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 Poi 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 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 Dise 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 Perip 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 SSc 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


HP:0001873: Thrombocytopenia
Genes 412
CTC1 TBXAS1 RNASEH2C SRP54 MYORG SLC20A2 TET2 MYH9 HLCS CD40LG ERCC6L2 XPR1 CFI IVD SCARB2 UBE2T MPL DOCK6 RBPJ VPS33A EFL1 FASLG STOX1 OCRL TINF2 FOXP3 PRKCD CR2 IRAK1 FCGR2C GBA ACTN1 TINF2 PSMB8 NHEJ1 IL7R TNFSF12 CFI TINF2 LAT NHP2 TBX1 DHFR TERT DNAJC21 VWF SAMHD1 G6PC3 MECOM UROS FASLG CORIN UFD1 GP9 SBDS NHP2 MYSM1 CD81 TNFSF12 CFH RNASEH2A LRBA ARHGEF1 DNAJC21 ITGA2B DCLRE1C XRCC2 HELLPAR NFKB2 NOP10 JMJD1C CD46 PALB2 RAG2 DGUOK FCGR2A WAS POMP KDM6A FANCE ABL1 NHP2 ICOS NFKB1 FCGR2B CA2 HLA-DRB1 FAS RAD51 MMAA STAT3 SEC24C STT3B C1R GBA AGK FANCD2 TET2 VWF RTEL1 ITGB3 ANKRD11 CDC42 TERT FANCC IFNG IRF2BP2 PEPD GUCY1A1 SPATA5 GBA ACD BCOR RUNX1 FLT1 COMT ACP5 GBA ERCC4 MVK CFB SBDS WAS NFKB1 NFKB2 GBA GP1BB MMACHC CDC42 MAP2K1 GATA1 BRCA1 PARN STIM1 RFWD3 KIF15 PCCA PSMB4 DNASE1 TET2 BRAF GATA2 ABCA1 ZBTB16 NUMA1 TINF2 DKC1 ITGB3 UROS TREX1 SALL4 HYOU1 STAT5B GBA MMUT C1QA RAG2 TERC MMUT JAK2 FANCB RREB1 FANCA MPL HOXA11 SLC35A1 ELANE FANCC CD46 SLFN14 MAD2L2 KRAS FOXP3 RUNX1 MMUT CD19 SARS2 SBDS WRAP53 ACAD9 GP1BB EFL1 GFI1B NABP1 TREX1 FARS2 SLC19A2 WIPF1 TERC DKC1 NSUN2 ETV6 NBN USP18 PTPN11 WAS STAT3 SP110 SRC PRF1 EOGT RARA SALL4 HLCS C3 CD109 MYH9 TERT TNFAIP3 MECOM PRF1 SC5D ITGA2 ITK SMPD1 PRKCD ABCD4 FLI1 ATRX NOS3 GATA1 NPM1 TPP2 COL4A5 ANKRD26 MTOR TCN2 TUBB1 PRDX1 WFS1 NRAS PRKAR1A OSTM1 SLC46A1 DGKE FIP1L1 MYSM1 HPS5 UBE2T RNASEH2B PML TBL1XR1 SRP54 SMARCAL1 GNA14 ACAD9 FANCE ESCO2 FANCL RFX5 ATP7B OCLN IFIH1 JAK2 MPIG6B HIRA PSAP LIG4 PHGDH SLC35A1 TERC FANCG SF3B1 KMT2D BRIP1 SLC19A2 ADAMTS13 BCR GATA1 NBN FANCF PSMB9 ALG8 GP9 CD36 TALDO1 FAS PDGFB CLCN7 PCCB CD81 NOTCH1 STIM1 ADAR LMBRD1 STAT1 FYB1 PARN TMEM165 RFXANK TNFRSF13C TNFRSF13B STX11 GALC CALR PNP USB1 CIITA RFXAP ADA FLNA COG1 BTK FANCA NBEAL2 CASP10 FANCM RTEL1 SLC46A1 TNFSF11 ARHGAP31 RBM8A ITGA2B CTLA4 SLC7A7 GFI1B RBM8A COG4 LBR PDGFRB RAG1 SAMD9L RAG1 FANCD2 GBA TFRC RASGRP1 CASP10 GP1BB BRCA2 PNP DLL4 TNFRSF11A STAT4 RAD51C HLA-B ARVCF SH2D1A SMARCD2 LARS2 ZAP70 PTPN22 SMARCAL1 RNASEH2C TREX1 SAMD9 BTNL2 APOE SLX4 NPM1 GATA1 COG6 IKZF1 SLC7A7 DKC1 ARPC1B MS4A1 VPS45 CFHR1 RPS19 PLAU TBX1 PRKCD BLOC1S6 GATA1 FANCG APOE FANCI LYST SAMHD1 TET2 STT3B LIG4 SCARB2 CFHR3 DIAPH1 LYST SNX10 RNASEH2A FLI1 CTLA4 FANCB GP1BB TERT GATA1 PRKACG XIAP SPP1 NBEAL2 CTC1 NOP10 GP1BA MMAB GP1BA FAS CFH VPS33A HOXA11 TALDO1 NIPBL GP1BA MPL MAD2L2 CYCS AP3B1 IFIH1 GP1BA THBD SPATA5 TERT ERBB3 WIPF1
Protein Mutations 2
G20210A V617F
SNP 0
HP:0001392: Abnormality of the liver
Genes 1390
SRD5A3 WHCR CSPP1 ATP7A IL2RG MYORG NR1H4 IL17RC PEX1 B9D1 CD40LG TCF4 INSR SKIV2L RRM2B TTC37 HPD PEX11B NEU1 DOCK6 RBPJ CLEC7A RNF43 PSAP HNF1B HSD3B7 VPS33A LIPT1 EFL1 SDHC CEP290 TGFB1 CHD7 TINF2 FOXP3 PRKCD ALG6 CR2 C11ORF95 PTPN3 LACC1 ABCB11 KRT8 PLEKHM1 SETBP1 CASK PEX10 PKLR HADHA GBA TINF2 SLC4A1 AGA HADHA RPS20 IL7R TCIRG1 FLI1 GLIS3 CFI UQCRC2 IL17RA DNASE1L3 TRNK MRPL3 LCAT MPV17 TBX1 PEX11B TMEM70 KLF1 INS HBB NDUFS1 KMT2E HFE FASTKD2 ALG9 CTRC KRT18 SOS1 EIF2AK3 WDR35 PYGL FASLG CORIN BSCL2 ALG8 CD81 TNFSF12 RHAG FAN1 NCF2 LMNB2 ACADM H19 FBP1 GNE TNFRSF1B ND3 RMRP XRCC2 PC SLC29A3 ACOX1 COG8 RHAG SLC30A10 CDKN2B TJP2 COX6B1 SMPD1 SPTB WDR60 CBS RPGRIP1 SRD5A3 RPGRIP1L MLH1 ATP8B1 TRIM37 TMEM67 NHP2 SLC11A2 INPP5E NFKB1 CDKN1A HADHA CA2 ACSF3 H19 POLD1 AP1S1 F5 LYRM4 SLC2A1 KRT6B PCK1 POLG2 SEC24C HNRNPA1 DHDDS ALG13 AKT2 APOA1 B3GLCT GBA MPC1 KRT16 TET2 LDLRAP1 SLCO2A1 ACVRL1 KCNH1 PIGS APC TMEM67 USP9X CAV1 IFT122 TNFSF11 LRPPRC POMC BBIP1 B9D2 PEPD ACAT1 LMNA SPTA1 ACVRL1 GATA6 LPL DIS3L2 GNPTAB PHKG2 TNFRSF1A IDUA KRIT1 SLC25A13 BMP2 GPI SNX10 AKR1D1 BBS1 MED25 APC MAN2B1 MTRR ALAS2 ERCC4 PEX14 PNPLA2 PIEZO1 MVK PEX16 BRCA2 BCS1L SBDS TUFM VPS13A IFT140 SDCCAG8 GBA AMACR PFKM HFE PTPN11 APC INSR NPC1 CTNS TSFM PEX5 IFT172 BRCA1 IFT80 ERCC4 SLC25A13 RFWD3 PSMB4 HBA2 WDR19 ALDOA ELN ATP8B1 JAK2 MPI SMPD1 HMBS TBX1 ABCA1 ICOS UROD DCTN4 DKC1 LIG4 NBAS PEX3 TRNE ACADVL SDHA GPC3 TREX1 PEX10 CAV1 MYC HADHB HGSNAT GBA MMUT PEX26 RAB27A PEX12 PMM2 RREB1 RPGRIP1L CLDN1 MPL UQCRB MRPS16 UGT1A1 WDPCP FANCC HJV PEX13 CARS2 AP1B1 GYS2 PROP1 MRPS7 PEX2 PEPD G6PC MCM4 MMUT COG4 ABCC2 PEX26 HLA-DRB1 PPARG NDUFS7 NPHP1 VIPAS39 ABHD5 SBDS PIGA APOA1 GP1BB EFL1 VCP SLC17A5 COX4I2 GPD1 GPC3 CA2 DDRGK1 NDUFAF1 COG5 PHKA2 TWNK PHKG2 KRAS CYBC1 USP18 TMEM231 SP110 PEX1 CIDEC EOGT MSH2 IL2RB SLC39A8 MEFV TANGO2 FERMT3 ATP7B PDGFRL ATM TTC21B TERT HMGCS2 HOXD13 ENG MYH9 CEL LONP1 FGA SLCO1B3 CYP27A1 MIF DPAGT1 TERT TF CLCN7 TMEM107 CD247 NDUFA6 TRAF3IP2 DNAJC19 APOB SMPD1 CEP290 PRDM16 STK11 ND2 LETM1 ITCH LPIN2 PEX6 CASR SLCO1B1 POLG TPP2 IFT172 ZAP70 CNTNAP2 SKI H19 CYP19A1 ABCG8 PKHD1 CC2D2A CTCF GCGR CD96 PIK3CA GAA PSAP LHX1 PEX2 UBE2T PSAP ND4 PEX6 SLC29A3 TACO1 RNASEH2B POLG2 ZMPSTE24 RELA TMEM67 PCK2 POMC CD79B LBR SRP54 AKR1D1 SLC39A4 SC5D RPGRIP1L PLPBP SPTA1 RERE NKX2-5 NDUFS4 FAH CC2D2A COX20 GATA6 TERT TRAPPC11 ARSA HBA1 FANCL RFX5 PEX14 HNF1A FUCA1 OCLN DCDC2 TPI1 GUCY2D PSAP NSD2 PIK3C2A STAT6 CEP19 TERC SF3B1 NDUFS6 COG6 ACADL HADH RRAS POU2AF1 NOD2 CLIP2 NDUFV1 ERCC8 PEX5 HBB NPHP3 CAVIN1 PSMB9 RFXAP TCF3 NRXN1 FECH CP GFM1 GYPC CTSC SLCO1B3 CD28 NOTCH2 GNS HAMP CDAN1 CEP120 C1QBP ADAR CEP290 POLG2 HBG2 TIMMDC1 PARN EIF2AK3 RHAG ALDOB TNFRSF13C IL21R TRMT10C RFXANK BMPR1A STX11 CD27 CASP8 DHCR7 SGSH SLC25A19 HNF1A CSPP1 BBS12 RFT1 NLRP3 USB1 TRIP13 TMEM67 IDUA PMS1 CPT2 SLC25A20 RFXAP ADA HSD3B7 RAG2 WDR35 RMRP PCSK1 PRSS1 KCNQ1 FDX2 NDUFS8 CEP290 ND1 CCDC115 NGLY1 LMNA WDR60 FANCA MSH6 TMPRSS6 POU6F2 IL2RG NCF1 NSD2 STEAP3 INTU ADAMTSL2 SON PIK3CA FANCM LDLR KCNJ11 CLDN1 DLD TNFSF11 ABCA1 PIEZO1 ARHGAP31 RBM8A