C TNNC1 ALMS1 NLRP3 ITGA8 CHRNA7 LIPT1 KIAA0556 KDM6A ERCC3 PQBP1 BBIP1 EVC CTLA4 BANF1 CDK10 CHST3 FTL GNE BRCA2 AHI1 GNAT2 SCARF2 EDN1 KCNH2 DHX38 HLA-DRB1 PGAP3 DNAAF3 GPC4 KRT5 POMT1 HLA-DRB1 SCN5A TXNRD2 TET2 GATA6 ACAD8 MVK EOGT ND1 ADAR PDE8B DNAAF6 EPHB4 DMPK TPM2 SDHA NPHP1 FRAS1 GCH1 FGD1 C4A PSAP COA6 AGPAT2 SOX2 BMPR1A USP9X NFKB1 FANCC IL2RG MEFV PKHD1 ZNF423 KRT14 MVK RB1 CITED2 EXT1 PLN GJB2 UBE2T NKX2-5 SELENOI DNAH9 SCN4B GMPPB COL2A1 FERMT3 SCN5A BCOR ND1 TNNT2 GAS2L2 MTM1 RECQL4 GPD1L ARPC1B SPINK5 ERCC4 B2M ZNF513 MMP2 GATA4 COG4 BRCA2 FHL2 PKD1 BSCL2 PLEC WT1 HYMAI TAB2 CASR MYLK KCNN3 TCTN3 MAP3K7 TRNQ TBX1 TMEM216 RORC FOXE3 LAMA2 ADK MBTPS2 WT1 KYNU ECE1 FLNA PLOD1 PDE11A KLF1 TCIRG1 NKX2-6 NR2E3 SOX4 COL7A1 IFNGR1 CPT2 GLI3 PLAGL1 CDKL5 SUFU PRCD SCNN1B FOXA2 PTGIS FOXF1 SCN5A C12ORF57 NDUFA11 DGCR2 FBN2 PORCN SDHB ASAH1 PKD1L1 TRIM28 SLCO2A1 PUF60 KIF7 BMP2 BRCA2 NDUFS2 RP2 STEAP3 FIP1L1 NDUFS2 PRF1 CITED2 NDP KCND3 TMEM107 NPM1 ITK TNXB NTRK1 JAK2 COL6A1 CASQ2 AMMECR1 COX20 AIP PRPH2 ATP7A FANCI NKX2-5 PHKG2 ACTC1 TGFB2 ITGA2 CIZ1 ARMC5 ALX1 NUMA1 CDKN2A FUCA1 AIP NRAS RIPPLY2 TSFM PRRX1 NEXN FBN1 FGFR1 CA2 KLF13 SACS SPTB SNIP1 SOX11 REST VHL HEXA AKT2 CAPN5 TNFRSF11B EED GALNT3 XPA FGFR3 GPD1 CORIN NEU1 SERPING1 FANCA LAMB3 CD79B PEX6 PRDM16 LYST FOXE3 GNAQ FOXRED1 DTNBP1 PAX8 CCDC174 PIEZO2 BGN HADHA CYP17A1 GATA4 GATA4 HBB THOC2 RARB FGF23 TCOF1 ARMC9 ANTXR1 COG1 KRIT1 TACO1 ELOVL4 AP3B1 GATA2 CEP41 ATM TNNC1 PRKCSH AMMECR1 FASTKD2 CCDC151 HBB NDUFA6 GBA CACNA1S JAK3 SPTB CDKN1A TP63 ACTC1 ALOX5AP ALDOB RSPH3 TRIM28 NDP EBP BEST1 CCN2 FGFR2 LEMD3 PTPN22 PDCD10 KAT6B NSD1 SP110 AGL ZEB2 SP7 TRNC ACTA2 PCGF2 C4A CLIC2 NDUFA13 PRKACA CD27 FANCC IDH2 EVC2 NDUFB9 LPIN2 TCAP MEGF8 RREB1 TTPA PEPD RNU4ATAC STK11 TGFBR2 HESX1 PLAGL1 APC TET2 SDHA BTK DSP SCO1 HIBCH CANT1 PHKG2 CD81 WDR60 PIGY PHYH ATP6AP1 NLRP1 TMEM126B ATP6V1E1 MAP3K20 TNFSF12 KAT6B FLT1 ADA IGFBP7 KRAS CPLANE1 IFT43 CLCNKB DNAJC19 RIT1 GP1BB LDB3 NDUFA1 NSD1 CSNK2A1 SDHC LACC1 F13A1 RPL11 ND6 CRELD1 ABCC8 OTX2 WDR35 TARS1 TRNV ND4 MYH7 NDUFS8 NEK2 PLEKHM1 COL4A1 PHOX2B TRMU TACO1 DPP9 TNFSF11 SIX6 SLC19A2 IDH2 RBCK1 RAI1 CDKN2B ANK1 KRAS POLD1 CACNA1S LRRK2 MECP2 G6PD SCN3B LAT C1QBP ANGPTL6 TNNI3 PDE11A ATP6V0A2 LCAT SPECC1L APP FBN1 CASQ2 GATA1 PDGFB COL18A1 BRAF MGP TRNV NAGA LAMP2 AGA TPI1 GATA6 TAZ ABCC8 MUC1 AMER1 TBX1 HPGD MAP3K7 NDUFAF4 FGG CFAP298 CDHR1 ATP6 PROS1 GDF1 SLC18A2 NPC1 USP8 PGAP2 NEUROG3 CAV3 ABCC9 GATA4 ANTXR1 JAK2 FGFR2 VCL COL1A2 GP6 TALDO1 FHL1 ZFP57 PIGT ABL1 PPP1CB COL3A1 FANCM MAX NEXN IGHM BIN1 MITF RAF1 ZNF423 HJV KDM6A CFI POLH KLHL41 PGM3 IL12A PSMB8 PEX5 EGFR ARID1B CYP11B2 PDGFRB PNP DDB2 APOE CR2 NCAPG2 ACADL KRT10 HADH RBM10 TRNF IFIH1 ADCY5 PEX3 DNAAF5 BRAF LRP2 DYNC2H1 COL6A2 F8 CD19 ACADVL ABCA4 TRIP13 AKT1 SLC2A10 CYBA TTC37 JAK2 NSD2 WDR35 GP1BB TP63 PDX1 TERC CD19 F13B NLRC4 FANCE PLIN1 IDH3B COL4A3 GPX4 BCHE CYP27A1 ABCA4 SETBP1 NDE1 DCLRE1C BAG3 FBN1 MCCC2 SMAD9 IL7R PIGO COL4A5 NOD2 ARFGEF2 TRDN FOXJ1 NDUFA10 MYH8 POR PIK3CA XYLT2 DNM2 TERC GNA14 KRAS SLC2A1 NSD1 ANK1 MAP2K1 CACNA1H FRG1 CACNA1S NAGA AKR1D1 WAS SHH SMC1A ADA2 NDUFS8 CRYAB LRRC56 RAB3GAP2 STAT4 NEK9 KDM5B ATRX EDA2R SOX3 MYH9 SH2D1A CCND1 RAD21 PEX19 HABP2 KLHL7 CDC42 NEB SCO2 MAPK1 CYP26C1 KCNQ1 KCNJ2 JUP HOXA1 ANKRD11 LMNA EPCAM NR0B1 DVL1 ELP1 HSPA9 PEX7 ABCC9 DKC1 ROR2 NR3C2 GLB1 IRAK1 DGUOK ENG BCR MECP2 PHKA2 FN1 SLC7A14 MC4R MAN2B1 POMT1 PIK3CD ARL13B CCDC8 HTRA1 CALM1 IVD ITGA7 IKBKG TERT RBM8A PHF21A NFKB2 AVPR2 MPL RPL18 GPC6 CLPB FLNA TP63 TRIM37 PORCN COQ2 ADGRE2 TTC8 NDUFV2 ANTXR2 PHGDH FGFR1 C8ORF37 SF3B1 COL4A1 SCNN1B DOLK SLC25A11 TP63 XRCC4 TMEM43 FOXC1 PRKCD CCM2 PTPN14 COQ2 PIGA MPL LRP5 HMGCL ZMPSTE24 NR5A1 TNFRSF4 CA2 IFT172 AP1S1 CIB1 KCNE1 HTRA2 DNAAF2 HGD SLC25A11 SCN5A SFTPA2 FBN2 MYH6 GNAO1 FBN1 ACTG1 NDUFAF5 RSPH1 TNNT2 SUMF1 SALL4 DNAL1 IRF6 UNG IL2RB RRM2B CEP290 PLN ALDH18A1 ERCC6 ALG8 MYOC POLR1A CFAP298 RBM20 GNPTAB TP53 MYPN PUF60 MANBA TRNF CYBA TBL1XR1 PEX5 UBE3A EP300 CTNNA3 ATPAF2 ACD EFEMP2 GLI2 PCCB RBPJ ICOS CTSA KIF11 PEX5 HYLS1 CEP104 AP1B1 MYLK2 OTC BPGM NKX2-5 PTEN LZTR1 HLA-DQB1 LEMD3 SLC4A1 FGB RYR1 SEC23A SPIB RLIM DGCR6 MST1 FGG TTR F5 CD28 RNF113A MGP RAF1 SDHA MAB21L1 MEN1 CEP41 ND5 MMEL1 SLC25A3 GJA1 POLG SCN4A SUFU ZIC3 HPS5 ADAM17 SOX2 RHAG BVES TNFRSF1A ATP7B HADHA MIB1 NFIA GJA5 HSD11B2 PEX2 FLNA MYPN ATP2C1 