SLC13A5 NOTCH2 PEX6 EPCAM MEN1 KRAS TRIM32 PEX14 DUOX2 PDGFRB HBB UBR1 PEX13 RAG1 ABCC2 CIDEC TBX19 SDHA APC ARL6 XIAP RASGRP1 TCIRG1 SMAD4 NHLRC2 ALG1 BRCA2 POU1F1 ND5 DLL4 NDUFB11 TNFRSF11A HLA-B GTF2I EPB42 CTRC SLC22A5 PEX1 IL2RA RNU4ATAC SLC37A4 BCS1L BCHE KCNJ11 LMNA TFR2 TREX1 GUSB BTNL2 TRAF3IP1 SLX4 TNFRSF13B CYBA UGT1A1 DNAJB11 KCNN3 DKC1 PEX3 VPS45 APOE SCO1 GPR35 TBX1 CR2 ATP6 PRKCD JAK2 CTNNB1 HESX1 NPHP1 LMNA APOE FANCI LYST TET2 PEX13 TP53 NUBPL TRAF3IP1 CCDC47 PDX1 TANGO2 TTC8 LYST AP1B1 RNASEH2A MUC5B IL17F SERPINA1 PEX6 FAN1 PKLR NPHP3 C1S NPHP4 FBN1 UGT1A1 KRT18 CYP7B1 CIITA GPC3 HADH HJV KPTN XYLT1 PEX16 CYP7B1 APC UGT1A1 CPT1A BBS5 PALLD CTC1 NSMCE2 FADD TTC7A BCS1L FARSB DDRGK1 NPHP3 IFNGR1 CFTR PEX16 XRCC4 FGFR2 HNF4A MPV17 GALT SLC25A1 ACADM ALG9 KLF11 MLH3 CLCN7 IGLL1 UGT1A1 CLPB GBA TALDO1 KRT8 BTD ARSA PLAGL1 HK1 ALG2 DPM2 C8ORF37 DMD SLC40A1 SLC26A4 G6PD GALK1 AGPAT2 PEX5 PDGFRA SLC40A1 IL2RG IYD KLF1 WT1 BBS10 ATP7A RNASEH2C SRP54 ABCC8 PEX13 DYNC2H1 SLC20A2 ESCO2 GPC4 PAX8 CLCA4 C4B PCCB COG8 ABCB4 XK TNFSF15 APPL1 HEXB CPT2 PEX6 XPR1 CTSA IER3IP1 ACOX1 B2M TNFRSF1B YARS2 DCLRE1C HYMAI SCARB2 CD70 BSCL2 AHCY LYZ SPINK1 SOX10 IDUA ABCC8 GABRD WT1 FASLG ERCC6 FOXF1 STOX1 TBX19 CTBP1 DPM1 ATP8B1 PEX12 BSCL2 ENG UCP2 PKD2 RNU4ATAC FGFR2 SCYL1 COG7 DAXX MST1 PSMB8 BLVRA GPIHBP1 HADHA NELFA SURF1 TNFSF12 GPC4 SMAD4 PEX19 GNAS TRMU COX10 ALAS2 NAGA DOLK PEX2 NHP2 MCCC1 TRIM28 DHFR DNAJC21 CTSK SETBP1 PEX3 WDR19 NAB2 DPM3 RECQL4 MVK RFT1 LZTR1 G6PC3 ANK1 CDKN1C STN1 KRAS PALB2 SEMA4A EPB42 UFD1 NHP2 LIPE RIT1 RNASEH2A DCDC2 FGFRL1 HNRNPA2B1 STEAP3 PARS2 DNAJC21 LHX3 TG DCLRE1C HMGCL DIS3L2 FOS VPS33B TMEM199 BRCA2 RBCK1 HELLPAR NFKB2 CASR LMNA NOP10 SFTPA2 XRCC4 PAX4 JMJD1C RAF1 CD46 PALB2 RAG2 DGUOK COX8A ND3 CFTR FANCE ICOS RMND1 RFX6 NDUFS7 IL12A LIG4 KIF23 SCYL1 NDUFS2 HLA-DRB1 FAS NCF1 ARSB MKS1 SLC25A20 RAD51 EWSR1 ALMS1 GALE PEX26 TSC1 MMAA SLC4A1 KRT17 PAX8 ABCA1 PEX19 ZIC3 ADA2 EPB41 SERPINA1 CFTR NPHP3 MOGS FBP1 FANCD2 LBR TNPO3 SLC25A4 ATP11C LRP5 TSHR NEK1 CCND1 MET VHL ABCG8 IDUA TRMU WDR34 ABCB4 SPECC1L ERCC4 DYNC2H1 MKS1 GLB1 ASAH1 ATP6V1B2 SLC25A13 NEUROG3 ND1 TCIRG1 HSD17B4 CDKN1B LRP5 STK11 IL1RN COG1 NRAS ND6 GBA BTK AMACR ETFA ND2 PPARG FLT1 COMT DGUOK CD19 PRPS1 GBA HADHB POU1F1 DLD MKKS SEC63 TRMT5 TGFBR2 GBA HMGCL SLC4A1 HBB TRNS1 MRPL44 DDOST PCCA ABCB4 LIPA ABCD3 LIPE GATA2 BTK REST SUMF1 FUCA1 PEX3 AGGF1 PEX14 RAG1 UROS ANKS6 KCNN4 SDHD PTEN TREX1 TSHB APOC2 SLC2A1 GLB1 CDKN1B CPA1 ASL HMBS IL36RN KIT INPPL1 HYOU1 TRIM37 HPGD ELN PEX19 TGFB1 CBS CYP27A1 RAG2 TGFB1 PSAP MMUT COX10 COX15 KCNN4 CYBB HMOX1 H19-ICR NDUFA11 PLIN1 DYNC2LI1 NDUFAF2 TERC MAD2L2 NDUFB9 MSH6 KRAS CD3E FOXRED1 CD19 HBG2 TRNV PCCA HNF1A KIT WRAP53 GCLC C8ORF37 COX14 ACAD9 GNMT TREX1 ATP6AP1 RFC2 HNF4A CD3D SLC25A13 PEX12 TMEM67 TERC CTLA4 TRNN CDKN2A LMNA BCS1L IDS MET IL7R CDKN2C TSHR PLIN1 PET100 GPC1 CPT1A HNF1B NLRC4 BRCA1 PEX3 DPM3 JAM3 GNPTAB TRNW DLL4 JAK3 IFT140 MICOS13 DNAJC19 PNPLA2 PRF1 NAGA CEP55 SC5D PIGM PMM2 GALT BBS7 HLA-DRB1 ITK PRKCD NDUFAF4 BBS2 LIPA NGLY1 IDUA HAVCR2 IQCB1 MFN2 NOS3 SUMF1 BBS9 NDUFAF1 MYBPC3 SLC30A10 PEX26 PEX10 EPB41 KCNAB2 ACADVL GUSB CPT2 AGPAT2 HBB POLG ETFDH NRAS PEX16 GLRX5 LRRC8A COA8 OSTM1 LIMK1 NLRP3 TBL2 LZTFL1 FH CPOX CEP164 PNPLA6 SLC37A4 SPTB ABCB11 TWNK SFTPC ALDH7A1 INPP5E HBA1 ATPAF2 SHPK ICOS SLCO1B1 FCGR2A SPRTN FBXL4 MARS1 ALG11 TMEM67 KIAA0586 CPT2 IL7R NDUFS3 RASA2 ACAD9 AUH TKT ATP7B NSMCE2 RHBDF2 OFD1 CLCN7 IFIH1 JAK2 WT1 DZIP1L HIRA DPM2 PRKCSH GNE NCF2 SLC25A19 ARSA TFAM COX15 COG2 CEP83 SNX14 KCNH1 NEK8 BBS1 NDUFAF3 PSAP CD79A BRIP1 SEC63 ADAMTS13 ANTXR1 IGF2 FANCF PDGFRA BLNK ALG8 WDR19 PEX10 TMEM126B TPO TALDO1 FAS PDGFB CLCN7 DHCR7 BMPER IFT172 PCCB TP53 CTLA4 SDCCAG8 GCK NOTCH1 PTRH2 ADA NCF4 SLC35A2 SMAD4 STAT1 TTC37 GDF2 TMEM165 IL12RB1 RFXANK IRF5 NDUFAF5 TNFRSF13B PEX12 TRAPPC11 INVS CALR TRHR SPINK1 CD28 MECP2 SEC23B AGL ABCG8 CIITA WDR19 HBG1 GALNS OFD1 TMEM216 CC2D2A ABHD5 PEX2 LARS1 TTC21B GCDH RPGRIP1L STX1A IGF2R IGF2 BTK LIPA TRNL1 MKS1 COG2 SLC25A15 PKD1 CC2D2A TNFRSF13C SLC4A1 SP110 CASP10 ATRX PKHD1 PRKCSH HNF1B SKIV2L SOS2 KRT6A PIK3R1 TARS2 RRAS2 RTEL1 POLG TCTN2 CD55 GBE1 CCDC28B PRKAR1A SLC7A7 CYTB IFT27 NPC2 BSCL2 NDUFB10 COG4 SDHB SAA1 AP3D1 ITCH SLC5A5 PRSS1 SAR1B PEX11B RAG1 GDF2 ALMS1 F5 PMS2 COA8 GBA HBB TSC2 CASP10 CASR EXTL3 LETM1 NDUFS4 HAMP DYNC2LI1 TRIM28 PHKB PSMB8 RAD51C AKT2 ARVCF SH2D1A DUOXA2 ZAP70 LHX4 C15ORF41 RNU4ATAC POLR3A HNF4A AGA RNASEH2C TYMP IFT172 MYD88 JAG1 APOE LTBP3 ASAH1 NPM1 COG6 IKZF1 PHKA2 SLC7A7 CYBA HFE GLB1 NLRP1 CBL RFX5 MS4A1 HNF4A BBS4 ARSA NAGLU BTNL2 FAM111B PLEKHM1 DMPK AIRE BPGM MLXIPL FANCG EARS2 WDR35 SAMHD1 PGM1 AP1S1 AXIN1 LMNA ALDOB ADK PRSS2 KCNQ1OT1 HBA2 CAVIN1 BLK SNX10 PPARG RRM2B CYP7A1 IFT80 BAZ1B CTLA4 FAH SLC25A15 NEUROD1 PEX1 NDUFV2 PEX5 SLC22A5 MLH1 FANCB WDR34 CPLX1 IARS1 WDPCP EXTL3 TMEM216 TERT BOLA3 XIAP MYRF CTNNB1 CYBB SPTB GANAB NPHP3 NAGS CYC1 TTC7A NOP10 MSH2 APC UNC13D TRNW JAK2 MMEL1 MMAB IGHM MPI IFT43 MRAS NDUFB3 PCSK9 FAS STXBP2 ANK1 CFH PTPRC LBR SPIB VPS33A IL6 TET2 ASS1 NDUFA1 FECH ABCG5 MPL GTF2IRD1 PEX12 AP3B1 IFIH1 ETFB PEX19 PEX1 PRKAR1A ERBB3 A2ML1
Protein Mutations 4
C282Y G20210A H63D I148M
HP:0001626: Abnormality of the cardiovascular system
Genes 4077