ACTN2 KCNH2 PROM1 INPP5E TCTN2 MAF ITPA PRPH2 BCS1L EIF2AK4 MNX1 NGLY1 LRBA POLG RMND1 VHL RUNX1 FANCD2 CLCN7 FLI1 DLEC1 MSH2 CCNQ FGFR3 SFTPC HMBS GNAS ZIC3 COQ9 JAG1 TULP1 APOE NDUFAF5 SMPD1 ITGA2B IDH1 CACNA1C SCN10A PEX11B SDHD KRAS NPM1 PRKG1 USP8 JAK2 MPL SRD5A3 FOXP3 SCNN1G TTC8 HSPG2 DDRGK1 PRKAR1A FGFR1 SGSH FGA NRL HPS4 BTNL2 CCDC40 ABCC8 PEX16 BTK DGCR8 KCNJ5 ACTC1 LEMD3 OTULIN PGM3 PSAP CAV3 SCN9A LMNA HLA-DRB1 COX3 FOXF1 FLNA RBM10 SLC12A1 DSP MASP1 TRDN CIITA LMNA INVS TOPORS MAFB ARX SOX9 DNAJC21 CD79B LIG4 FREM2 MAP1B SNTA1 BTNL2 DES GDNF POLG CUL3 AKAP9 ACTB TNFRSF11A ZBTB16 FOXRED1 HACD1 ERCC3 PIK3CA ABCC6 COX4I2 GATA5 TWIST1 RB1 BCOR STAT5B NLRP3 RPGR CSPP1 COL7A1 PHYH OTX2 HPGD KRAS AK2 CALM1 RASA2 SLC35A1 MS4A1 REN CCDC151 PEX6 PSMD12 POU3F4 IGF2 STOX1 RFWD3 GGCX HYMAI CYP21A2 IFT81 UROS LFNG HADHB NOP10 CSRP3 STXBP2 HLA-B COQ2 SUMF1 RAP1A HBG1 NHP2 GSN FZD2 NDUFS4 XK CCDC65 SIK1 GJA5 SLC25A20 SIM1 COL11A2 CRLF1 GBA GJB4 KCNMB1 GPD1L KIF7 SLC29A3 CCDC39 CRPPA GBA NAXD BMPR2 CFH CHST3 ITCH LRRC6 CFC1 PIGY HOXA11 MYCN NUP155 INTU MED13L HLA-DRB1 PHGDH TRIP13 NOTCH2 SULT2B1 TBX20 AICDA GLMN COQ4 COLGALT1 HAMP CC2D2A KCNE2 THOC6 ENPP1 PYCR1 ALPK3 FLCN MAX PALB2 MKS1 LPL PRPF3 CD46 IKBKG HCCS SDHD DIS3L2 PDGFB FHL1 RAG1 UMPS HDAC8 SPRY4 IL23R HCCS MRE11 CTLA4 ND6 SLC39A4 WT1 EPHB4 KYNU TTC25 MC1R ATP7A NOTCH3 TOPORS HLA-B MYOT LMNA KCNQ1 KBTBD13 ZAP70 ATP8 STAT3 FLT4 TAZ CC2D2A RPS15A NAGS ARMC4 DSG2 TGM5 F13A1 FADD TECRL CARD11 ATP6V1A OFD1 LRP2 RAF1 XYLT1 PRNP CTC1 SDHB FMR1 KIF1B MPL CD2AP CASR TRRAP SOX2 ICOS DCDC2 NKX2-6 PLEKHM1 SLC25A4 WNT10A G6PC PRKAR1A THBD CLIC2 RPE65 C1R BRCA1 SCN10A RPS19 NEK8 ATP6V1A ARMC5 PRRX1 DSG4 AIP PPA2 AHCY LTBP2 ALDOA COX3 POMT2 TMEM126B DPH1 VAC14 RAG1 LBR TAB2 NOS2 PRPF3 GATA5 FAH CYP11A1 IL36RN TANGO2 CCDC39 NPHP3 NLRP3 COL4A3 GATA6 ACTA2 WNK1 ADAMTSL1 XPA UBAC2 COL1A1 TINF2 PPARG SDHB AKT3 PDCD10 RAG2 ND2 CTNNB1 PRPH2 NPHP1 PET100 SCN1B FKBP14 LMNA SARS2 ERMARD PDE6G RECQL4 SAG FGA GMPPB GUSB SLC25A3 XPC SP110 PRKCSH TET2 PTCH1 FBP1 GATA1 ABCC9 POLH RHOH AGTR1 GNB3 GUSB EPHB4 TBC1D24 SPAG1 DNAJC13 NIPBL TNNI3 ND5 JAK2 CRELD1 DPM3 CDKN2B F2 DSG2 CDON GNPTAB SBDS RASGRP1 NSDHL FKRP ENG SURF1 COLQ TBX5 EYS SLC19A3 MPL WNT4 HSPG2 PEX19 SMC3 FN1 GPC1 BMPR1A FGFR3 SCN5A ENG CPT2 CTSB COX15 DYRK1B NOD2 FANCF ND2 TRPV3 HEXB CRYAB RPE65 LARS2 GLRX5 MYLK FKRP SURF1 IL12B IFIH1 PLOD1 TRPM4 TMEM43 MLXIPL BRAF DHCR24 DPM3 POU6F2 SFTPA1 HCN4 PRG4 MYH7 LIG4 AGXT CEP290 SHANK3 BRAF SAMD9 ABCD3 SCN5A ELAC2 NDUFS2 SDCCAG8 COQ2 SEC23B MUC5B TGM1 APP CLN3 XPR1 YY1AP1 KRAS PPOX DNAAF4 CLCN2 SLC17A5 IL12A-AS1 THPO ND4L FH IDUA HSD17B10 ADAMTS10 FXN SAMHD1 SPTB RPS26 RPS27 ASCC1 TCF3 SLC29A3 JUP MYBPC3 F9 LAMB2 ALOXE3 CLEC7A FXN SKI GPC3 BCL11B ITGA2B CST3 SERPINC1 MGAT2 TWNK MEIS2 HFE DVL3 SLC20A2 PIEZO2 NDUFB11 MPL NUP107 NDUFA10 CHKB GP1BB APP FGFR3 PACS1 DMD CYP11B1 TRNK IL1RN CEP120 WNT5A MYH11 RAD51 SCYL1 NDUFS1 ADAMTSL2 SKIV2L WDR11 ZDHHC9 PPARG KIAA0753 CAV1 PRF1 CSF2RB SC5D PDE6A KCNQ1 RBP3 POLG RTEL1 VHL NSMF EMD TDP2 TK2 RNF125 BRAF ASXL1 SCN5A FOXC2 FIG4 TP63 PCSK9 INTU IMPDH1 TERT ANKS6 SYNE1 NIPBL COL4A1 ARX IFT80 PTPN11 ARSB HAAO HSD3B7 VHL CEP120 GDAP1 ASAH1 STX16 RPL5 LDB3 GATA6 RRAS SPECC1L HCN4 SERPINC1 F11 UNC13D DOLK LIMS2 GDF6 RPL35 TSC2 IL12A KLRC4 LMNA CTCF TBX1 FOXRED1 ADAMTS3 PLG EPB42 USP9X GLI3 GJA5 SMAD4 KCNJ5 WT1 ELANE CEP290 NLRC4 FANCB RPS15A NDUFB11 SNTA1 SYNE2 XYLT2 ELN CREBBP ATF6 CYP11B1 PMPCA ETHE1 KCNJ5 ANTXR1 BAZ1B TNNI3 EHMT1 KRAS ARHGAP31 COA8 NBEAL2 MED12 RGR KCNQ1 NXN COL2A1 FHL1 LMNA NEU1 RERE DACT1 GDF1 UBE3B HTRA1 FGFR2 NME8 AQP2 IL17RC FAN1 PIGQ CBL PROP1 HK1 SMC3 BMPR1A ABCA12 CFB ITGA2 FGG PMM2 ABCC6 MARS2 TERF2IP TNFSF12 KDM6B MDH2 PIGP MKS1 FMO3 PCNA TTC7A SLC39A4 SGCD IRF5 NLRC4 CTNS SLC4A1 RPL10 SLC25A26 PKLR TNFRSF13B DEAF1 COG8 NEUROD2 MRPS16 COL1A2 KRAS SAMD9L LDB3 NDUFS2 OFD1 KCNQ1 FBN1 LMX1B FBLN5 PTEN TRIM32 PEX26 LRP5 ROM1 RRM2B TWIST1 COL25A1 WNT10A AMMECR1 COG4 HLCS HCN4 NR2F2 TSC2 MYLK LRAT WFS1 ND6 SRY SMOC1 FAM149B1 PLEC TPM3 KRT9 ACTA1 SETBP1 OTX2 CEP164 BBS2 RTEL1 PIK3CA AP3D1 MBTPS2 H19 FMR1 CCND2 BBS12 TJP2 TEK FIG4 ABCG5 ABCC9 CACNA1S USH2A GDF2 SOX18 CYBB C8ORF37 RYR1 GAA OTUD6B RAG1 PTH1R TNNI3K CYP17A1 COL4A1 TRNS2 ERF ERBB3 TNNT2 TF CAV1 PEX1 TFRC ARL6 C1S PIGT PRDM16 SEMA4A KIT PPP1R15B PRKAG2 PCNT HDAC4 A2ML1 CHD7 LMNA HYLS1 KCNJ2 PEX2 CTLA4 CEP120 CTLA4 XIAP TRNS2 LIPA TMEM67 BCL6 EPB41 RNF135 FHL1 IGLL1 FBN1 KCNJ8 GALE NDUFAF1 CCDC28B CFHR3 MED12 POMT1 TRIP4 IRF8 PEX12 DHCR7 TLR4 ACTA1 PIGN PRKCD PROKR2 AKT3 C2 SLC12A3 SDHA CD109 RHAG LAMC2 XIAP ASXL2 CDKN1B CHD7 IGH AGTR1 FLNA SNRPB WNT3 LAMA4 CHRNA7 HADH NOTCH3 TBX6 STING1 PEX6 CD40LG ZMPSTE24 SEC23B RAB27A ABCB6 GATA1 NBEAL2 SEMA3E GPIHBP1 EXT2 PEX19 NRXN1 WIPI2 HADHB PALB2 UROS CHD7 CTNND2 BRIP1 TCIRG1 SOX3 AQP5 TBX1 MYL4 VWF DNAJB13 CPT2 RPS28 FSCN2 KCNE1 NDUFS8 ABCC6