WHCR CTC1 ABCA12 NAA10 ALOX12B TET2 UBE3A NAA10 MC2R SERPINF2 KCNH2 ZNF423 TSR2 EXT2 NOD2 ATP2C1 SDHC ZNF469 SETD5 IGSF3 PSMD12 BCL10 OTULIN GYG1 FGF17 SGO1 HESX1 FOXP3 CCDC141 PACS1 PRKCD RET PLEKHM1 FCGR2C KCNJ2 GCDH HADHA LMNA MAFB KIF7 RECQL4 MAP2K1 CDH23 PTCH2 ERAP1 GATA4 F5 GGCX ND4L IL17RA TGFB3 CACNA2D1 TMEM70 KCTD1 TUB NDUFS1 VPS13B RAP1B EIF2AK3 EFEMP2 ACTA1 SIM1 CCDC39 GP9 PRPF6 SHOC2 SDHA CNGA1 ANO5 ACTG1 WWOX PDE11A SMG9 PROK2 GNE CHCHD2 XRCC2 LARP7 ARHGEF18 SLC29A3 FGFR3 ELAC2 GDF1 STAMBP PRPF3 CDKN2B KCNE1 VHL KCNH2 KDM5B SPARC BIN1 MLH1 POLG POR GNAT2 FCGR2B F13B SLC26A2 EPHB4 H19 PTEN MPL STAT3 TEK SERPINF2 FBN1 SLC2A1 CDK4 SDHC SYNE1 MYL3 BVES GBA ALB LDLRAP1 LEPR ACVRL1 PIK3CA THOC2 ANKRD11 PDE3A KCNE2 FHL1 SH2B3 PIGS USP9X RPL35A B4GALT7 PAM16 HLA-DPA1 DMD FLNA GUCY1A1 SDHB ECHS1 AKR1D1 BBS1 CFAP410 MYH7 LDB3 TOP3A MAN2B1 POMT1 ACSL4 POLE CFAP300 CWC27 CSRP3 MVK PEX16 PROS1 FN1 GYG1 JAK2 STK36 C8ORF37 CCDC22 TSFM CALM2 SOX2 GATA1 SUGCT GATA4 POR NDUFS2 HRAS TGFB3 DTNA ASXL1 LMNA COL7A1 JAK2 MPI RPS17 HMBS HSD11B2 TBX1 ABCA1 NUMA1 LIG4 NBAS ITGB3 FGFR1 ND5 SDHD PEX3 TRNE DSP AKT3 ACADVL BCL6 FKRP CNBP ATAD3A ERCC2 CAV1 RPGRIP1L ABCA4 ADAT3 MYC STAT5B DNAAF5 GBA CEP57 LMAN1 TULP1 FGF20 SDHB COL1A2 FOXA2 JAK2 SMAD6 STIM1 MTOR MRPS16 HJV ERCC4 DEAF1 MYLK EDNRA KBTBD13 ND5 HDAC8 PEPD LEMD3 F13A1 PIGA VCP SLC17A5 GPD1 KCNJ5 ORAI1 GATA6 NABP1 TKT ARHGAP31 SLC19A2 SNRPB NSUN2 TXNRD2 DSG4 MCIDAS PEX1 PRF1 SYT1 MKKS FERMT3 ANKRD11 ZFP57 ARMC9 LMBR1 NDUFA10 FGA IRF6 TRNC MIF AKAP9 TGM1 DNAJB13 DCAF17 TF CLCN7 ZMYND10 SALL4 NID1 PIGT SCNN1A CACNA1C TRAPPC11 NDUFS1 TRAF3IP2 SLC18A2 FBN2 CEP290 LETM1 SMC3 SDHC TPP2 GLI2 PLCB4 COL4A5 NR2F2 TTN MECP2 SRCAP TBX4 SRY SETX TACO1 COL7A1 RNASEH2B SPAG1 ARL2BP NDUFA9 NDUFS2 SMAD4 F10 TGM5 SCN2A LMNA EPG5 RPS26 FUZ KCNJ5 FAH COX20 COL2A1 UVSSA HBA1 RBM10 WDPCP OCLN RRM2B PPOX TPI1 PSAP TBX1 PIK3C2A GALNT3 SLC35A1 CHRNG ARCN1 FGFR1 ACADL SDHC NDUFV1 HTRA2 SEC23B SPRY4 PARN BAG3 LYST SETD5 POMGNT1 SIK1 GP9 NRXN1 FECH FGFR1 KIAA1549 CACNA1S HLA-B ADAMTS10 NOTCH2 CIITA DACT1 MC1R WNT10A PROC DLL3 CBL C1QBP ARID2 SCNN1B FN1 GAS1 GTF2E2 RPS17 GNAI3 FKRP CRYAB YY1AP1 BMPR1A KDSR CSPP1 BBS12 RNASEH1 TRIP13 IL23R CPT2 ND6 SLC52A2 NEK2 FOXC2 CERKL FLNA ADNP MTAP FANCA MSH6 NDUFA13 SAMD9 COL5A2 POU6F2 SERPINC1 TTC8 NSD2 BRAF PIK3CA KCNE1 KCNJ11 RBP4 SDHAF1 PIEZO1 RBM8A BAG3 SCN4B RAF1 GFI1B MEN1 TERT HESX1 TRIP13 UBR1 PEX13 ELOVL4 TBX5 RAG1 MYLK MYH7 HAAO NXN PRPF31 ALG1 ND5 ATP6V1E1 LRP2 CD79B OTUD6B GJA1 GTF2I PLOD3 TMEM237 PTPN22 PRPH2 LMNA GUSB TRAF3IP1 SLX4 TNFRSF13B D2HGDH GATA1 RAD21 KCNN3 DKC1 SCN5A TCOF1 ALG12 APOE SCO1 PTH1R SLC26A2 CR2 TNNC1 SRCAP VWF SMAD3 CTNNA3 RPS15A WDR26 APOE FANCI TET2 ATOH7 ABCC9 KCND3 TRIO MMP1 TTC8 SCN4A FIG4 MUC5B LMNA GPC3 RET HJV TPM3 KPTN PEX16 CPT1A ATP6 PLCG2 DPP6 DSP OSGEP COL1A2 TRNE MAPRE2 F13A1 LRRC6 FLNA CTU2 OTX2 DDRGK1 HYLS1 MED12 LIMS2 ARL3 NONO PRKAR1A KRT14 DCAF17 APOB MLH3 TMEM231 AHI1 CHN1 CLPB GDNF TAF1A GBA ARL6IP6 RERE NOS1AP TBX6 TRDN TERT LMNA IL2RG TP63 BBS10 HGSNAT SRP54 SLC20A2 NXN NOTCH3 CYTB PCCB HLA-A RPGR TAZ TMPO SCARB2 AKAP9 CD70 TRPM4 BEST1 ABCC8 FSCN2 GABRD ND4 TBX19 MYO18B ERCC6 COX3 ROM1 SIX3 LAMC2 MKS1 IRAK1 CTSH JUP DAXX MYBPC3 CRYAB ALG10B RAF1 EXOC6B ATF6 VAMP7 MYH7 RIPK4 HSD17B10 PIK3CA FTL KDSR SARDH C12ORF57 SLC39A13 CCM2 CYTB DNAI1 SMARCA4 TWIST1 AKT1 PDGFRB RSPH3 FLNA G6PC3 FAM149B1 ANK1 FAM13A CDKN1C SAG KRAS RYR1 KIAA0586 FGF8 RIT1 ARID2 ATP5F1D SNRPB MERTK HNRNPA2B1 STEAP3 PPCS IGH DIS3L2 VPS33B SCN5A PGAP3 F8 LMNA NDP TP63 LONP1 COL7A1 VPS35 TRIM8 CC2D2A ND6 KCNJ18 FANCE ICOS SDHD DUX4 LIG4 KIF23 MKS1 LAMP2 TWIST1 TSC1 SLC4A1 NDUFS2 TNNT2 PRDM6 ABCA1 XRCC2 NAGA ARID1A DHDDS COX7B PEX7 TFAP2B WNK4 ELN DSP FGFR2 FOXE1 ARMC5 NDUFA2 MAP1B BIRC3 GLB1 CNGA3 RFWD3 NEUROG3 NAXD GATA4 GLA SPEG SHOC2 TRDN ND6 F7 PHGDH GBA AKT1 RPL27 SKI NR5A1 PPARG GJA1 COMT ATP6 MVK CFB NAA10 MKKS WAS NFKB2 CYP11B1 AK2 SELENOI TMTC3 ROM1 SOX10 PTEN TGFBR2 CYLD UMPS PIGY ND2 TNNI3 FADD MRPL44 COX1 ANGPTL6 EXT1 CIZ1 DHPS REST ND4 PCNA KCNN4 SDHD TMEM126A GAS2L2 ZNF423 SLC2A1 NUP107 TRNQ FANCB RPS26 CDK13 GJB6 PEX19 TGFB1 KCNQ1 RPS6KA3 USF3 CAV1 KRT16 H19-ICR CYP11B2 LDB3 RYR1 DHX38 PET100 ABCA4 MTMR14 SCN9A GATA5 TMEM237 ERCC2 PCARE DMPK RLBP1 WASHC5 KIT CSRP3 ACAD9 TREX1 DNAAF5 GTPBP3 GSN CD3D PTGIS TMEM67 TERC TRNN CDKN2A NDUFV1 SCNN1B PTPN11 SMARCB1 GJB2 IL7R FGF23 MYL2 RHOH F5 CTLA4 RARA SCNN1G RARB ALDH18A1 PLIN1 HLA-DQB1 IFIH1 CPT1A GLMN SLC25A22 HLA-B IFT88 BRCA1 SDHD ARID1A JAK3 PQBP1 KCNQ1 EPAS1 SPECC1L NDP PHYH BBS7 ITK HEXA PRKCD ACTA1 LAMA4 RDH12 SUFU ABCD4 IDH1 FOXE3 IDUA ATRX GDF1 IDH3A PIGT NPM1 ABCC6 COL1A2 JAG1 MCCC2 EDA2R ANKRD26 ELN SCN5A INSR SLC12A3 BRAT1 FBN1 LIMK1 SERPING1 CEP164 TRNT1 CALR ARL6 TRNF TGIF1 KIZ CDC45 MEIS2 CPLANE1 PTEN TRDN COX3 TOPORS TNNC1 CLIC2 ATR GREM1 RTEL1 VCL PRKAR1A PEX1 MMP1 ADAMTSL1 ATP7B FKTN RGR TGFBR1 TECRL OFD1 TMCO1 SCN11A HIRA FHL1 DCAF8 NEK8 APP KIF7 KMT2D POLG GATA4 HTRA1 SEC63 SCN10A KRAS CHD4 ANTXR1 PTH1R XYLT2 F5 GJA5 SDCCAG8 AUTS2 PGM3 TGDS ELN EGFR RLIM GDF2 IRF5 POLR1C SIK3 CACNB2 SEC23B RPL31 AGL PBX1 HBG1 DPP9 NEXN PIK3CA NLRC4 BMPR2 PTDSS1 ITGA7 COQ2 HNRNPU BTK NBEAL2 KIAA0753 TTC25 TBX2 CRLF1 COG2 MAT2A CASP10 ATRX PRKCSH SOS2 CCDC174 MYH6 RRAS2 CFAP53 COL3A1 TSC1 AHCY RHO BRF1 ECE1 ITGA2B CYTB SLC26A2 PEX6 GJB2 ACTA2 LRP1 GJB6 GATA6 ATM NEB ETHE1 PMS2 MEOX1 SOX10 PIGV TSC2 GP1BB ADA2 AIP NKX2-5 DSP LETM1 SGCG NDUFS4 ETHE1 TP53 SNAP29 RAD51C CDC73 CACNA2D1 MYMK EFTUD2 CEP120 GJB4 SOS2 BCOR FAM111A MYD88 ABCA3 JAG1 TMEM70 APOE IFT81 PYGM PHKA2 PSEN2 NUP107 GNAQ NRL DMRT3 NSD1 HPS3 NDUFA2 KRT5 BBS4 PLEKHM1 BAP1 CFAP221 B3GALT6 TNXB GUCY1A1 PGM1 AP1S1 SCN9A ALDOB ADK KCNQ1OT1 POGZ CAVIN1 CTLA4 FRG1 PRDM16 TGFBR2 SLC29A3 NDUFV2 GNB5 ABCC6 IDH1 NDUFS8 FBN1 GATA1 KRAS SPP1 GANAB CYP21A2 NBEAL2 CCND1 NOP10 MSH2 MUC5B FBN1 PLEC KCNQ1 UNC13D CCM2 LTBP2 JAK2 MMEL1 MYH6 SDHA FZD4 FOXP1 FLNA SPIB NF2 HOXA11 BMP2 FOXC1 WT1 MYH6 SMAD4 CALM1 CCDC151 CLCN2 MPL GNAQ SDHD CREBBP IFIH1 THBD PHYH SRD5A3 EPG5 IL2RG PORCN IDH2 ERCC4 TGFB2 MYO5B PEX1 KCTD1 MLX COX3 KYNU B9D1 SMAD9 TCTN3 GPR101 VCL MAP2K2 TTC37 IARS2 PIK3CA BRAF PDE6H TNNC1 DOCK6 SERPIND1 VPS33A TRNL1 TGFB1 TINF2 CERKL PRKG1 PHOX2B EBP GM2A AGT PDCD10 CHKB DNMT3A BAG3 LMOD1 GBA CPN1 AIP MYOT ALKBH8 TACO1 AGA GJA1 RPS20 ACTN2 IL7R BMPR1A BMPR1A LAT DNAAF4 NDUFB11 LCAT PEX11B B2M ND1 MAP2K2 DOCK6 PIK3CA NFIX POMT2 ELP1 SETD2 DCLRE1C HBB MEN1 CAV3 COL4A1 RPS10 HFE TSC2 FASTKD2 GCH1 FGFR3 IRF8 SCNN1B HABP2 RHAG SCNN1G ACADM OTX2 FBP1 PDSS1 NDUFA11 MTM1 KCNQ1 MARS2 TUBB DSG1 COG8 ND1 SLC7A14 CASQ2 TJP2 NDP WDR60 ACTG2 LMX1B MYOC MAF NSD1 TGFB3 EIF2AK4 FGG TMEM126B MEFV NCAPG2 CDKN1A CCBE1 TMEM216 IRF8 CA2 PSEN2 RAG1 PIK3R2 NEK1 RAF1 FGFR1 FGA APOA5 STAT3 FBN1 