Neoplasm of the pancreas
Genes 105
MGMT BRCA1 MLH1 PMS2 RAD51C TERC CDKN2B PALLD TSC2 CHEK2 SMAD4 NTHL1 RAD51D CTC1 MSH6 NOP10 KRAS NHP2 BAP1 PDGFRB FAN1 KRAS BRD4 RNF43 CDKN2B TP53 MSH2 CDKN2A SPINK1 RTEL1 CDKN2C VHL PIK3CA CDK4 PARN BRCA2 KRAS TERF2IP CHEK2 CDKN1A RPS20 BRCA1 USB1 PRKAR1A POT1 TERT APC CDKN2A CCND1 STK11 TP53 COL14A1 NUTM1 MDM2 TSC1 BRCA2 SLC12A3 EWSR1 CDC73 CDKN1B ACD CDC73 BRIP1 MRE11 GCGR TP53 STK11 EPCAM MEN1 NPM1 WRAP53 TGFBR2 SEMA4A TINF2 MITF BMPR1A TP53 NOTCH3 DKC1 BARD1 AAGAB SMAD4 RAD50 STK11 NBN MLH3 PALB2 PALB2 CDKN2A WT1 BRCA2 MAFA MC1R MEN1 RAD51 CDC73 CLCNKB TP53 CDKN1B FLI1 PTEN PMS1 CDKN2A TERT APC
Disseminated intravascular coagulation
Genes 20
RARA HELLPAR IRF2BP2 SERPIND1 ZBTB16 NLRC4 NPM1 CFI NABP1 PML CFH BCOR PRKAR1A TBL1XR1 CD46 STAT3 STAT5B PROS1 FIP1L1 NUMA1
Pinealoma
Genes 1
RB1
Astrocytoma
Genes 27
TSC2 APC MSH3 BRCA2 MLH1 TSC1 PMS2 APC IDH1 MSH6 POT1 TSC2 CDKN2A NF2 IFNG MSH3 APC TSC1 NF1 APC TP53 MSH2 ERBB2 IDH1 APC IDH2 NF2
Ovarian neoplasm
Genes 86
VAMP7 ZFPM2 CTNNB1 PTEN AKT1 WT1 FGFR2 AKT1 OPCML SOX9 BRCA2 BRCA1 PTEN MLH1 SUFU EWSR1 PMS2 IDH1 LMNA RAD51C RAD51C STAG3 GATA4 PALLD PIK3CA CHEK2 BRIP1 MRE11 FGFR2 TP53 RAD51D PRKN MSH6 EPCAM WT1 NR0B1 WT1 KRAS DICER1 TGFBR2 IDH2 SRY BRCA1 FAN1 DMRT3 MSH3 TP53 KRAS NR5A1 INHBA RNF43 KEAP1 DICER1 BARD1 SMAD4 RAD50 MSH2 NBN WNT10A C11ORF95 MLH3 PTCH2 CDH1 WRN PTEN PALB2 MAP3K1 PIK3CA RELA MAP3K1 PALB2 WT1 PMS2 BRCA2 PTEN BRCA1 RAD51 BRCA1 BRCA2 PTCH1 FLI1 PTEN PMS1 PTCH1 CDKN2A WWOX
Obesity
Genes 465
PDE6A IDH3A ALG13 CANT1 PRKAR1A WDR34 PCARE EIF2S3 RP1 CTSH RAI1 LZTFL1 MTFMT TTC8 PPARG ANOS1 IQSEC2 IQSEC2 C8ORF37 TMEM67 RNPC3 MKRN3 FLRT3 MYT1L SNRNP200 BBS4 IFT172 CEP19 PROKR2 EMD EYS SLC25A4 LEPR KIDINS220 THOC2 PCSK1 PRPF4 ARL6 USP9X RDH12 IGF1 IFT172 ARL3 SOX10 PDE11A FGFR3 NR2E3 CUL4B RAB23 PAX6 ARL2BP DYRK1B GNAS PRPF31 PNPLA6 PRCD RLBP1 FTO KLF11 TBX1 BLK INPP5E HIRA CYP7A1 TMEM43 DHDDS BBS5 MLXIPL LEP CLIP2 WNT4 IFT140 RP2 REEP6 EP300 FHL1 PDE4D SH2B1 CNGA1 CNNM2 PAK3 TNFSF4 IQSEC2 SDCCAG8 MOG TRAPPC9 SDC3 HLA-DQB1 TBL2 POMC ALMS1 PTCHD1 PRPH2 PSMD12 SH3KBP1 SNORD115-1 HSD11B1 ARVCF PRPF8 POMC GUCA1B ATRX SEC24C POMGNT1 ZNF365 SUFU ARMC5 CLCN4 HACE1 RBMX KIAA1549 SLC9A7 SH2B1 IFT27 GNAS EIF2S3 JMJD1C FGF17 COMT MKS1 ZNF81 HERC2 SKI CYP19A1 MKKS SOX2 SLC7A7 GTF2I AKT2 MID2 SIM1 SMARCB1 DNMT3A ENPP1 PRPF6 ZNF408 PRDM16 FGFR1 PROM1 ERMARD BBS10 AIP NPAP1 BEST1 GATA4 BBS1 TUB P4HTM TBX3 KMT2A BBS7 GABRD GP1BB WDR11 RP9 GNAS XRCC4 PAX6 SDCCAG8 RBP3 ADRB3 GNAS PAX4 NSMF NPHP1 RAI1 ATP6AP2 GNAS-AS1 USP8 MAK KCNJ18 CCDC141 IMPDH1 PDSS1 NIPBL ADNP DPYD SETD2 NR0B2 MED12 NDN FAM161A HESX1 NRL BBS10 GHRL DUSP6 LAS1L MKKS P2RY11 BBS5 MEGF8 ZNF711 RREB1 H6PD HESX1 SIN3A CNKSR2 KIDINS220 BBS12 FRMPD4 IFT74 TRIM32 BLK AFF4 POGZ ALB GABRA3 TSPAN7 SLC10A7 SYNE2 CREBBP GNAS RPS6KA3 OFD1 IFT172 APC2 PRKAR1A RPGR BBS9 SNORD116-1 IL1RAPL1 OTX2 NSD1 HACE1 PCSK1 FGFR1 SETD2 BAZ1B EHMT1 ZNF41 INS PROK2 POU3F4 IFT88 PDE6B GNAS ABCC8 RGR ARL13B KMT2D GHR GNAS NEK2 RFC2 CA4 LIPE RERE MAPK8IP3 RHO SCAPER BPTF RAP1A DLG3 BBS9 PCNT LEP IGFALS CRB1 RPS6KA3 TBX1 NEUROD1 CEP164 GTF2IRD1 SIM1 MECP2 ARX SMC3 PHIP TRIP12 CARTPT NTRK2 HDAC8 AGTR2 SEMA3A BRAF AHR PWRN1 OFD1 SETD5 ADNP LZTFL1 PROK2 KISS1R CEP290 HS6ST1 CDHR1 DEAF1 MAN1B1 RAP1B CTNNB1 USP8 BBS2 GCK UPF3B ELN MAN1B1 PTEN TRIM32 MKS1 ROM1 BBS2 LEPR KCNJ11 MRAP2 PRPF3 PDGFB LRAT TRAF3IP1 HDAC8 SPRY4 ELN SRY FEZF1 VPS13B TACR3 KIF7 TAF1 RAB23 FOXP1 HDAC8 CERKL CLRN1 AGRP BBS2 MOG TOPORS ARNT2 ARHGEF6 FMR1 USP27X SHANK3 XYLT1 VPS13B SMAD4 UFD1 EGF UCP3 BBS12 IFT172 SNRPN CACNA1S USH2A HNF1A ACADVL ADRB2 MEGF8 C8ORF37 APOE WDPCP IGF1R CCDC141 NIN IPW MAGEL2 GDI1 NF2 HGSNAT ARL6 HUWE1 SEMA4A EHMT1 SYP IDH3B PRMT7 CEP290 PCNT SH2B1 HDAC4 ADCY3 TTC8 CHD7 AKT2 ABCA4 LMNA HCRT MC4R DMD ZNF513 CRX SYNE1 XYLT1 BDNF TBX3 MC3R KLHL7 DCC SPG11 TTC8 POMC ALMS1 FTSJ1 PDX1 KDM6A LIMK1 BBIP1 BBS7 RPE65 CCDC28B EXOC6B BBIP1 AHI1 ARMC5 AGBL5 PDE4D TULP1 SMC1A DHX38 CEL ARL6 MAGEL2 PROKR2 HLA-DRB1 MKRN3-AS1 SHOX RAD21 IMPG2 ZNF711 C8ORF37 IFT27 PWAR1 PNKP FGF8 HNF4A CDH23 BBS1 WT1 GNAS MTTP ZBTB20 KIZ APPL1 FLII IL17RD SPATA7 MERTK TCF20 MECP2 CXORF56 LMNA BBS4 SLC7A14 SOX3 MC4R LAS1L KCNAB2 CUL4B PDE6G ARHGEF18 SAG RAB39B STX16 UBE3A ACSL4 TBX1 MCM3AP TUB ATRX FSCN2 PHF6 TRAPPC9 PHF6 WT1 CNGB1 HCFC1