CENPF TAZ POLG2 SCAPER SEC24C RAB3GAP2 FLNA CRB2 C1R HPSE2 APOA1 B3GLCT NF1 NF1 CIB1 AGK POLG ADAMTS3 SCN5A MAP3K1 CAV3 KCNH1 MMP21 CFTR FANCC AVPR2 ZNF469 TNFSF11 SDHA SDHB SDHB BBIP1 SPTA1 FBLN5 RS1 KIAA0319L NDUFA12 MKKS NPPA MED25 CHST3 GP6 BCOR LTBP4 SLC25A4 MTRR ALAS2 DLEC1 B3GALT6 PIEZO1 SGCD COQ2 ARX AKAP9 BRCA2 VPS13A PTPN11 GNB5 DISP1 AGK SH2B3 IFT172 MAP2K1 SMARCE1 STIM1 PDE6G FIG4 KRAS DNAH5 PRKAG2 PSMB4 DNASE1 DMD ADGRE2 ELN LRP5 PTEN LMNA WNT5A DCHS1 CAV3 COQ9 PROM1 PIGP PSMD12 PEX10 NPHP1 MEN1 CHRM3 HADHB SALL4 TELO2 FHL1 TTC25 GPX4 ALB DCC KIF1B RAB27A KIAA0586 CASK SLC2A10 REEP6 SLMAP RREB1 FOXE3 TWNK CST3 CLDN1 LFNG RAF1 SLC35A1 IGF2 FANCC CD46 PGM3 KLLN LRP5 RPS7 RAI1 POLH COL2A1 WRN SARS2 GP1BB KCNA5 KRAS CDKN2B CA2 RPE65 DDRGK1 COG5 ND6 USP18 CACNA1S TMEM231 HYLS1 PALB2 UBR1 C1R PRTN3 MEFV USP8 FGFR2 ABCC9 HOXD13 ENG CD109 C8ORF37 DSG2 TBXA2R OFD1 TP63 TMEM107 COL3A1 PTEN SMPD1 MITF SDHC PRDM16 FLI1 CRPPA STK11 STAT3 MYL4 NFE2L2 CALR ITCH PEX6 ZAP70 PTPN22 COPA PIK3R2 CC2D2A HFE PRKAR1A SCO2 KIF5A PEX2 BAP1 PSAP USP8 SLC29A3 HLA-DRB1 PML NKX2-5 ARFGEF2 SFTPA2 GATA4 AKR1D1 SMARCAL1 SC5D ATP7A SPTA1 SLC39A13 RERE BACH2 NDUFS4 MYH11 SGCD RPGR IGF2 TDP2 TERT INTU GSN FANCL SDHB ATRX FUCA1 MEF2A ELMO2 CRTAP SERPING1 NSD2 MECP2 GLRX5 MNX1 CASP8 TTN HADH CYSLTR2 SMARCB1 RAP1A WDR11 KLF13 SERPING1 FLT4 PEX5 USB1 SLC22A4 FSHR ALOXE3 HBB PSMB9 NRXN1 ANOS1 CHST3 KRAS IGH ACVR2B FANCI HSD3B2 SCN1B GNS POLG2 IRF8 TIMMDC1 ATP11A TNFRSF13C CEP120 PROKR2 MAP3K7 CD27 SGSH ACAD8 NFIX NOTCH2 USB1 TMEM67 ADA WDR35 COQ2 CEP290 CCDC115 NGLY1 CCDC22 TF POMT1 IL2RG NCF1 SCN9A F2 ERMARD TGFB2 INTU RB1 MYH11 ACTA2 LIFR FGA TNFSF11 SCN2B TMEM231 PIGV NT5E MYL2 PROP1 SF3B4 COL1A1 CHRNA7 PDSS2 LMNA CNGB3 AMMECR1 TRIM32 SDHAF2 HBB TNNI3 GNAS MGME1 SDHA TPM1 FANCD2 COL3A1 LTBP4 CYP24A1 BBS2 POMT2 SMAD4 NHLRC2 PRKAR1A ITGA8 MIB1 SEMA3A SDHB PAFAH1B1 SDHC TRNW PPP1CB THPO PEX6 RPL11 MYPN IL2RA BCS1L CYLD APC2 MYPN RSPH9 SAMD9 TMC6 PACS2 TRNH ATP6V1A GATAD1 DNAJB11 NLRC4 GPR35 TBX1 ATP6 TFAP2A HCCS NEB JAK2 KCNJ5 FLNB PIGT TBX3 NPHP1 MEGF8 TTN ACTA2 NLRP3 TBX3 APOE TCIRG1 AHI1 PLN IL17F PKLR NPHP3 CDC73 IRF5 FAS MRE11 NPHP4 FBN1 ALOXE3 PROC HADH MYPN RBBP8 BBS5 PRKACG AIRE COLGALT1 GTPBP3 SFTPB FADD RYR2 RNF168 IFNGR1 GAS8 PEX16 COL1A1 XRCC4 SOX3 DSP AGTR1 KCNJ2 TRPV3 CRKL SURF1 TNNI3 CYP11A1 MYH11 TALDO1 TPM1 LHX4 POLG NR3C2 ENG C8ORF37 ARID1B PEX5 SGCB SCARF2 PEX13 ESCO2 ISG15 AMMECR1 JAK3 FGA XK TNFSF15 CEP104 XPR1 TNFRSF1B DDB2 AVPR2 EVC2 COL5A1 PRKAG2 BSCL2 AHCY LYZ PLCG2 SOX10 MYH7 IL12A LRRC56 FASLG ERCC6 STOX1 HSPG2 BUB1 BBS2 IGF1R FMR1 KRT5 BSCL2 RP9 HSPA9 FGFR2 SCYL1 COG7 MYH7 HYDIN PSMB8 SLC2A10 CPS1 IL12A-AS1 SOX18 WFS1 PPA2 GPC4 SUFU MKS1 COX10 DOLK PEX2 POLA1 ESR1 RPL15 HBA1 WNK1 KMT2A NEUROD2 WDR19 ASCL1 CRELD1 NDE1 DNMT3A NEDD4L UFD1 SCNN1A RNF135 SMAD4 LRBA FGFRL1 FGFR1 HGD CSNK2A1 DHCR24 TPM3 RBCK1 TNNT2 NFKB2 CASR TBX20 SLC25A26 FGB IFNG HMCN1 PALB2 RAG2 FAT4 FCGR2A C2CD3 WNT5A POMP ABL1 ATP6 ZDHHC9 DES RMND1 NSD1 SCYL1 NDUFS2 RTTN ARSB EWSR1 AAAS CAT LORICRIN FGA CTNNB1 COX2 PEX19 PRCD PORCN SEMA3E FGB CACNA1D EPB41 EED NPHP3 FGF8 ASXL2 EVC TNPO3 SLC25A4 VWF SMARCB1 ZNF513 RPL5 AQP5 IDUA GJC2 MMP2 HBA2 MRAS SPECC1L LAMA3 ERCC4 MKS1 STAT4 F2 MAFB KCNH2 STK11 CSPP1 NRAS BTD BTK ND2 RPS6KA3 SF3B1 RAC1 NAA10 CD19 STRADA RPL26 DLD DTNBP1 SUFU NEBL NLRP12 ABCA1 GBA PDE6B RPS24 HMGCL FAT4 GBE1 PCCA SNCA DNAL1 KRT1 TNNT2 OTC BTK CYP11B2 AGGF1 UROS F8 LRIG2 SALL4 CANT1 IL36RN KIT ALPL LMNB1 ERCC5 DNAAF3 BMPR1A CYBB FRA16E GPC6 SMARCE1 ELN RPS28 PDGFB NDUFAF2 LMX1B HLA-DRB1 FKRP PAX3 KAT6B NOTCH1 HLA-DRB1 MYH7 FOXRED1 NECTIN1 EIF4G1 PLN TAPT1 WRAP53 SCN5A KDR DST SLC25A24 RFC2 SMAD3 ERBB3 ERCC3 KIT PUF60 ETV6 STK4 CCNQ F2 ND6 INPP5E CCDC40 ADAMTS10 NEK9 FKTN BEST1 XYLT2 PEX3 SOX18 DSG2 DPM3 TRNL1 GNPTAB CRELD1 GNA11 TRNW DLL4 TBX22 CTNND2 MICOS13 PNPLA2 PTPN14 ZFPM2 LIPA POLR1A PPCS HAVCR2 IL10 TMEM237 SUMF1 POMGNT1 KCNAB2 GUSB CHD7 BRAF AGPAT2 HBB ENPP1 SF3B4 MAB21L1 ARID1B MYH7 NLRP3 RIT1 HPS5 INS LAMB3 CALM3 SHANK3 SLC37A4 CSRP3 CHRND CEP290 AARS2 JAK2 ATP8 ARMC5 SHPK TOPORS ISCU GJB3 IDH2 GNA14 STX16 OFD1 CPT2 FGFR2 PIBF1 ESCO2 TCTN2 LRP5 TKT USP45 SCNN1G NSMCE2 MPL TWNK PRKCH CYP3A5 SFTPB DNAH9 SLC40A1 NCF2 DUSP6 TP53 RAI1 AFF4 PDE3A SURF1 TRIP4 GDF3 BANF1 BBS1 DNAAF1 CYP11B2 NPHP1 RIPPLY2 CD79A SIM1 BRIP1 DCTN1 DSG2 CCDC114 KRIT1 PDGFRA ALG8 NKX2-5 AGT ADCY5 APP HGD TALDO1 RNF6 BRAF DHCR7 BUB1B RSPH1 TNFRSF11B ACTA1 TPM2 ND1 ERCC2 STIM1 HSPG2 OBSL1 ADCY5 STAT1 CCDC114 IL12RB1 CD244 C4A CALR POT1 INPP5E CA4 TRNK CD28 TTR GALNS ABHD5 EYS KCND3 EHMT1 PROS1 MFAP5 CALM2 LIPA CDSN MKS1 PRRX1 FLII TMEM237 PKD1 SLC4A1 SP110 F10 TMEM43 MGAT2 CXCR4 MED25 POLG CD55 CCDC28B SCN1B FOXJ1 TBX1 TLR4 IFT27 PAFAH1B1 NF2 RBM8A FANCB NDUFB10 NDUFAF5 COG4 SDHB ZNF408 ITCH MCTP2 RANGRF ITGB3 PSEN1 TSC2 FLT4 RASA1 COA8 TFRC TCTN3 KDSR ZNF148 KCNE2 KCNQ1 NKX2-5 STAT4 EZH2 ARVCF ND4L ZNF687 ZAP70 TFAP2B RNU4ATAC POLR3A CDKL5 COL4A1 RNASEH2C TBX1 COL5A1 TREX1 MYOC SEC23A SLC7A7 CYBA HFE NLRP1 MS4A1 MYH8 PUF60 COL1A2 BTNL2 BPGM TRNS2 NR3C1 HRAS HDAC4 KLHL7 NMNAT1 TNFRSF4 CFHR3 FGFR2 NLRP3 PRKG1 HBA2 KIT IFT80 CITED2 PHF21A NR3C2 ELOVL4 FKBP14 KLHL41 EXTL3 GP1BB MYRF KRAS SLC52A3 PIK3R1 STX3 DMD JAK2 HCCS SMARCA4 C12ORF57 SLC25A4 PLOD1 SDHD SALL1 GP1BA IMPDH1 IFT43 NDUFB3 PCSK9 FAS KRT14 CDON IL6 GP1BA ASS1 ABCG5 VANGL1 TRNK ERBB3 A2ML1 TCAP GJB3 DNAI1 MYH9 COL1A1 COL5A1 IL17RC TCF4 TRNS2 XYLT2 RRM2B OTUD6B NFIX TRPS1 CFC1 ALX4 TACR3 MPL TNFRSF11A IFT172 EDN1 NKX2-6 LIPT1 ATM CAP2 CEP290 NDUFA10 CCDC39 DNAH11 CHD7 KCNJ11 PROS1 SOX10 SETBP1 DES PEX10 MALT1 PKLR ASXL1 PLP1 SERPINC1 SLC4A1 SPAG1 HADHA DNASE1L3 SUFU FOXP1 PIEZO1 ATP6 PRPF4 GMPPB SCN5A NKX2-5 VWF NFIX KLF1 MED13L EVC LOX ALG9 PTPN11 SOS1 HEPHL1 GINS1 GLI2 SEMA5A FASLG SNRNP200 BSCL2 F2 TNFSF12 KIT ARMC4 NDUFS3 SMN1 AEBP1 KIAA0556 EPHB4 ND3 CHRNA1 EMD ACTA1 COX6B1 TCOF1 SPTB ANTXR1 KCNK3 HSPG2 RPGRIP1L KCNE1 ABCC9 AEBP1 RPL10 EPHB2 TGFBR3 CAV1 NFKB1 DNAH11 KDM6B P2RY11 FBLN5 NDUFS2 TRNS1 SOX4 PTPN11 ARMC4 RAB23 