Myocardial infarction
Genes 79
IL12B TLR4 LDLRAP1 LDLR GTF2I GLA APOB STAT4 CCR1 BAZ1B IKZF1 TP53 SH2B3 CLIP2 ABCG8 CYP27A1 MYH9 CTNNB1 HLA-B AGPAT2 ELN FOS RFC2 ENPP1 CAVIN1 ERAP1 MEF2A MYH9 BCHE CAV1 MEFV LRP6 LMNA HLA-B LPL THOC2 CYP27A1 KLRC4 TET2 IL10 SCNN1B UBAC2 CEP19 HLA-B PIGA TBL2 CFTR RAF1 MPL BRAF C4A GTF2IRD1 IL12A-AS1 CALR IL12A IL23R JAK2 SCNN1A ABCA1 WRN JAK2 SCNN1G HGD PTPN11 MEFV BSCL2 CBS LIMK1 ABCA1 DYRK1B BRAF SLC2A10 SH2B3 PPARG PCSK9 FAS ABCG5 MLX ABCC6
Hypertension
Genes 410
GPC3 MPL PRKAR1A ABCG8 ND1 CYP11B1 TRNS1 B2M MMP2 BRCA2 SDCCAG8 HMBS LYZ PKD1 C8ORF37 BSCL2 WT1 SCNN1B SLC25A11 COX2 CEP19 TRNQ YY1AP1 ECE1 WT1 KCNJ5 ENPP1 FN1 PDE11A HGD SLC25A11 HSD11B2 MFAP5 GUCY1A1 DYRK1B SPRY2 SLC2A10 SMAD6 COX3 SCNN1G SCNN1B LARS2 FOXF1 NPHP4 TRNL1 TMEM67 IL12B HIRA TRIM28 MLXIPL CDH23 CLIP2 HLA-B TRNF POU6F2 NFU1 SDHC CEP290 ENPP1 EDA CYTB SDCCAG8 HLA-DPB1 SCNN1A NKX2-5 COL5A1 LEMD3 YY1AP1 TBL2 ALMS1 NOTCH3 CLCN2 ARVCF SEC24C CFH FH TGFB2 TMEM127 ARMC5 AIP SDHA JMJD1C COX1 ND5 COMT NF1 CACNA1D TGFBR1 REST LDLRAP1 GTF2I PDE3A TNFRSF11B MAT2A HSD11B2 TRNH CORIN SERPINA6 BBS10 AIP MAFB FOXE3 SCN2B SMAD4 CYP11B1 TRNK SLC52A3 TRNL1 CYP17A1 GBA SDHB BBS1 HBB CCR6 XPNPEP3 ERCC4 VHL BBS7 GP1BB TRNE OSGEP PPARG NOS3 TRPC6 HMBS JAK2 VHL KRT18 TRNS1 WT1 NPHP1 SDHD INVS KCTD1 OFD1 USP8 FIG4 TRIM28 LRIG2 PCSK9 SDHB SCNN1G CCN2 COL1A1 TRNL1 WT1 PTPN22 LDLR PRKAR1A COX1 VHL TRNC COQ7 LEMD3 PRKACA MKKS BBS5 SLC52A2 SDHD TRNW COX3 RREB1 GPR101 SMAD3 INVS KIF1B DNAJB11 COX2 APOA1 RET ARHGAP31 KCNJ5 WT1 ND5 GDNF CUL3 GLA FLT1 ACVRL1 TNFRSF11A VHL GNAS PRTN3 COL3A1 ABCC6 XYLT1 CYP11B1 ADAMTSL4 FGA C3 COL5A2 BBS9 ERCC6 KCNJ5 FBN1 APOB BAZ1B PAM16 POU3F4 TMEM70 ND4 STOX1 GNAS RFC2 TGFBR2 CALR IQCB1 CYP21A2 MMP14 SLC37A4 ALX4 TRNQ TBX1 THPO GTF2IRD1 GATA5 ND6 FN1 RPGRIP1L CFB ANGPTL6 RET XYLT2 VANGL1 NR3C1 PDE11A NR3C2 POR TRNK BMPR2 MGP TRNV SUGCT RET MYH11 PRKAR1A MDH2 FMO3 KLHL3 WNK4 TMEM237 LZTFL1 TRNK IRF5 STAT1 NSMCE2 MUC1 COL4A4 HLA-DPA1 GLA IDUA NOTCH2 TRNW CC2D2A SCNN1A NR3C1 CPOX USP8 BBS2 ELN CYP11B2 SMARCAL1 LMX1B BNC2 TRIM32 MAX MKS1 PKD2 LRP6 PRKACA COL3A1 SDHD NPHP1 MAX PRKG1 MYLK HLA-DRB1 DIS3L2 CFI LMX1B ACAT1 ELN EGFR ND6 ELP1 ELN SLC37A4 PPARG CEP164 LMNA PLIN1 DLST TP53 TRNF SMAD4 LOX UFD1 FMR1 SDHB NOTCH1 SMAD4 BBS12 IFT172 ABCG5 MYMK CFHR1 TRIP13 SLC2A10 GJA1 WDPCP FUZ CYP17A1 TRNS2 WDR35 MYH7 SDHAF2 LMNA NPHP3 GUCY1A1 EXT2 HPSE2 OFD1 LMNA FGFR2 MEF2A PLIN1 COL4A3 CEP290 ACTA2 KIF1B CD2AP TGFB3 FBN1 TRNS2 SH2B3 COL4A5 NOD2 SDHC PDE3A G6PC THBD FBN1 CAV1 TTC8 ALMS1 ITGA8 LMNA GANAB LIMK1 BBIP1 CTLA4 BANF1 CCDC28B CFHR3 FBN1 H19 CACNA1H ARMC5 AIP CCND1 ADA2 ARL6 EDA2R CBS SH2B3 TET2 CACNA1D ADA2 ND1 VAC14 IFT27 PDE8B CYP11B1 TRAF3IP1 CDH23 BBS1 TMEM127 COL4A3 GNAS ELP1 ACTA2 NPHP1 MTTP WNK1 WDR19 ZMPSTE24 CD46 GCH1 KCTD1 ADA2 ABCB6 ACTN4 NFIX ENG TGFBR3 ABCC6 WRN LMNA BBS4 PKHD1 FGFR2 MC4R ERCC8 KIF1B KRT8 TBX1 JAK2 PHF21A MLX ABCC6
Glioma
Genes 50
TSC2 GLI3 BRCA2 TSC1 LRP5 MLH1 PMS2 APC IDH1 MSH6 POT1 TSC2 CDKN2A NF2 MSH3 MSH6 APC NF1 EPCAM TSC1 TGFBR2 SEMA4A IDH1 IDH2 FAN1 APC MSH3 BMPR1A KRAS MLH1 MSH2 C11ORF95 PMS2 MLH3 PIK3CA NBN RELA SETBP1 IFNG RPS20 NF1 PMS1 CHEK2 APC TP53 MSH2 NBN ERBB2 APC NF2
Hearing impairment
Genes 2020
ALG13 LETM1 UBR1 FAT4 TGM1 ESRP1 RNASEH1 TRNS2 ORC1 RHO KCNJ10 RP1 HGF TRNS1 PIGL EYA4 GLI3 CATSPER2 PAX3 NDUFAF4 SDHD LRP4 DNAAF4 NDUFB10 MYH3 FAT4 SLC18A3 EPS8L2 ARL6 RDH12 ARL3 PSAP TXNL4A GJB2 TAC3 GRAP RAB23 ARL2BP ASXL1 PRPF31 PNPLA6 GBA2 POLG IGF1 PTDSS1 MYH14 ERCC5 CCDC50 HIRA SLC19A2 GAS8 SIX1 AIFM1 CEP57 SOST MCTP2 NRXN1 COL11A1 PNPLA8 CLRN1 COL4A6 KCNH1 RAB3GAP2 COL11A1 BUB1B TAF1A OPA1 SEMA3C NECTIN1 MFN2 NEFL LHX1 HLA-DPB1 KAT6B DNAAF1 NDUFS1 PCLO PET100 SF3B4 LAMB1 ARSL PSMD12 NOTCH3 RAI1 YAP1 PIK3C2A PRPS1 TMC1 PRPF8 EYA4 B3GLCT PDZD7 NDUFAF2 CLCN4 SH3TC2 ESRRB SDHC CERT1 GJC2 MRPS22 ECHS1 COL9A3 HSPD1 LONP1 KIT GTF2I CDC45 MID2 TMEM126A IARS2 TMIE COA8 FAM20C RET PRPF6 RPS26 ZNF408 KCNQ1 TRMU ERCC2 