PSAT1 STAT3 FKTN JAG1 MNX1 NRAS MYH7 HIBCH SSR4 ZIC2 KCNJ8 BLM GJA1 FBN1 GNAS SYNE2 ESCO2 TPM2 AGXT GCK IFNG RPS19 MRPS22 B9D2 GATA6 POLH ARL13B TNFRSF1A IDUA GPI NNT GPX4 SOX4 MPL STRA6 RUNX1 ERCC3 PNPLA2 FOXF1 SOX3 GP1BB CTNS PPP1CB KCNE5 CYP17A1 CDK10 BRCA1 CFAP298 RERE DVL3 STXBP1 RFWD3 COL4A2 SMPD1 ICOS F12 DKC1 TXNRD2 SCN2B SMAD4 NRAS GPC3 XPC PRPH2 ARL6 LMNA SULT2B1 CSF2RA PMM2 EXT2 EXT2 FLNA SRY GGCX HYLS1 SCN5A CCR6 FLNC COX7B TPI1 WRN VHL BCOR AP1B1 MAPT EPHB4 MMUT COG4 SPINK5 NDUFS7 NPHP1 VIPAS39 SCN5A APOA1 GLI3 GFI1B GPC3 RARB GDAP1 PIEZO2 MAPK1 TAB2 DSC2 PHKG2 KRAS PPP1R15B FAT4 FIBP DVL1 EOGT TRNT HLCS EDN3 CDON TANGO2 THOC6 RET TAF2 ATM IL6 ARL3 AKT1 MYH9 THPO LONP1 CYP27A1 TERT KCNA1 TPM2 ITGA2 RYR1 FBLN5 ND2 EYA4 MLYCD LPIN2 RB1 IFT172 TBX1 SP7 GNE H19 PDE4D NDUFAF3 ABCG8 RBM10 LMNB1 GAA CHRM3 UBE2T DMD SERPINA6 FLAD1 TMEM67 SCNN1G CD79B PIGO RPL18 WT1 LDB3 MAP3K20 FBN2 IKBKG JUP GREB1L CC2D2A GDNF GATA6 FANCE RIN2 ACAD8 FLNB SCN1B ARF1 KIF11 POU3F4 DHCR24 FAM161A GJA1 CHD7 TERC DCDC2 EDNRB PTCH1 MPIG6B CYP1B1 GNAS MYH7 FOXRED1 MAP2K2 SRD5A3 CARD9 SOX9 SNCA MED13L DNAAF4 RRAS NOD2 KCNE3 TBC1D24 SLC19A2 AKT3 RIN2 MGMT RPL10 RPL5 KIF7 WDR60 PRRX1 TCF3 COA6 KYNU GRIP1 ACTC1 HAMP CDAN1 BRAF ADAR TRPM4 PARN MYLK COL3A1 TXNL4A TPM2 ENPP1 TRMT10C ZNF365 CAV1 SLC25A24 STX11 DHCR7 ADA2 TSPYL1 COL6A1 RLBP1 SH3PXD2B DNAH1 PMS1 FGG SLC25A20 MTFMT COA5 RPS6KA3 COL4A1 SAMHD1 TAB2 GPR101 NDUFS8 COQ2 ND1 LMNA MYH7 NT5E ADAMTSL2 GTF2H5 SON FANCM LDLR RET GGCX VHL ABCA1 ADD1 ARHGAP31 HCN4 PSEN1 SOX18 CTLA4 RPS15A SOX9 ZMYND10 EPCAM KAT6B MPLKIP GLI3 AKT1 ARL6 LZTR1 MYF6 FLRT3 RASGRP1 MTHFR PDHA1 CENPE NDUFB11 TNFRSF11A TTPA IL10RA PCNT HLA-B PEX1 COL2A1 CACNA1C SON UPF3B IRF5 BGN BCHE TFR2 TREX1 SMAD6 BTNL2 CLRN1 FGFR1 SCN5A KMT2D NEXN CYBA KAT6A CPOX ARPC1B PPP2R5D FGB VPS45 PLG TAB2 PGAP2 DNAAF6 PYCR1 LYST TP53 ND4 RPE65 RPSA TANGO2 TBX1 JAK2 MRPS14 IL17RD LYST RNASEH2A SPATA7 LMNA ACTC1 DSE PIK3CA RPL10 AHR C2 SDHAF1 CYP7B1 CACNA1C PALLD GATA6 HPGD GNAS TTC7A FARSB PRCD FGFR2 GATA1 MED12 ARX ALG9 BPTF ABCC9 PEX5 CLCN7 FMR1 TPK1 SEMA3E CCN2 NUP155 G6PD EED MTHFR DMD CCDC103 LIPC TPM1 KLF1 WT1 RNASEH2C DOLK GABRA3 DYNC2H1 GPC4 OFD1 ND5 IGHM HEXB ATP2C1 PDGFB CTSA B2M PHOX2B SDHA ABCC9 ACTB BCR TRAF7 RRM2B NOTCH3 MUC1 SDHD DDX59 MAP3K7 CTBP1 NOTCH1 CRX DPM1 ATP8B1 CRB1 NKX2-1 PEX12 MTTP TRNS1 ESS2 DPF2 CAV1 IDUA RNU4ATAC ELN SACS MST1 TGFBR2 ECE1 HADHA DNAH9 TCTN1 TNFSF12 GATA6 PEX19 KCNQ1 NAGA WT1 APC TRIM28 DES NLRP3 CTSK IDH3B LOXL1 RYR1 LMNA BMPR2 DPM3 RECQL4 MVK KCNQ1 SFTPC FLNA COL11A1 GNAO1 PALB2 EBP PAX8 TK2 TMEM67 TEK NHP2 CFH HBB DCDC2 TDGF1 PARS2 FLNA DCLRE1C CLCF1 COL4A4 NR3C1 CYP11A1 TRNQ COL6A2 CHRNA7 COX8A PQBP1 PTF1A WAS KDM6A TGFBR1 ATP6AP2 IL12A NTRK1 HLA-DRB1 SLC25A20 FZD2 FGD1 ALMS1 GALE NRAS HES7 PCNT MAP3K7 COQ4 ADA2 SMC1A TGFBR2 GMPPA GFI1 HACD1 RNF125 FANCD2 FKBP14 SOX2 SCN3B NEK1 VHL GLA CDC42 TERT FERMT1 ERCC2 SLC25A11 KCNE2 GUCA1B ABL1 STXBP1 ASAH1 ATP6V1B2 PDE8B ND1 FXN CDKN1B NEK9 FRAS1 DNAAF6 IL1RN PDE6C FSCN2 PLOD1 FIBP EXT2 FLT1 FN1 FBN1 DGUOK GJA1 GBA WASHC5 MTFMT GATA6 GLUL GJA1 FLNC KRT2 CDC42 SLC4A1 CCDC8 TRNS1 TRDN KCNMB1 TFAP2B LIPA CFAP298 GATA2 TP63 ACTN4 AHI1 CKAP2L ZBTB16 NOS3 FUCA1 KIAA1109 HS6ST1 BMPR1A DNAAF1 ACTG2 SIX3 CAPN5 PTEN TREX1 SEC23B APOC2 XPA GLB1 RPS27 PCNA HMBS LDLRAP1 PTPN22 RAI1 INPPL1 HYOU1 MGP HPGD C1QA ELN CBS CYP27A1 RAG2 TERC LOX COX1 XPC KCNN4 ENG BUB3 NDUFA11 FANCA DYNC2LI1 GJA5 CCN2 ELANE NEXN GPD1L RAI1 MASP1 CCR1 MAD2L2 PKP1 CCDC103 GJB4 KRAS FOXP3 CD3E CD19 SMARCC2 TRNV KCNE3 PCCA HLA-DRB1 GCLC COX14 CTSB CEP57 TLL1 WNT4 WIPF1 SLC25A13 BCL11B TTN LMNA CDKN2C GPC1 F13B SF3B4 JUP SCN5A GJA8 OPA1 CEP55 NLRP3 KCNQ1OT1 ALPK3 KDM6A NDUFAF4 BBS2 NGLY1 ATXN7 CCNO GATA1 BBS9 NDUFAF1 ALG1 PEX26 TAZ POLR1D ATIC EPB41 ACADVL SLC25A3 SIN3A CPT2 PITX2 WFS1 NRAS CISD2 GLRX5 LRRC8A COA8 SELENON SH2B3 OSTM1 POMT1 SMOC1 MRAP FIP1L1 TBL2 CPOX PNPLA6 SPTB TWNK PMPCA SFTPC MSX1 ITPR1 TBL1XR1 XPNPEP2 ATPAF2 TWIST1 MDH2 PRPF8 ICOS STRA6 SCN3B YY1 FCGR2A FBXL4 XPA AFF4 CLIC2 RASA2 SLC20A2 SOX2 TRNW NDUFAF2 GMPPB CLCN7 KLHL3 SOS1 XPNPEP3 ARNT2 PRKCSH GNE ARSA PEX7 COX15 USH2A CCBE1 SMCHD1 SNX14 ELANE ADA2 COL18A1 NME8 RAD21 NDUFAF3 DPF2 PIGO ERCC3 ALDH18A1 FANCF CARD11 WDR19 COL2A1 PLVAP FAS CTSB PDGFB CLCN7 ADAMTS2 DNAL1 IGFBP7 PCCB HLA-DPB1 HCRT DLST CSTA MC4R ADA TMEM138 SLC35A2 AMER1 CFI HOXA13 RSPO2 NDUFAF5 COQ7 CYP26C1 MECP2 KCNJ11 ERCC2 TP63 LMX1B ITGA3 ENPP1 RPGRIP1L TRNK RAI1 TRNL1 SPEF2 SYNE1 NDUFS4 RASA1 SLC26A2 COL6A3 F9 PIK3R1 CHST14 GNAQ ERGIC1 PRDM5 SDHB PRKAR1A SLC7A7 KCNQ1 CDH23 ZNF513 IQSEC2 SAA1 ATP6V1A LBR CEP120 MYH6 ANK1 RNF113A TNXB ANK2 IRX5 GDF2 ALMS1 TRIP11 GBA HBB CASR WT1 SALL4 PUF60 PNP HOXA1 TRIM28 PSMB8 MCCC1 LARS2 NOTCH3 PIGL CYP11B2 DNAAF3 KIT AGA IFT172 PDE6D TRAC ASAH1 NPM1 IKZF1 GATA6 TTC8 TPM3 GLB1 WNT3 CLRN1 EOGT ZEB2 NAGLU MLXIPL SCN10A EDA SCNN1A LMNA CDH23 IKBKG PACS1 TXNL4A ALX1 TGFBR1 PPARG CYP7A1 EBP ELP1 NDP BAZ1B MYH7 IL12B MAX POU1F1 TMEM43 SCN5A CHRNG MEN1 SLC22A5 ATP5F1E CPLX1 CUL7 WDPCP ACTG1 YY1AP1 ADAMTSL4 AIP BOLA3 CYBB PTEN ROR2 PQBP1 SDHB OTX2 ABCB6 GLB1 RET ANK2 POLR1A IGHM IFT140 POGZ ANK1 NR0B1 MAP3K7 CFH LBR PPARG MYOT LIPN NIPBL TET2 NDUFA1 DOCK8 LRRC6 GJA5 GTF2IRD1 ATP6V1E1 LMNA GP1BA PRKAR1A CCDC65 NDUFS7 GATA6 ATP7A RP1 MYORG SOX11 CD40LG GATA1 IFNGR1 GMPPB TWNK DNM2 CFI IVD SIX6 CHD7 NEU1 RBPJ CLEC7A PSAP HSD3B7 EXT1 PKP2 IDH2 ANTXR2 TP63 STN1 NF1 PLEC VCL NDUFV2 CALM1 CR2 PIEZO2 LACC1 ABCB11 DSE KRT8 CASK ZMPSTE24 GBA CCND2 PPP2CA LRP5 TMEM43 TOP3A SCN1B RPL35A DPH1 TCIRG1 GLIS3 CFI MYLK2 CHST14 ADA GATA4 DNAI2 DNAH5 CTSA TRNK MRPL3 TBX1 KCNJ2 DNAH1 RHO COL1A2 AIP CLCNKB COX2 ITPA KRT18 FKTN MID1 PRPH2 UROS PAX3 PIK3CD CORIN USH2A SBDS GNPTG CD81 MYH11 LRP5 LRRK2 NCF2 FHL1 VEGFC H19 KCNH2 TNFRSF1B TGDS RMRP SH2B1 ANAPC1 NKX2-1 CKAP2L VHL SNIP1 SPINK5 CACNA1S SMPD1 HRAS GNAI2 RPL35 DNM2 CBS RPGRIP1 UBE2A NDUFB8 COX7B ACADS CEP41 LDB3 INPP5E PIGN DGCR2 HADHA HMGA2 TTR ALOX5AP RPL26 POLD1 SMC3 KANSL1 F5 IL7 SOX5 SLURP1 TSC1 RAF1 HNRNPA1 