PEX1 GABBR2 RECQL4 MED12 BEST1 SLC52A3 ND4 SDHA ND2 DCHS1 POLR1C DPF2 BBS7 ACY1 TRNE EXT1 CLPP FGFR3 CHD7 IGBP1 SRP72 UFM1 BRCA1 ANOS1 LETM1 NDUFB8 WNT10B KCNC3 TRPV4 TMPO GJB2 MAK ARID1B GNAI3 GATA3 MYH6 HARS1 COX15 DAB1 GPC4 ERCC5 MED12 CDH1 DLG1 FAM161A HESX1 LRRC56 RPS23 NEBL NOG DUSP6 NDUFA12 EDN3 MFN2 FGFR3 SEM1 TBL1XR1 SLC52A2 MRAS SMARCC2 GTF2E2 PIGA TGFB1 CNKSR2 GJB2 ATRX TWNK DNAI2 SLC44A4 MTFMT APC AFF4 FLNA TFAP2B ABHD5 SOX10 ALX3 SPATA5 GLA CCDC114 NDUFAF1 TCOF1 KCNJ11 CDC45 STRC TRNK ATP6 RAD51C POGZ HYDIN IL1RAPL1 DNAH11 FRG1 PSEN1 NDUFB3 SON ERCC2 PDE6D PAX3 NSMF FANCD2 LMNA KMT2D GJB6 SOS1 NEXN TBX15 ATRX RFC2 NDUFS3 PIK3CA EDN3 RSPH4A PTH1R TRNQ TRNN IDS MFN2 ALG12 GDF6 FIBP FANCI ATP6V1B2 FGFR3 TNFRSF11A COL11A2 SMCHD1 RLBP1 NSD2 ANKRD1 MAD2L2 EDC3 FGFR2 AGTR2 TRNK ERCC3 SEMA3A ORC4 AHR LHX3 ACTC1 DMP1 FGF3 LARS2 RDH12 CDH23 PEX14 FGF10 FANCA USH1C COL4A4 HLA-DPA1 IL17RD TARDBP ANKRD11 PSMC3IP SLX4 IDUA STAG2 PDZD7 TRNW CLCN7 EPS8 BTD GJB3 SIX5 FLNA ATP6 BBS2 BTD GBA2 TRNE CISD2 LSS DNAAF2 CDH1 KMT2D NF2 PPP2R3C EDNRB BBS2 SOX10 MICOS13 TPRN SLC25A4 PERP NALCN BRAF SLC29A3 ELN TACR3 COL11A1 NDUFV1 CERKL FGFR3 ACSL4 PTPN11 SKI IFT140 FARS2 SHANK3 USH1C DCC VPS13B SDHB SMAD4 MORC2 TWNK DLX5 SNX14 USH1G AKT1 ZNF469 SNAP29 CCDC141 SNAP25 ND3 POLG2 ERCC6 INS PLXND1 NDUFS7 BUB1 TELO2 HGSNAT ST3GAL5 FGFR1 SYP CEP290 PEX12 EIF3F FOXI1 EYA1 GJB6 PIGO SLC25A24 PAX3 SOX10 DMD GJA1 KCNQ4 ITGB3 CRX KLHL7 POLR1C TNNC1 SCN1A ALMS1 AIPL1 FTSJ1 FGFR3 GLB1 PEX5 KDM6A ERCC3 NARS2 PQBP1 BBIP1 CTLA4 MYPN FLRT3 ZBTB20 TRNS1 BRCA2 TWNK AHI1 ANKH FLNA NDUFS3 AGBL5 EDN1 AKT1 MAP3K20 DHX38 CCND1 PBX1 KIF5A TWIST1 DNAAF3 ERCC5 EDNRA TXNRD2 PRRT2 TINF2 CEP250 DNAJC19 MTHFD1 MITF PEX16 ND1 NEDD4L IFT27 SUCLA2 CABP2 TP63 COL9A2 PEX14 BBS1 PEX2 MYH9 PEX1 NKX2-1 GNAS ARID2 RNASET2 ZBTB20 PIK3CA COL1A1 FRAS1 GCH1 KIZ FGFR1 SF3B4 FLII REV3L NFIX SPATA7 SOX2 USP9X TWIST2 FANCC COLEC11 CNTNAP2 TRAPPC11 SOST PROKR2 VPS11 CASK NTNG1 PAX1 PRKAR1A VCL MRPS2 SQSTM1 TRNT1 PLN PMPCB EYA1 MYO6 GJB2 UBE2T GJB6 MCIDAS DNAH9 PEX1 MRAS GTF2H5 ND5 PEX1 BCOR COX15 ND1 GAS2L2 KIF7 ERCC4 WHRN RAI1 NLRP3 FHL2 ANOS1 SGCD IQSEC2 PEX12 DLX6 IDUA ERCC4 COX2 CHSY1 LRP5 MBTPS2 COL2A1 NUBPL KCNN3 PROKR2 TCTN3 ADGRV1 MAP3K7 TRNQ TMEM216 STXBP1 RFC1 PRPF4 FOXE3 EFNB1 ADK USP9X ERCC4 ATP6V1B2 DNAI1 FLNA SHOC2 DNMT1 FDXR NR2E3 SOX4 CASK CREB3L1 KITLG COX3 PRCD ZMYND10 NDUFA11 SIX5 IQCB1 BMP4 PITX2 PORCN SDHB CTSA GJA1 CDKL5 DHDDS GP1BA BCS1L CYP7B1 IFT140 RP2 GDF6 CEP78 PPIP5K2 NDUFS2 PROK2 SERAC1 CNGA1 NDP IQSEC2 NPM1 MAP3K7 MIR96 MYO6 ND5 MPZL2 AMMECR1 TBC1D24 COX20 RUNX2 PRPH2 DCAF17 COG7 FANCI GALC SEC24C DNAAF6 HACE1 ALX1 FUCA1 TWIST1 KIAA1549 SLC9A7 TTC19 GJB3 WFS1 SPEF2 ZNF81 FGFR3 PEX2 NAA10 ASPA NF2 SOX11 TNFRSF11B SLC52A2 PEX14 XPA FGFR3 NLRP3 GNS SNAI2 NEU1 FANCA PEX6 ITGB6 PRDM16 ABCA12 USP45 BBS10 NDUFAF3 NUP107 ERCC2 DMXL2 FANCB GIPC3 TCOF1 GLYCTK RFT1 BCOR BCOR PHEX TACO1 EDNRB MSX1 NOTCH2 NLRP3 GATA2 SEMA3E SLC39A8 NOG AMMECR1 OSTM1 FASTKD2 SIX1 NDUFA6 CARS2 TP63 PEX1 PHOX2B KCNE5 RSPH3 ATP1A3 EBP MASP1 SNAI2 DRC1 CHSY1 PSAP TULP1 WAC TRNL1 PTPN22 USH1C HSD17B4 COX1 LRP5 PEX26 TK2 CNTNAP1 PDE4D FOXC1 SP7 FGFR2 SLC25A1 TRNC STAC3 PRKAR1A GJB2 PCGF2 ACO2 COQ7 NDUFA13 FANCC COL11A1 CLDN14 RFT1 NDUFB9 SLC26A5 TCAP POU4F3 MEGF8 RREB1 SLC26A4 PEPD SOST GFER MITF LONP1 MYO7A HESX1 SIN3A PLAGL1 TIMM8A GJA1 MYT1 SDHA BTK NECTIN1 ALX3 SCO1 GDF3 LRP4 SYT2 RET SUFU LCA5 TSPEAR FRMPD4 FGF3 RRM2B ERCC1 PHYH ATP6AP1 PNPT1 COX10 FGFR2 TMEM126B CDC6 GJB2 COX10 PTPN11 GZF1 KAT6B TSPAN7 RPE65 LMNB1 CPLANE1 SKI PRTN3 PLA2G6 TP63 FLNA MBTPS2 APC APC2 RIT1 ALOXE3 FOXI1 GAS8 BBS9 LDB3 NDUFA1 NSD1 GJB2 HACE1 LOXL3 SMARCA4 NDUFA4 PEX7 TRNW RPL11 FLNB ND6 ZNF41 MPDZ ABCC8 FGFR3 CFAP300 IFT88 TARS1 TRNV ND4 NEK2 TMEM132E NDUFAF3 EDNRB RHO PTPRQ TWIST1 TRNS2 BPTF ARHGDIA TACO1 DLG3 IRX5 SLC33A1 SIX6 SLC19A2 ASCL1 AGRN PEX6 RPGR TBX1 GTF2IRD1 FAS RAI1 SALL4 PEX16 ND6 ARX NDUFS7 POLD1 GATA3 C1QBP NOG MANBA TNNI3 ACTG1 LARS1 TRIOBP EFTUD2 HDAC8 SPIDR BRAF PITX2 MGP TRNV USB1 NAGA BMP4 SOX10 SETD5 GJB2 SLC26A2 FSHR FGF3 PIK3R1 AMER1 RECQL4 MAP3K7 NDUFAF4 FGFR3 HS6ST1 CFAP298 CDHR1 COG5 KDM6A CEACAM16 ROR2 MAP3K7 RPS6KA3 GLIS3 KCNJ13 ABCC9 ROBO3 SIX1 GJB2 ZFP57 ADPRS IDUA FANCE AIFM1 EXOSC2 FANCM MAX PDE1C MYO15A CLIC5 RAF1 SNAP29 KDM6A HNF1B PMP22 PGM3 PDHA1 TRNQ AP1S2 PEX26 ARID1B PSEN2 DNAH5 PRPS1 ARNT2 ARHGEF6 RAC1 NDUFA13 TRNF SMAD4 NDUFB11 RPS6KA3 PEX3 DGUOK DNAAF5 USH1C BRAF FAT4 IFT172 LRP2 TFAP2A CASK SALL4 TRNS1 TNFSF11 STAT3 PTPN22 PRKDC SGPL1 DHDDS GBA2 SDHC RNF13 NSD2 PCDH15 TRNL1 TP63 PDX1 TERC SMCHD1 EFTUD2 VCP TSR2 MARVELD2 ENPP1 CYP7B1 FANCE IDH3B COL4A3 KCNJ10 RTTN CRKL TNFRSF11B GPC4 CPLX1 PAX2 SOX10 ABCA4 NDE1 FBN1 TPM1 COCH STUB1 COL4A5 FOXJ1 NDUFA10 NDUFV1 SLC26A2 KRAS NSD1 BEAN1 SLC35A2 GDNF FRG1 TRNL1 NAGA SMC1A CCDC103 LIPT1 NOG NDUFS8 CRYAB FBN1 CACNA1D DNAJC3 TRNI AHSG LRP4 MYH9 PEX7 KCNJ10 ZNF469 RAD21 COL9A2 GTF2E2 KLHL7 GMPPB CDC42 UBR1 IMPG2 SCO2 MAPK1 CPLANE1 IGBP1 NDUFA9 HOXA1 ANKRD11 TBC1D24 P2RX2 GLI3 DVL1 OFD1 PEX16 KISS1 PEX7 BCAP31 MYH14 POR PCDH15 WHRN ELMOD3 SPTLC1 NOP56 ND3 ST3GAL5 DDB2 GRIP1 HOMER2 BCR NRAS OSBPL2 SLC7A14 KCNAB2 MAN2B1 ARHGEF18 VPS11 DNMT1 COL11A1 FAT4 RNR1 DDX11 ATRX NDUFS4 TERT RBM8A CNGB1 NUS1 IDH3A ARID1B POLR3H PLAA GMPPA ROR1 PTPRQ HNF1B PCARE TP63 OPA1 MBTPS2 BTK PORCN MYH3 MET MITF FRAS1 TTC8 ABCB6 NMNAT1 ATP8B1 GPC4 C8ORF37 ANKH MPZ LRAT SALL1 OPA1 USH1G BEAN1 DOLK SLC25A11 SUCLA2 PAX3 FOXC1 TIMMDC1 NOG COQ2 PDK3 S1PR2 IGF1 GCK AP1S1 KCNE1 COL2A1 HTRA2 OTUD6B MSRB3 NDUFAF5 RSPH1 GJA1 ERCC4 GAB1 SUMF1 AMER1 SALL4 NDUFV2 DNAL1 IRF6 FTO WFS1 BPNT2 RRM2B TRNL1 COX8A EYA1 ERCC6 STAC3 DIAPH1 RBM20 KAT6B GDF5 MANBA TRNF ARSG CEP290 NDUFA9 PEX5 MSTO1 EP300 COL1A2 COX14 RPGRIP1 TECTA PTPN22 PNPLA2 COL2A1 KISS1R CYTB EDN3 CTSA COL11A2 PEX5 AP1B1 PTEN LZTR1 IMPDH1 LEMD3 TMPRSS3 SNRPB ST3GAL5 KCNC3 RPS28 ARVCF CLCN7 ATP6V1B2 POMGNT1 PIGV TMEM127 TTR NDRG1 PEX13 MGP RAF1 SDHA CHST14 PEX12 KCNJ10 JMJD1C ACTB ARHGAP29 ND5 FGF17 SLC5A7 POLG MPZ GFER SLITRK6 SOX2 NARS2 SLC25A4 NRTN SMARCA4 FLNB PEX2 GJB2 BCS1L STRC ACTN2 MPLKIP PROM1 GNAS MAF PRPH2 DUSP6 BCS1L ACTG1 POLG XPNPEP3 ERCC4 RMND1 VHL EXOSC8 FGF9 FANCD2 DES PEX10 XRCC4 ND1 FGFR3 SNX10 LRP5 CHD4 PCYT1A ATP2B2 MAP2K1 PEX10 ILDR1 NDUFAF5 ITGA2B WHCR GJB3 PEX11B SDHD RAI1 MYH3 SLX4 CCDC141 ESPN CDK5RAP2 POLG OTOG TRAF7 SGSH LRRC6 THRB NRL CCDC40 EPS15L1 ABCC8 BMP4 RERE CSRP3 BTK CCBE1 ALDH18A1 CTNNB1 PGM3 MKKS BBS5 FANCL CLCNKA PEX10 ADCY1 COX3 EYA1 RBM10 COL11A2 MASP1 PLCB4 SDHD PCDH15 WRAP53 NOP56 COL2A1 MAFB COX2 SOX9 DIAPH3 NR5A1 CRB1 POLR1D FREM2 RRM2B FMR1 HARS2 ERCC2 GSDME CDH23 ND5 PEX11B POLG TNFRSF11A FOXRED1 FGFR2 MARS2 ERCC3 SLC52A2 CATSPER2 KITLG TWIST1 ERCC6 IFT172 BCOR NLRP3 BMP2 TRNF COQ6 RPGR G6PC3 COL7A1 ACY1 PHYH OTX2 EPG5 SETD2 SOST AK2 RASA2 DNAAF3 MYH3 CCDC151 EDNRB PEX6 PSMD12 POU3F4 PDE6B ASPA NRAS RFWD3 SYNE4 CA4 HYMAI RAF1 NOP10 CDT1 TYMP PMP22 SUMF1 SLC52A3 RAP1A NHP2 GSN PCNT HOXA11 FZD2 ATN1 CRB1 NDUFS4 FGFR3 TWNK CCDC65 NDP PIGL FGFR3 COL11A2 MECP2 SLC39A8 ORC1 GNRH1 PRPS1 PSAP ZIC1 GJB4 DVL3 PRDM5 RPL10 KIF7 CCBE1 COLEC10 EPG5 PEX6 SOX10 MYO7A SLC29A3 ARSA CCDC39 PEX3 GBA NAXD GATAD1 AIFM1 ACTB TMC1 HOXA11 LZTFL1 MYCN ZIC1 FGFRL1 KISS1R POLR1D TRIP13 MYD88 B3GLCT BSND ACVR1 RAP1B CTNNB1 PTEN ELN TSHZ1 FLCN OPA3 PALB2 GMNN SBF2 MKS1 NAGLU PRPF3 HCCS SDHD PUS7 MOGS MITF PNPLA2 HDAC8 SPRY4 POLG GRHL3 HCCS TAF1 NOTCH2 ND6 CLRN1 COG1 KYNU PROKR2 NOTCH3 TOPORS USH2A TRNF TTC25 DLST TRNL1 DDX3X BDP1 ATP8 EPRS1 TYR UFD1 ALG11 TAZ ATP1A3 ECE1 MITF PDK3 TCIRG1 WDPCP ARMC4 SOST CLRN1 KCNJ10 SDHAF2 CHST3 COLEC10 GRXCR1 COL2A1 SOX9 LRP12 OFD1 LRP2 LMNA SMCHD1 PEX13 EYA1 CFAP221 EHMT1 TAF1 CTC1 DMP1 TRRAP EYA1 DGUOK KCNH1 CDH11 SOX2 CIB2 TP63 PPP1CB AAAS CDCA7 SDHC DSPP DCC ASPM CHAT CISD2 PAX3 TTC8 CCNO DCHS1 GJB1 CARS2 TPM2 RAC1 PEX11B RPE65 POU3F4 BMP15 LOXHD1 RSPH9 TFAP2A PRRX1 SLC17A8 FGFR2 COX7B TBK1 ARL6 DIABLO PLOD3 PAX1 DLX5 PEX11B POLG SMARCB1 IRF6 VAC14 ARSG AARS1 TNFRSF11A TANGO2 UBE2A HOXA2 ADGRV1 PAX3 NLRP3 COL4A3 PNPT1 PIGS TRNK ACOX1 GRHL2 ADAMTSL1 XPA TINF2 CEACAM16 IL17RD WFS1 FGF17 HBB MERTK PET100 COL1A1 PDZD7 CXORF56 FKBP14 STAMBP CACNA1A PDE6G RECQL4 ERCC8 SAG RAB39B NOG GUSB HARS1 XPC EBP GSC MYO3A PHF6 RRM2B GATA1 HCFC1 TIMM8A PDE6A MECOM SPAG1 TCF12 TMEM67 NIPBL STRC PGAP2 NFIX TYMP DSG2 RIPOR2 WBP2 FUS FLRT3 DNAH1 NSDHL SNRNP200 SURF1 DHCR7 MECOM PTRH2 MYO9A EYS SLC19A3 CLCNKB PEX19 SURF1 FOXI1 CFAP300 DNMT1 L2HGDH KDSR TRNP RUNX2 FKBP14 SOX10 SMC3 CDC14A RRAS2 BCS1L ITM2B FGFR3 COX6B1 SPRY4 TPRKB LRP5 SNAI2 SARDH SLC25A24 FANCF CERS3 ND2 TRPV3 DKK1 RLBP1 SDHA GJB2 C9ORF72 FGFR1 SURF1 MLXIPL BRAF REST TOP3A CLIP2 RD3 CTBP1 LRTOMT REEP6 LORICRIN UBB GPRASP2 MYH7 PRDM5 COL11A2 SHANK3 PAK3 SCN5A ELAC2 GNRHR NDUFS2 SDCCAG8 HS6ST1 SLC4A11 GMPPA