GLI3 ACTC1 AKT2 TNFSF4 FLNA PIGN ZFPM2 TET2 UMPS HLA-DRB1 TRRAP SLCO2A1 BMP2 SELENON CAV1 IFT122 HAVCR2 PEPD ACAT1 LMNA ACVRL1 LPL DIS3L2 PIGA GNPTAB PHKG2 COL5A2 KRIT1 CCR6 BMP2 TBCK SNX10 COG7 APC GATAD1 MITF FGB FHL2 NDUFV2 CALM2 TERT ERCC4 TSPYL1 LRP2 DRC1 SDHD SDCCAG8 GBA NPC1 FZD4 PEX5 ZFPM2 LIPC HES7 LAMA4 GLI1 HPS1 HBA2 ALDOA TET2 DVL3 RAB23 TFAP2A CALR FGFR3 NDUFAF6 FBLN5 EMD LPL KCNJ5 TREX1 SEMA4A PKP2 RPL15 FMO3 SMCHD1 MEGF8 HGSNAT MMUT PEX26 NONO DGCR6 SMARCA2 SLC19A3 GPC4 RPGRIP1L MPL FOXRED1 CACNB2 WDPCP CCDC40 SLFN14 PEX2 NFKBIL1 XYLT1 NSDHL G6PC F11 MCM4 ANTXR1 HLA-DRB1 AMMECR1 PPARG DLL1 SOX9 SBDS OTC COX4I2 SH3PXD2B STING1 DIS3L2 RAD51C NDUFAF1 ABCC6 LAMP2 CYBC1 MAX WAS FOXE3 SP110 DVL1 RECQL4 IL2RB PIGL RPL27 LCAT NKX2-6 CCND1 C3 XYLT1 DGCR8 KYNU PKD1L1 FRAS1 TRNF CD247 COL1A1 NDUFA6 B3GAT3 DNAJC19 APOB DHODH AK2 RSPH4A COLQ BEST1 BNC2 RPL11 CRYAB CNTNAP2 SKI CYTB CYP17A1 COL1A1 MESP2 PKHD1 TNNI3 PPP2R1A CFHR1 CTCF GLI3 CD96 KDM6A FRG1 RPS29 PRKAG2 MYSM1 DNAI2 GJA5 ND4 KIF1B ZMPSTE24 COL11A2 VHL AQP2 LBR DDC SRP54 SMAD3 SLC12A1 WNT4 SLC39A4 KITLG NF1 WWOX ABCC6 COL3A1 GATA5 BIN1 PDX1 SDHA PEX14 SNTA1 PIGW MYCN CASR BCL2 CEP19 SF3B1 GMPPB INVS NDUFS6 POU2AF1 F7 CLIP2 ERCC8 MED12 KRT9 HSD11B2 JUP GYS1 TNNI3 NPHP3 CAVIN1 MVK COL4A1 CP TMEM127 GYPC MEOX1 ATP5F1A CD28 ACTC1 NDUFB11 HTRA1 CEP290 TMEM127 SHH STAR LMNA FOXH1 RHAG TMEM260 CRYAB MYOZ2 TBC1D24 UBAC2 FBN1 GATA4 NOTCH1 MED13L NLRP3 SNTA1 PNP MBTPS2 TSC2 IDUA NDUFS8 GNA11 UBE3B HSD3B7 RAG2 RMRP KCNQ1 PEX7 HLA-B NAGA KRT10 DNAJC13 PRKAR1A ATRX NEU1 FLNA BCOR ROR2 TRPM4 ACD SEC61A1 STEAP3 BCOR TARS1 ATN1 RET DLD OFD1 NOTCH2 APP P2RY12 KCNJ18 EFEMP2 B9D1 KRAS RNASEH1 POLG PLEC PDGFRB MYBPC3 IGH USP9X PIGN SDHA XIAP TBX5 TCIRG1 CPLANE1 ACTA1 BRCA2 KCNJ1 DLL4 MYPN TRPM4 DSP POMT1 CALM1 MGME1 SLC39A4 EPB42 C1S EMG1 RNU4ATAC LRAT SLC37A4 FTO ARID1B MYPN KRT14 TECRL NFU1 PDE6A DDX11 RPS19 ARL2BP HPS4 GDF6 PRKCD AIP NSMCE3 UNG SGCG SGCD LMNA CASQ2 TTC8 SLC25A11 NUBPL TCTN3 RBM20 FMR1 CCDC47 KAT6A PTCH1 HESX1 RAG2 RPGRIP1 HIBCH NOS3 DES FAN1 H19 NFIA FERMT1 RYR2 DPH1 CYP7B1 ERF TULP1 CUL3 COL4A3 ADAM17 VPS13B ND1 BLOC1S3 COL1A1 ATP6V0A2 CTC1 GATA4 TCAP LIPT1 VAC14 SUZ12 CFTR MANBA FGFR2 KCNJ2 GNAQ IGLL1 KCNE1 TMEM94 FREM2 PRDM16 FGG BTD PLAGL1 AGXT PDCD10 HK1 GP1BA FOXC1 PTCH1 TSC1 AGPAT2 SMC1A MEFV PDGFRA PDE11A SPEG AGTR1 GNB3 BAP1 ATP7A IGBP1 POLR3A DNAAF2 TRAIP GGCX COQ2 YWHAE ABCB4 SCNN1A CPT2 PEX6 RORC CCDC141 YARS2 DCLRE1C HYMAI MAK HABP2 KCNE5 GATA5 FEZF1 XRCC4 SKI IDUA APP WT1 CLCNKB FOXF1 FLT4 NKX2-5 PRKACA SLC25A4 ENG SDHD UCP2 MFAP5 TNNI3K PKD2 THOC6 TRNL1 GPIHBP1 RYR2 NELFA LEMD3 MYH3 SMAD4 AMER1 HDAC8 GNAS ERCC6 ATP6V0A2 BRAF WNT10A KISS1R SETBP1 RANBP2 KRAS ERCC5 POMT2 TGFBR2 RFT1 LZTR1 DVL3 EVC2 STN1 PTEN ND2 SEMA4A EPB42 AKAP10 APP RNASEH2A B3GLCT HCN4 C4A KDM1A LTBP2 DNAJC21 ITGA2B GDF1 NDUFB11 ABCC9 GPC6 FOS RAG1 TTN BRCA2 IDH3B DDX58 HELLPAR CACNA1D HCN4 FBN1 SFTPA2 CASQ2 FGFR3 NDUFB11 JMJD1C MEIS2 RAF1 PROP1 CD46 RSPRY1 DGUOK MBTPS2 PHGDH ITGA2B GPD1L ND3 KRAS CTCF NODAL DSP STAG2 KCNQ2 FUT8 RAD21 ND5 FAS NCF1 PROC CITED2 RAD51 CALM1 SCN1B GIGYF2 CACNA1H LRP6 INHBA CD2AP PIGL LTBP3 DYRK1B PIGQ SGCB ZIC3 PROKR2 PCARE HYMAI PRPF3 FBP1 SMOC1 SYNE2 LBR LRP5 CCND1 ITGB3 ABCG8 CST3 TRMU PLD1 LAMB2 WDR34 SLC52A2 ADNP CCDC151 LEP KRT5 IRF2BP2 TCIRG1 LRRC56 CTNNB1 C2CD3 SPATA5 CALM2 FKRP NKX2-5 COG1 CYP11B1 NDUFAF4 TRNL1 FGFR2 FGG MOG ASCC1 LEMD3 ACP5 MYMK HADHB ALDH3A2 LAMA2 WIPI2 SCO2 MGP POMK RNF113A MYH6 ALX3 BLM CDKN2A HBB TNFRSF1A FLI1 KIF15 RPGR RYR1 SH2B3 ABCD3 FGFR3 BRAF ABCC8 FXN SUMF1 PITX2 RGR CSF2RB KRT1 PEX14 RAG1 WARS2 ZMPSTE24 ANKS6 CDKN1B FGFR2 TRIM37 PSAP FLNC ABCC8 STAC3 EYS PLN CYP11B1 AICDA ARX PLIN1 SPECC1L TERF2IP DYNC2LI1 ACTA2 PDGFB TRPM4 SLC25A3 CACNA1D NDUFB9 TRIP11 ITGA8 PAX6 SEC23A RUNX1 DOLK HBG2 MMP14 PADI4 RP2 PIK3R2 HNF1A NKX2-5 ATP6AP1 TMEM216 HNF4A CEP41 STRADA CTLA4 ZIC3 KRAS IDS NOTCH3 FOXC1 PET100 EP300 NKX2-5 NLRC4 COX15 SCN10A SCNN1B NODAL GATA4 MBTPS2 DNAJC19 PRF1 NAGA PIGM PMM2 LMNA HLA-DRB1 PAH FOXC2 IQCB1 KRT83 KLRC4 NOS3 SAMD9L MYBPC3 CITED2 KIF1B SLC30A10 TAF2 PLAGL1 PIGY FGFR2 LZTFL1 PDE6A ACE PDE6G ACTN2 MCFD2 PERP IMPG2 GATA3 RBP3 MPLKIP ALDH18A1 HBA1 ROBO4 MTO1 IL7R NDUFS3 ACAD9 HRAS HPS6 NLRP3 GDF6 RHBDF2 ACTB RYR1 IFIH1 JAK2 WT1 POMT2 LIG4 TTN SELENON DBH KCNH1 ITGB3 SPRY2 STAG1 FBN1 EFTUD2 WT1 BCR TNNT2 ALDH18A1 CACNA1S IGF2 NIPBL NR2E3 BLNK ANKRD1 SLC26A3 PCGF2 TMEM126B LIAS EYA4 KLHL7 DNAAF2 CTLA4 CNGB1 HIC1 DYSF CD81 DSP NOTCH1 ATAD3A DBH PRG4 EHMT1 NCF4 SMAD4 AGBL5 TTC37 TMC8 TNFRSF13B PEX12 POR INVS RDH5 MINPP1 PTPN22 ATP7A TRPC6 F13A1 ACTA2 OFD1 TET2 CFAP300 CFHR3 TUBB IGF2 ANO10 CC2D2A TNFRSF13C NSMF SKIV2L SFTPA1 AIPL1 CLN3 SLC12A3 RTEL1 TCTN2 TPM3 GBE1 DDB2 TRNV PIK3CA NPC2 KCNJ8 SMAD4 AP3D1 SGCA IL10 PEX11B RAG1 RBM20 F5 CDHR1 CASP10 CHST3 HAMP SH2D1A GBA ATP6V0A2 ROR2 COX3 C15ORF41 PPA2 SCN4B CYP11B1 CCNQ TGM5 NDUFA4 FH COG6 COG4 LZTFL1 LMNA CBL CFHR1 PLAU COL4A3 DMPK AIRE RNF213 ZFPM2 FANCG WDR35 SAMHD1 NKX2-5 LIG4 WDPCP TSHR COX1 NR2F2 SLC4A1 SELENON PRKACA CD19 FLCN SNX10 MIPEP CYB561 SNRNP200 REN FAH FHL1 ITGA2B CD40 KRT5 FANCB PRNP MAP2K1 PSTPIP1 NPPA KAT6B TMEM216 XIAP ECHS1 HLA-DQB1 SPTB NAGS DCHS1 TTC7A CAV3 APC FGFR2 KAT6B PNKP MRAS JPH2 STXBP2 SALL1 PTPRC VPS33A CD96 FECH PEX12 SNAI2 AP3B1 MED12 TBXAS1 GNPTAB
Protein Mutations 1
G20210A
SNP 0
HP:0001513: Obesity
Genes 469
MID2 LMNA PDE11A BBS10 HGSNAT ABCC8 GABRA3 RP1 ADRB2 AKT2 CXORF56 OFD1 APPL1 TRIP12 LAS1L CCDC141 CARTPT CHD7 MAK TACR3 FEZF1 IFT172 BEST1 XRCC4 FSCN2 GABRD PWRN1 ADCY3 CRX SETD5 BBS2 CRB1 FGF17 IGF1R HESX1 MTTP SLC25A4 CCDC141 SOX10 RP9 HCFC1 CTSH PDE4D LMNA USP9X CUL4B HDAC8 GNAS PDE4D SUFU TSPAN7 TBX1 PRPF4 TUB TUB RHO KISS1R MAPK8IP3 KMT2A PRMT7 SETD2 INS AIP VPS13B DNMT3A RAP1B SAG TRAPPC9 SIM1 MED12 SDCCAG8 CEP164 USH2A UFD1 PNKP PRPF6 LIPE PHIP IL1RAPL1 CNGA1 IFT74 FHL1 MERTK PHF6 PROK2 PDSS1 ARHGEF18 SH2B1 IDH3B FGFR3 PRPF3 SLC7A14 PAX4 JMJD1C DPYD MAN1B1 NR0B2 WT1 SNORD116-1 FMR1 IPW KCNJ18 NSD1 ATP6AP2 ACSL4 P2RY11 MC3R ALMS1 RAB23 PROK2 FGFR1 PCNT NTRK2 CTNNB1 STX16 DYRK1B HDAC8 SCAPER PRCD SEC24C PROKR2 SYNE1 SMC1A PCARE AKT2 TNFSF4 FGF8 DHDDS ALB ADRB3 SYNE2 MYT1L LEPR BBS12 ZNF513 NIN ADNP LEP ARMC5 IQSEC2 PPARG GUCA1B POMC BBIP1 THOC2 UPF3B PAK3 HACE1 SNORD115-1 BBS1 MOG SYP COMT GNAS-AS1 MKKS GNAS WNT4 SDCCAG8 ROM1 C8ORF37 PDE6B ZNF41 GHRL IFT172 GATA4 PDE6G ELN RAB23 AGTR2 TBX1 HS6ST1 RGR FGFR1 ACADVL EMD PTEN PROM1 PSMD12 SEMA4A ARL6 MEGF8 RAI1 ABCA4 MAGEL2 DMD ELN TULP1 DCC PAX6 UCP3 CUL4B REEP6 ZNF711 RREB1 SRY PDGFB DHX38 DEAF1 HDAC8 NPHP1 RP2 RLBP1 RNPC3 C8ORF37 GP1BB AGRP SETD2 RFC2 PHF6 MC4R FRMPD4 IGF1 USP8 EP300 HLA-DQB1 ARL3 IFT88 CEL ZNF81 OFD1 MKRN3-AS1 LAS1L BBS7 BBS2 RDH12 PRDM16 MKS1 HACE1 SMC3 IDH3A PIGT SHOX BBS9 IFT172 ARHGEF6 SKI CEP290 PRMT7 PDE4D CYP19A1 POMGNT1 KCNAB2 SIN3A H6PD KDM6A IFT27 LIMK1 TBL2 LZTFL1 BLK PNPLA6 USP8 ARL6 ARL2BP HLA-DRB1 IMPG2 XYLT1 BDNF ZBTB20 RBP3 POMC KIZ SH3KBP1 ARMC5 PRPF8 TOPORS BBS4 RERE AFF4 RPGR SLC9A7 SOX2 ALG13 HERC2 MRAP2 GNAS HUWE1 EIF2S3 TRAPPC9 POU3F4 FAM161A LEPR ARNT2 HIRA BBS9 GNAS DUSP6 MCM3AP RAI1 AFF4 MECP2 FOXP1 IQSEC2 BBS10 CEP19 SH2B1 SHANK3 RAD21 GDI1 BBS1 SMARCB1 SIM1 TRIM32 RAP1A WDR11 CLIP2 WT1 SPRY4 CACNA1S NIPBL NR2E3 MKKS KIF7 KIAA1549 GHR ANOS1 KLHL7 CNKSR2 CNGB1 HCRT GCK MC4R CEP290 EHMT1 AGBL5 TAF1 ZNF365 PROKR2 CA4 HNF1A BBS12 CLCN4 POMC MTFMT EYS NEK2 TMEM67 PCSK1 RPS6KA3 MAGEL2 CERKL GNAS EHMT1 ADNP MKS1 SDC3 FLII TTC8 MKRN3 BRAF NSMF TMEM43 MOG ENPP1 DLG3 CCDC28B BBS7 SLC10A7 SLC7A7 EXOC6B RBMX CDH23 IFT27 NDN SMAD4 IQSEC2 TRIM32 ZNF408 HESX1 TCF20 ATRX CANT1 GNAS EGF ALMS1 ARL6 GNAS FLRT3 BBS2 CDHR1 PRPF31 BBIP1 PRKAR1A IGFALS SEMA3A PAX6 PCNT ARVCF GTF2I FTSJ1 LRAT P4HTM PRKAR1A FTO ARL13B KCNJ11 PRPH2 APC2 IFT172 CLRN1 KMT2D LZTFL1 NRL PDE6A APOE TBX1 BBS4 INPP5E PCSK1 KIDINS220 PTCHD1 MLXIPL USP27X HDAC4 TBX3 MEGF8 TTC8 SNRPN TRAF3IP1 PWAR1 RPE65 ATRX PDX1 TBX3 TTC8 IL17RD POGZ ARX AHI1 MAN1B1 BLK CYP7A1 SPATA7 NPAP1 BBS5 EIF2S3 BAZ1B SNRNP200 AHR NEUROD1 WDPCP XYLT1 VPS13B BBS5 ZNF711 GNAS OTX2 ERMARD KIDINS220 SOX3 HNF4A IMPDH1 IFT140 KLF11 RAB39B BPTF HSD11B1 SPG11 RPS6KA3 NF2 MECP2 LEP WDR34 UBE3A CNNM2 C8ORF37 GTF2IRD1 CREBBP SH2B1
Protein Mutations 3
G20210A P12A W64R
HP:0000822: Hypertension
Genes 418
PDE11A WT1 BBS10 TGFB2 COL1A1 KCTD1 MLX ND5 SCNN1A GPR101 TRNS2 B2M CFI NOTCH3 ALX4 TNFRSF11A GATA5 EXT2 LYZ MUC1 ERCC6 TRNL1 STOX1 COX3 PRKACA MTTP BSCL2 TRNS1 PKD2 KRT8 TRNL1 SLC2A10 CDH23 LEMD3 WT1 TBX1 TRIM28 KCTD1 ND1 CYTB WNK1 ELP1 WDR19 AIP COX2 LOX TGFBR2 GCH1 KRT18 SCNN1B CORIN UFD1 CFH SCNN1G HGD PDE11A COL4A4 BRCA2 NR3C1 CACNA1D LMNA FBN1 ND1 TRNQ VHL JMJD1C CBS RPGRIP1L TGFBR3 POR SDHD TRNS1 ALMS1 CACNA1H TSC1 LRP6 CD2AP FBN1 COX2 DYRK1B SEC24C ADA2 HPSE2 NF1 LDLRAP1 HLA-DRB1 WNK4 ACVRL1 CCND1 FBN1 VHL GLA PDE3A ABCG8 SH2B3 MMP2 SLC52A2 ARMC5 SLC25A11 ERCC4 BBIP1 PAM16 HLA-DPA1 PDE8B ACAT1 LMNA GLA GUCY1A1 MAFB DIS3L2 COL5A2 NKX2-5 CYP11B1 TRNL1 BBS1 FGFR2 LEMD3 MYH7 PPARG FLT1 FN1 COMT MYMK MTRR FOXF1 FN1 CFB MKKS SDHD CYP11B1 MGP SDCCAG8 GJA1 SH2B3 CYP17A1 SUGCT TGFB3 COX1 ANGPTL6 ELN ACTN4 REST HMBS HSD11B2 ND5 SDHD SMAD4 ND4 KCNJ5 LRIG2 NPHP1 TRNQ FMO3 HMBS PTPN22 FGFR2 GBA ELN KIF1B SDHB SLC2A10 COX1 ENG RREB1 CCR6 CYP11B1 PLIN1 CCN2 LMX1B ACTA2 CD46 VHL CACNA1D G6PC PPARG MMP14 NPHP1 WRN APOA1 GP1BB KCNJ5 GPC3 ARHGAP31 RFC2 SMAD3 ND6 MAX SCNN1B ND6 CTLA4 PRTN3 SCNN1G RET PLIN1 USP8 C3 XYLT1 HLA-B XYLT2 FGA TRNC TRNF EPAS1 APOB BBS7 BBS2 BNC2 FOXE3 SDHC IQCB1 NOS3 BBS9 ABCC6 KIF1B COL4A5 H19 EDA2R CYP17A1 ELN PKHD1 HBB ENPP1 LIMK1 TBL2 LZTFL1 CPOX CEP164 USP8 CALR KIF1B SLC37A4 ZMPSTE24 TRNF SERPINA6 TMEM67 VHL JAK2 MDH2 ARMC5 SMARCAL1 FUZ ABCC6 TRNW POU3F4 SDHB NSMCE2 OFD1 MEF2A WT1 KLHL3 XPNPEP3 HIRA GNAS TP53 PDE3A CEP19 BANF1 SPRY2 INVS ADA2 BBS1 FBN1 NOD2 SDHC CLIP2 ERCC8 HSD11B2 NPHP3 TMEM127 HLA-DPB1 TNFRSF11B SDCCAG8 DLST MC4R CEP290 EGFR STAT1 TMEM127 COL3A1 YY1AP1 CAV1 COQ7 INVS ADA2 NOTCH1 TRNK BBS12 NFIX TRIP13 TRPC6 IDUA OFD1 LMX1B WDR35 ENPP1 BMPR2 CEP290 MFAP5 LMNA TRNK MKS1 POU6F2 PKD1 CC2D2A MAT2A MYH11 LDLR RET COL3A1 VHL CCDC28B SCN2B SDHB NOTCH2 ECE1 CDH23 IFT27 TRNV SMAD4 TRIM32 SDHAF2 GNAS MYLK ALMS1 ARL6 TSC2 AIP PRKAR1A WT1 ITGA8 TRIM28 ARVCF GTF2I LARS2 TRNW THPO COX3 CYP11B2 TMEM237 SLC37A4 CYP11B1 IFT172 COL5A1 SMAD6 TRAF3IP1 TMEM70 TRNH FH DNAJB11 NFU1 CFHR1 TBX1 BBS4 KCNJ5 COL4A3 AIP TRNS2 NR3C1 MLXIPL NPHP1 LMNA GUCY1A1 EDA SLC25A11 ACTA2 SCNN1A CFHR3 FMR1 LMNA TTC8 PRKG1 PRKACA TGFBR1 FIG4 ELP1 BAZ1B IL12B MAX IRF5 NPHP4 PHF21A ABCC6 RET WDPCP YY1AP1 CUL3 COL4A3 ADAMTSL4 BBS5 SLC52A3 OSGEP GANAB GNAS CYP21A2 TRNE SDHB ABCB6 VAC14 JAK2 RET SDHA PRKAR1A SDHD PCSK9 GDNF WT1 TET2 NR3C2 SMAD4 CLCN2 ABCG5 MPL C8ORF37 GTF2IRD1 VANGL1 TRNK THBD PRKAR1A
HP:0000365: Hearing impairment
Genes 2062
FUS WHCR TCAP DNAI1 KITLG NAA10 AP1S2 STRC MYH9 DMXL2 ST3GAL5 SLC26A4 IGBP1 NALCN WNT10B TRNS2 XYLT2 RRM2B OTUD6B TRPS1 ERCC2 GRXCR2 TACR3 TNFRSF11A IFT172 EDN1 PRRT2 HNF1B CAP2 ZNF469 SETD5 PSMD12 TUBB3 ZIC1 FGF17 DNAH11 HESX1 KCNJ11 CCDC141 SOX10 SETBP1 PTPRQ PEX10 CTNNB1 USP9X MAFB KIF7 POU3F4 TRIOBP COCH POLG DNASE1L3 TSPAN7 PIEZO1 PRPF4 TUB PRMT7 MYO7A NDUFS1 GSC RAP1B PTPN11 SOS1 POMK TRNS1 MECOM CCDC39 DIABLO SDCCAG8 PRPF6 SHOC2 CNGA1 LMNB2 NDUFS3 ACTG1 PROK2 ND3 XRCC2 SOST ARHGEF18 SLC29A3 ACOX1 FGFR3 ELAC2 STAMBP PRPF3 NOG POLR3H COX6B1 TCOF1 KCNE1 SGPL1 ANTXR1 FGFR3 EBP SOX10 RPL10 CEACAM16 COLEC11 TIMM8A FGFR3 CEACAM16 FGF10 TRNS1 SOX4 PTPN11 ARMC4 RAB23 FKTN NRAS DHDDS SDHC PHEX SLC26A5 GJA1 IGF1 ERCC2 FBN1 ANKRD11 SQSTM1 PIGS CDK5RAP2 USP9X RIPOR2 CIB2 POU4F3 FAM20C GCK UPF3B PAK3 HLA-DPA1 CHCHD10 PAX2 DLX5 FLNA SDHB GBA2 LHX3 TWIST2 PDK3 IDUA PRPS1 ECHS1 BBS1 FOXI1 OSBPL2 MAN2B1 ERCC3 ACSL4 ESRP1 CFAP300 PNPLA2 SGMS2 CDC6 CYP7B1 SEMA3D STK36 C8ORF37 ASPA GP1BB SLC52A2 EYA1 PROKR2 LCA5 KCNE5 SOX2 BRCA1 RERE POR RFWD3 DUSP6 NDUFS2 TBC1D24 RPS28 ASXL1 COL7A1 ATP8B1 AGTR2 DKC1 BPNT2 IFT140 ITGB3 FGFR1 ND5 PEX3 PRPS1 SDHA EIF3F GPC3 AGRN PRPH2 ARL6 ABCA4 ADAT3 DMD DNAAF5 CEP57 TULP1 SUCLA2 PEX12 SRY MARVELD2 LOXL3 HOXA11 ALOX12B CDCA7 