TBL2 ALMS1 PTCHD1 CSPP1 DNAI1 IARS2 GUCA1B PJVK FH FANCG IDUA HSD17B10 SURF1 DNAJC21 MEOX1 ARID2 PEX26 GALNS FXN TBL1Y TRNK TRPS1 PNPLA1 MITF COX1 BCS1L SLC29A3 DLX4 MYBPC3 MED12 OAT GJB2 SEMA3D LMX1A COMT GJC2 CD151 COL1A2 SKI SERPINB6 POLG GPC3 ERCC2 GJB6 SRCAP TRAPPC12 TBX22 TACR3 MGAT2 TWNK SPECC1L DVL3 TRNH PEX10 ARID1A CRX FGFR1 GP1BB COL9A1 CHN1 FGFR3 DMD SIX1 RDX TRNK TRNL1 BBS1 SIX1 HUWE1 WNT5A TUB PEX13 USH2A FLNA KMT2A RAD51 GJB6 NDUFS1 GABRD SMCHD1 GP1BB EYA4 WDR11 CD164 RP9 PDGFRB ARSA KIAA0753 COL10A1 TRNS1 NDUFS4 COCH TRNS1 DCAF17 EDNRB SC5D SDCCAG8 RBP3 MYO7A COL2A1 SLC26A4 RTEL1 VHL NSMF NLRP12 TRNS1 TK2 NPHP1 STK36 BRAF OFD1 CTNND1 XRCC2 FIG4 TP63 INTU IMPDH1 NIPBL VAMP1 PIEZO2 PTPN11 ARSB HAAO VHL DVL1 NDUFS6 PEX19 SOS2 GJA1 ATP6V0A4 SPATA7 LMX1B PLP1 PEX12 RRAS ACVR1 TRNW CHCHD10 CDH23 KYNU GDF6 TIMMDC1 KIF1B TRNP FOXRED1 OTOF ADAMTS3 USP9X PCDH15 DKC1 TUBB3 TNC PRPS1 POGZ ATP6V1B2 NLRC4 NDUFB11 SLC10A7 SMARCE1 PAX2 XYLT2 RPGR CREBBP NDUFAF2 RPS6KA3 AP1S2 PPCS OFD1 TBX22 GPSM2 GUCY2D ERCC6 HOXB1 FGFR1 ANTXR1 DPF2 BAZ1B EHMT1 KRAS COA8 ECHS1 KIF7 PROK2 WFS1 MEOX1 MED12 RGR NXN ERCC3 ERCC2 SYT2 NEU1 SGMS2 RERE DACT1 CHRNG ATRX FGF8 BAG3 SCAPER SPNS2 FGFR2 NME8 CHRNG ATP6V1B1 SMC3 DNAJC3 TCF12 SUCLG1 SALL4 PTPN11 PARN ITGA2 RNF113A ALG11 ARSA PEX7 SQSTM1 MECP2 BTRC FOXG1 CRYM TWNK OTOGL TECTA CEP78 MDH2 TRNK NLRC4 PEX3 TRNH PYCR2 GRXCR2 LHX3 RPL10 GMNN TMEM38B DEAF1 DUX4 BRAF TRMU FUCA1 LRP5 NDUFS2 UPF3B OFD1 VPS37A ABHD5 KARS1 LMX1B TGFB1 TRIM32 ELMO2 ABHD12 ORC6 PEX26 ROM1 BUB3 RRM2B COL11A1 TWIST1 COL25A1 AMMECR1 UGT1A1 NAA10 DNM1L YME1L1 PEX6 LRAT TCTN3 MSX1 WFS1 COLEC11 LIG4 DHODH SRY FEZF1 COL2A1 DNASE1L3 TP63 CAP2 FAM149B1 DUSP6 WDR11 FLNA MARS2 DARS2 HGSNAT PRPS1 SETBP1 COL2A1 TTN SOST TUBB4A USP27X DMXL2 HNF4A TBX4 EDN1 BBS12 CHD7 FIG4 NIPAL4 USH2A KCNJ11 MYO7A GUCY2D SLC4A11 DHODH PEX13 TK2 C8ORF37 NDUFA2 GAA TWIST2 FGFR2 OTUD6B IFRD1 SLC39A14 ACTB TRNS2 ERF TNNT2 LMNB2 SMPX MYH9 GDI1 PEX1 FKTN FGFR2 PRDM16 SEMA4A PIEZO1 PDZD7 DDX3X PPP1R15B RET ABCD1 HDAC4 A2ML1 CHD7 MYO7A NDUFAF6 PEX2 NAGA NSUN2 ZNF513 SMARCB1 TRNS2 MFN2 NELFA COL27A1 RNF135 NDUFV2 COL2A1 RDH5 COL9A1 CHCHD10 SIN3A LIMK1 GALE PEX1 FGFR2 CCDC28B OTOA DNAH1 SC5D DHCR7 TULP1 WHRN CHD7 ND1 ACOX1 KCNQ1 PROKR2 FLNB PEX16 ZIC1 OPA1 CD109 TBX1 ZNF711 COL1A1 CNOT1 COQ8A FGF8 SNRPB NEK1 LAMA4 SLC26A4 ATP1A2 ALOX12B PIK3R1 TRNL1 NOTCH3 SPRY4 KLLN COL13A1 PEX6 ZMPSTE24 SEC23B POMK CIB2 SQSTM1 COL11A2 BCAP31 COX7B SEMA3E PRPS1 GDF5 PEX19 SALL1 CHD7 BRIP1 TCIRG1 NDUFB11 BBS4 MCM2 SOX3 TBC1D24 TWIST2 SDHB MSTO1 CEP57 LHFPL5 DNAJB13 PNPT1 PRPS1 ACSL4 TBX1 GJB1 FSCN2 KCNE1 NDUFS8 IARS1 DCDC2
Neoplasm
Genes 1473
GPC3 LETM1 LZTS1 REST MPL ARID1B RPL18 MGMT GLI3 BIRC3 ZSWIM6 TRNS2 ETV6 HNF1B KIT BRCA1 SUFU PLAG1 SOX9 TP63 CTSC RASA1 ATRX TRIM37 SUFU BTK CYP11B1 NOTCH3 EPCAM PORCN PIGL AR TET2 FH TGIF1 HMBS ATRX TREX1 SMAD4 KRT17 FGFR1 WDPCP SF3B1 GPR101 KIT GLI1 SLC25A11 XRCC4 SDHD PRKCD RNF43 SDHB BAP1 EGFR PIGA NF1 ASCL1 MPL RET C2CD3 GDNF NR5A1 DICER1 TNFRSF4 CASP10 TERC FGF8 PSAP CIB1 SLC22A18 PTCH2 ENPP1 CDKN2C SLC25A11 GPR101 KIT AXIN2 TREX1 DYNC2LI1 ERCC4 RPS14 COMP TINF2 FOXE1 DHCR24 RPS7 TYROBP HOXD13 ERBB2 BLK EYA1 ZFPM2 ERCC6 NLRP1 STAC3 ERCC5 NUTM1 MEN1 WT1 BCL10 GNPTAB KRAS TP53 KDR PUF60 TRNF FCN3 SDHC KCNH1 MSTO1 EP300 BUB1B GNA11 KCNE3 DOCK8 SEMA3C ACD GLI2 SMPD1 SUFU NF1 PTCH2 ACAN DCC WT1 CTSA KIF11 BCR SRGAP1 KIT PTEN LEMD3 MLLT10 SCN4A BRCA2 BMPR1A NOTCH3 SEC23A CDKN1C BARD1 SPIB RSPO1 MC2R CALR ATP6V1B2 NBN RAD54L MST1 SUFU MYCN TMEM127 SRD5A3 IGF2 CD28 RUNX1 OGG1 HAX1 SDHC CTNNB1 MST1R SDHA IGF2 KCNJ10 IL12RB1 MEN1 RAD51 TFE3 ND5 MMEL1 MVK APC FLI1 RNF6 NF1 BRCA2 SUFU GPC6 NR4A3 TTC37 KIT NRTN BLNK IGH SPRED1 TXNRD2 IGF2R FOXP1 BUB1B SOS1 LRP5 GJB2 DNMT3A PMS2 PRKN RET MSH6 ACVRL1 MPLKIP ERCC2 AIP GNAS TAL1 NNT RECQL4 PMS1 DLL1 EIF2AK4 STAT6 MNX1 SDHB KRAS MEN1 MN1 SH2B3 EFL1 VHL KLLN RMRP RUNX1 SIX3 GDNF FANCD2 EXT1 CDH23 BRD4 DLEC1 NODAL CARMIL2 SDHB MSH2 HMBS SMAD4 SRP72 NRAS DOCK8 SPRTN BRCA1 MAP2K1 KRT14 LETM1 TERT MAP2K2 HRAS WHCR WT1 IDH1 TMEM107 SCN10A GJB3 SDHD KRAS GATA1 RPS20 GJB2 SLX4 USP8 PRKAR1A CR2 JAK2 HFE MPL POT1 BRCA2 GNAI3 SDHB ALK OCA2 TP53 GPC4 ACTG2 CTNNB1 HSPG2 AR FGFR1 STK4 MET TMC8 MRAP MSH6 CCBE1 EWSR1 LMO1 EDN3 LEMD3 PGM3 FGFR3 CASP8 RB1CC1 SCN9A FANCL TG SDHD COX3 IGF2 COL11A2 AGGF1 GPR101 PRKN PLCB4 SDHD NF1 GTF2E2 MAP2K1 ESCO2 CDC73 WRAP53 TET2 PDGFRB RNASEH2A RAD21 HNF1A TGFBR2 POLD1 COX2 TNFRSF10B MINPP1 DNAJC21 FAS EXT1 SLC26A2 APC SDHAF2 TINF2 LIG4 POLR1D WWOX TMC6 RPS19 ERCC2 SASH1 MC1R MVD SEC23B CYP2A6 GPC3 KIT HRAS RAD54L SDHA GDNF NKX2-1 GFI1 ALX3 STAT3 MYH11 DYNC2LI1 FGFR2 TCOF1 PTEN MAFA PIK3R1 SLC25A13 HRAS VHL COL7A1 GNAS FGFR2 PIK3CA GPC4 DICER1 ERCC3 PIK3CA RAD51C RB1 RMRP MLH3 ATM COL7A1 LIG4 NF1 VAMP7 RPL35A RB1 SETD2 BCL10 LPP NRAS KRAS ABCA5 ERCC2 PDE6D KCNQ1OT1 MS4A1 SLC22A18 APC LIG4 JAK2 FANCD2 GAS1 STAG3 NRAS PALLD SLC22A18 RFWD3 PPP2R1B APC PTPN11 PTEN WIPF1 PIK3CA NOP10 IL7 UROD TNFRSF1B TP53 REST SLC37A4 NHP2 CXCR4 KIT CYSLTR2 FZD2 ALX4 BMPR1A SRY TRNQ SDHD PIGL CCM2 FIBP FANCI GJB4 SPINK1 RPL10 NSD2 MAP3K1 RET CDK4 HSPA9 TET2 GFI1B MAD2L2 DCC AP2S1 SMAD7 BRCA2 TRNK ERCC3 BRCA1 ELANE SFTPC PTH1R COL1A1 FUZ OFD1 RET FLT4 PRKAR1A SBDS RPL26 SMARCE1 SMARCAD1 MSH2 BCR GPR35 INTU FANCA STAT1 ANTXR2 FGFRL1 TUBB BRAF SLX4 CASP10 TERT RAD21 MTOR TRIP13 MYD88 DPM1 RSPO1 PTPN11 CTNNB1 AIP PTEN VANGL1 CYP2D6 RPS10 GCK KRT16 DNAJC21 BCL2 AKT1 KRAS KLF6 NOTCH1 FLNA MAX NF2 PALB2 TP53 PSENEN RNF6 TSC1 HNF1B TP53 RFWD3 SDHD PERP TP53 DIS3L2 B3GALT6 STS PDGFB SMARCB1 BRAF BRIP1 CBFB BUB1 BLM INHBA CALR NBN MLH3 TAF1 MLF1 PIK3CA MSH2 CTLA4 ND6 PALB2 WT1 PTCH1 POLE ADA MC1R FLT4 ATP7A MLH3 SMO TRNF NRAS LMNA DLST TRNL1 MTAP TP53 ZAP70 SDHB CHEK2 PALB2 FLT4 CDK4 NBN MSR1 CC2D2A TNPO3 ECE1 RPS15A NAGS TMEM67 HNF1A PIK3CA ATP7A AKT1 NRAS SDHAF2 CXCR4 TSC2 NF2 EPHB2 WDPCP OFD1 BUB1 FLT3 APC SMARCA4 CDKN2A RPS29 MCM4 PDGFRA ESCO2 CTC1 ESR1 SDHB MSH6 APC HABP2 GNAQ KIF1B SH3GL1 CD70 MPL IGH ZIC2 GCM2 VEGFC HRAS CTNNB1 KCNH1 LRRC8A BRAF FAS ICOS NSD1 RNF43 AKT1 BIN1 DLC1 SH2B3 RARA WNT10A CARD14 SDHC EXOC6B ESCO2 POLR1C G6PC MSH6 KRT1 PDX1 TNFRSF13C ERCC3 EVC SNAI2 CD79A BRCA1 RNASEH2B CCND1 TP53 RPS19 H19 H19 BRCA2 TFAP2A ARMC5 FASLG FGFR3 APC F5 EDN1 MAP3K8 AIP APC AKT1 TERC CCND1 CEL MYC TP53 GPC4 ERCC5 HNF1A POLE DAXX NUP214 TRIP13 AKT1 TET2 CDC73 ND1 MUTYH PIK3R1 TERT CEBPA EXT2 OCRL DIS3L2 ADAR TGFBR2 BRCA2 MRE11 SOS1 HNF4A FAH TMEM127 WT1 AXIN2 TCF4 EDN3 PTPN3 KRAS SEMA4A PIK3CA XPA MFN2 TINF2 PIK3CA APPL1 RUNX1 GNPTAB FGFR3 NRAS PDCD10 RAG2 PTEN CTNNB1 SOX2 BMPR1A HBB TERT USP9X NFKB1 FANCC PRF1 WRN SRY SRSF2 PMS2 RHBDF2 PHOX2B RPS17 PAX3 RECQL4 KIF1B SQSTM1 RB1 EXT1 XPC CYLD TOP2A MYD88 CDKN1B TET2 GJB2 PTEN UBE2T RTEL1 PTCH1 KLHDC8B GATA1 POLH JAK2 RHOH FLCN DCLRE1C MTMR14 GTF2H5 PTEN SBDS TBC1D24 PAX7 AR TP53 ASPSCR1 MTM1 RECQL4 ERCC2 TGFBR2 ERCC4 JAK2 SF3B1 CDKN2B XPC GATA4 KIT POU2AF1 BRCA2 GREM1 CDON NTHL1 DICER1 GINS1 ATM RAD51D SHOX EXT1 RASGRP1 WT1 GATA2 NF2 ERCC4 TUBB MBTPS2 DHCR7 MYLK KCNN3 TCTN3 TMEM216 TMEM231 KRT1 CTNNB1 MPL PDGFRB FANCG RPGRIP1L KEAP1 DICER1 WT1 BAP1 FOXI1 ERCC4 CDKN2A FGFR3 KDSR CBL HRAS BMPR1A DISP1 RELA MAP3K1 PARN BCR ENG COL7A1 LMOD1 KRAS PAX6 SNAI2 GLI3 FANCF FOXO1 RPL15 TBX18 TRPV3 PIK3CA NRAS CDH1 GNAS SMARCB1 KLF11 ADA2 EDN3 POU6F2 CDH1 GNAS IL1B SMAD4 H19-ICR SDHB STK11 NF2 TRIM28 SEC23A SLCO2A1 BRCA2 BRAF DNMT3A MDM2 BMP2 BRCA2 DHH NRAS POU6F2 CTBP1 PTCH2 FLCN CALR BAP1 LIG4 HRAS REST BRAF SAMD9 NDP TYR KRT17 MUC5B PRSS1 MEN1 NPM1 ITK MSH2 CYLD TAL2 SRP54 IFIH1 HMMR TCTN3 ND5 JAK2 FAM20C RET NEK9 DMRT3 KRAS MINPP1 SH3KBP1 THPO FAH KRT5 JAK2 PHKG2 TSC1 TNFRSF13C MEN1 FH RPL31 FANCG PIK3CA IL2RG DNAJC21 VANGL2 MYO1H ALX1 CDKN2A AIP H19 NRAS TWIST1 PTEN TRNK TRPS1 RPS26 MAPRE2 RPS27 TCF3 KRT17 ERCC6 DHH MMP1 FGFR1 SEMA3D PTCH1 ABL1 CDKN2A SKI APC WWOX ZSWIM6 NF2 WNT10A KRAS GPC3 REST GJB6 HRAS VHL CTNNB1 TGFBR1 IL6 TDGF1 RPL11 IL1RN BRCA1 MGAT2 POT1 ASCC1 XPA TBX2 FLCN HFE NTHL1 SMARCB1 DVL3 TRNH IDH1 FANCA LAMB3 CD79B RAD51C PRDM16 PHOX2B GNAQ CCL2 PDGFRA CREB1 SRP54 PIEZO2 TRNL1 GBA GNAS WNT5A PIK3CA STS FANCB KRAS MAGT1 RAD51 IDH1 TNFRSF13B TREM2 GABRD BCL10 SKIV2L POLD1 KRIT1 KRAS ARSA SMAD4 RAD51 TP53 DIS3L2 KIAA0753 PRLR CD96 LZTR1 WRN GATA2 EDNRB MUTYH ATM CHIC2 TP53 CYLD PAX4 SLC26A4 RTEL1 VHL NEK1 TRNS1 GCM2 TYR ATP7B CTHRC1 BRAF ASXL1 OFD1 MLH1 CDKN1A PHOX2B XRCC2 CD19 RB1 FOXC2 TRIM28 EWSR1 TERT GNA11 F13B CDKN2A KARS1 BCL10 TP53 WT1 CDKN2A FDPS KIT COX1 COL14A1 VHL WT1 TERT SMAD4 STAR NUMA1 RPL5 PDGFB PCGF2 CFTR KCNQ1OT1 KIT GJA1 GNAQ CD27 FANCC IDH2 EVC2 BRCA2 TCF4 KRAS PIK3CA CDC73 ACVR1 BRIP1 TRNW PRCC GCGR CDKN1B STK11 SCN11A TGFBR2 AXIN2 ERBB2 RPL35 APC TSC2 IL12A SSX2 TET2 KIF1B DICER1 TRNP BTK CCDC22 PDGFRA ALX3 ADAMTS3 CD81 RET DKC1