ERCC4 DEAF1 BCOR AP1B1 EDNRA HDAC8 GMPPB PEPD TRAPPC12 TGFB1 PEX26 NDUFS7 NPHP1 BMP15 CLRN1 PIGA SCN5A EPS8L2 NOG COL11A1 MAPK1 SLC19A2 SNRPB NSUN2 PROK2 KRAS PLXND1 TXNRD2 PPP1R15B FAT4 MCIDAS PEX1 FIBP ALOXE3 SLC39A8 GJB2 IGF1 TANGO2 TRNL1 ANKRD11 ZFP57 SOST ARL3 AKT1 S1PR2 MYH9 LONP1 NDUFA10 IRF6 TRNC BCS1L DNAJB13 TERT DCAF17 SALL4 MECOM SMCHD1 COL2A1 NDUFS1 CDH23 PAX3 ITGA2 USP7 SOST ND2 LETM1 EYA4 SMC3 GJB3 VAMP1 TBX1 SP7 PLCB4 TUBB4A COL4A5 PDE4D NDUFAF3 DNMT1 BNC1 RBM10 SRCAP ROR1 GAA PSAP PCDH15 LHX1 EYA1 TBX4 UBE2T TACO1 SPAG1 ARL2BP NDUFA9 FGFR3 ZBTB20 RPS23 MFN2 PIGO RPGRIP1 EPG5 IQCB1 SLC9A7 RPS26 ASCL1 KIT COX20 FANCE ALG13 COL2A1 FLNB LMX1A ARSA POU3F4 FAM161A CDH23 CHD7 RRM2B EDNRB ACY1 FGFR3 USH2A GNAS RD3 MITF GUCY2D FOXRED1 PIK3C2A SOX9 DNAAF4 NARS2 COL2A1 RRAS TRNF SDHC TBC1D24 NDUFV1 HTRA2 SLC19A2 SEC23B SPRY4 BAG3 RPL10 KIF7 DLX4 NRXN1 PSMC3IP KYNU FGFR1 KIAA1549 TBC1D24 PPP1R15B NOTCH2 GRIP1 LORICRIN DACT1 MYO7A C1QBP ARID2 BRAF MBTPS2 SOX10 GTF2E2 NMNAT1 PARN CASK GNAI3 TRAPPC11 TXNL4A SLC25A24 DHCR7 GALC COL27A1 KDSR BBS12 RLBP1 ST3GAL5 RNASEH1 DNAH1 SLC52A2 NEK2 FLNA CERKL NDUFS8 COG1 ND1 FANCA NDUFA13 DMP1 RRM2B SIX5 CDC45 CD151 KCNQ4 MYH7 LHX3 NSD2 BRAF GTF2H5 SON FANCM KCNE1 VHL TRNP IL17RD PEX10 BMP4 PSEN1 SLC10A7 ZMYND10 GJB2 ABCD1 HESX1 TBL1XR1 PEX14 TRIP13 UBR1 PEX13 MPLKIP DIAPH3 HARS1 AKT1 HAAO ARL6 FLRT3 NXN PPP2R3C PRPF31 KCNJ10 PDHA1 ND5 NDUFB11 GJB2 LRP2 PCNT OTUD6B GJA1 GTF2I PEX1 PLOD3 SOST PRPH2 GUSB CLRN1 SLX4 OPA1 KMT2D NEXN SYNE4 KCNN3 TCOF1 ALG12 SCO1 FGFR3 SLC26A2 CASK PCYT1A VPS11 OPA1 PNPT1 KCNJ10 PTCHD1 USP27X DNAAF6 GJB1 FANCI TRMT10A ABCC9 RPE65 MIR96 CLDN14 TANGO2 TTC8 IL17RD AHSG WBP2 FIG4 SPATA7 PEX6 ADGRV1 RPL10 COL9A3 AHR COL11A1 UGT1A1 GRHL2 PEX16 SNAP29 ATP6 BDP1 COL1A2 ORC1 ZNF711 TRNE LRRC6 OTX2 SLC25A4 NLRP3 TELO2 MED12 CASK SYT2 DCAF17 BPTF TSPEAR OAT CHN1 TRPV4 TAF1A SEMA3E SPRY4 RERE GJB2 STRC CCDC103 ERCC6 ARSG COL2A1 TP63 SPATA7 BBS10 HGSNAT NOTCH3 SIX1 ELMOD3 ND5 CTSA TWNK PTPRQ BCR TMPO TRAF7 RRM2B NOTCH3 ALX3 SDHD BEST1 MAP3K7 COL9A1 FSCN2 GABRD LRP5 CTBP1 CRX ERCC6 COX3 CRB1 NKX2-1 IFRD1 PEX12 FMR1 TRNS1 DPF2 HOXA2 EDN3 HCFC1 TBK1 PAX1 MSTO1 FLNA RAF1 MRPS22 DNAH9 RAC1 HSD17B10 GLI3 PEX19 ANKH SARDH CYTB DNAI1 TAC3 SMARCA4 TWIST1 MFN2 RSPH3 GFER GAB1 RECQL4 SH3TC2 EDN3 ABHD12 G6PC3 FAM149B1 TP63 FLNA TYMP SAG CEP78 MED12 TK2 NHP2 RIT1 COL11A2 ARID2 IL1RAPL1 MYH3 SNRPB MERTK PPCS PHF6 RET FLNA SOX10 COL4A4 SQSTM1 LMNA TRNQ NDP TP63 LONP1 SIN3A LOXHD1 FGFR2 TWIST2 SLITRK6 COX8A PQBP1 TBL1Y STAC3 KDM6A FANCE SDHD DUX4 P2RX2 LRP5 EPS8 TSHZ1 ITGB6 FZD2 ALMS1 GALE SLC4A11 TWIST1 LAMB1 NDUFS2 TMEM67 MAP3K7 DMP1 TMEM38B NAGA SMC1A GMPPA ARID1A SMCHD1 MOGS DHDDS STRC RET COX7B PEX7 SUCLA2 FANCD2 NF2 KCNC3 FKBP14 SOX2 ACTB VHL GLA CDC42 FGFR2 ERCC2 SLC25A11 FGF3 IQSEC2 GUCA1B PRKDC GLB1 PDE1C ATP6V1B2 DLG1 ND1 NAXD FXN KCNJ10 BCS1L ERCC5 FRAS1 TPRN ND6 SKI FIBP COMT GJA1 GPSM2 ACTB MTFMT NAA10 MKKS ANKH AK2 ROM1 KISS1 SOX10 FGFR2 SPNS2 CDC42 POLG THRB CARS2 TRNS1 ATP6V1B2 COX1 CFAP298 GATA2 SURF1 ZIC1 TP63 TECTA FUCA1 HS6ST1 DNAAF1 ND4 TMEM126A GAS2L2 MYH14 XPA DMXL2 TRNQ PCNA PTPN22 RAI1 MGP ELN TGFB1 SLC25A1 MFN2 SLX4 RPS6KA3 USF3 COX1 COX15 XPC PRKAR1A BUB3 OPA1 NDUFA11 FANCA DHX38 PET100 MASP1 TRNF MAD2L2 FOXI1 USH1C ERCC2 GJB4 PDZD7 ATP1A2 SMARCC2 TRNV RLBP1 SLC18A3 GDF6 COX14 CSRP3 CEP57 BMP4 PMPCB PEX12 TERC CLCNKB TRNN NDUFV1 BCS1L PTPN11 SMARCB1 GJB2 SEM1 CTLA4 ALDH18A1 DNMT1 SIX5 HNF1B IFT88 SF3B4 DCDC2 EYA1 NEDD4L ARSG KCNQ1 EPAS1 NUS1 OPA1 NLRP3 COQ6 PHYH TRNS2 OTOA BBS7 OTOGL KDM6A NDUFAF4 BBS2 CDKL5 RDH12 SLC39A8 IDUA CCNO MYO7A IDH3A SPRY4 EFNB1 PIGT LMNA BBS9 SQSTM1 GJB6 ARHGEF6 CNOT1 PEX26 TAZ FGFR3 POLR1D TK2 SIN3A PITX2 WFS1 CISD2 COA8 USH1G LIMK1 FLRT3 TBL2 SIX1 PAX2 BCAP31 LSS ND5 PNPLA6 TRNT1 TWNK TRNF PEX1 MSX1 LRP4 KIZ CDC45 ENPP1 TWIST1 MDH2 PRPF8 COL11A1 CYP7B1 USH2A RDH12 XPA ALG11 AFF4 TNNC1 RASA2 SOX2 VCL PEX1 TRNW ADAMTSL1 NDUFAF2 GIPC3 OFD1 CLCN7 XPNPEP3 ARNT2 HIRA ARSA PEX7 REV3L CEP250 CCBE1 SMCHD1 SNX14 MYH3 FGF8 NME8 RAD21 GDI1 NDUFAF3 DGUOK DPF2 HARS1 KMT2D POLG AIFM1 EDN3 CHD4 ERCC3 FANCF AHDC1 TP63 SIX1 HLA-DPB1 DLST PGM3 MYH9 PTRH2 SLC35A2 AMER1 EYA1 DUSP6 FGFR3 PMP22 COL11A1 NDUFAF5 COQ7 GJB6 POLR1C KCNJ11 ERCC2 ACVR1 TP63 ERCC4 PBX1 NR5A1 TMEM132E PEX2 GJB6 LMX1B PIK3CA FAT4 PTDSS1 COQ2 MPZ BTK TRNK RAI1 TRNL1 KIAA0753 SPEF2 TIMMDC1 NDUFA9 NSMF NDUFS4 SLC26A2 SOS2 RRAS2 CHST14 RHO PRDM5 SDHB FGFR1 KCNQ1 PEX6 SLC44A4 TK2 GJB2 TRNP PAX1 PIK3R1 IQSEC2 GPRASP2 ATRX GJB6 IRX5 ALMS1 MEOX1 FGFR3 SOX10 HBB PUS3 MORC2 SALL4 LETM1 PNP NDUFS4 HOXA1 SNAP29 RAD51C COL4A6 WHRN NOTCH3 DNAAF3 EFTUD2 SNAI2 HNF4A BCOR IFT172 MYD88 PDE6D NDUFA13 DAB1 NPM1 CDH11 NRL NDUFA2 EPS15L1 BBS4 NAGLU CFAP221 PRPS1 MLXIPL COL13A1 USP45 GJB2 TRNK AP1S1 RECQL4 COL11A2 ADK CABP2 CD164 POGZ ARX ALX1 EBP BAZ1B PRPS1 FRG1 MAX PRDM16 PEX1 CHRNG SLC29A3 NDUFV2 HGF GATA3 NDUFS8 CPLX1 IARS1 WDPCP PMP22 KRAS USH1G SPTLC1 NOP10 SDHB RET SDHA ALG11 MBTPS2 SYT2 EDNRB IFT140 TWIST2 POGZ RAB39B MAP3K7 MSX1 HOXA11 MYH6 NIPBL SBF2 CISD2 SMAD4 MECP2 WDR11 NDUFA1 PCDH15 MPZL2 CDT1 FGF9 GTF2IRD1 HOMER2 CREBBP MYO7A MPZ PEX19 GP1BA PEX1 SPATA5 PHYH CCDC65 NDUFS7 MID2 AARS1 GJB2 EPG5 PYCR2 RP1 PORCN ERCC4 PYCR2 CXORF56 SOX11 COL2A1 PEX1 KYNU PDZD7 GATA1 TCTN3 KCNJ10 GAS8 TWNK MITF IARS2 SIX6 CHD7 BRAF PEX11B NEU1 PAX3 RAB3GAP2 TSR2 TRNL1 SERPINB6 EXT1 TP63 CCDC50 TINF2 DSE GBA ZBTB20 TOP3A NEFL CHD7 TACO1 ACTN2 DPH1 GLIS3 RUNX2 ACVR1 LRP5 COL11A1 CHST14 DNAH5 CTSA TRNK TBX1 FLNB NR2F1 PEX11B ND1 DNAH1 RHO NFIX SETD2 PEX2 COL1A2 HS6ST1 RDX MTHFD1 COX2 FASTKD2 HSPD1 EYA1 GCH1 FGFR3 COL9A1 POLR1C PAX3 GJB2 USH2A RPE65 KARS1 FGF3 GLYCTK ND1 SLC7A14 EDNRB VHL CATSPER2 PLA2G6 GJB1 FLNA UBE2A NDUFB8 MAF ESPN COX7B NSD1 DLX6 LDB3 TRNK TBL1XR1 CCBE1 ACSL4 PSEN2 DNMT1 TTR POLD1 DDX3X MITF SMC3 NEK1 FGFR1 COL2A1 PEX7 PDGFRB TRNS2 FBN1 ERCC3 POLG2 SCAPER SEC24C RAF1 ACTC1 ADCY1 B3GLCT ADAMTS3 ERCC6 NDRG1 TRRAP KCNH1 BMP2 FANCC ZNF469 TNFSF11 SDHA SDHB BBIP1 TACR3 TNFRSF11A CLIC5 VPS11 RFC1 NDUFA12 TBCK SNX10 GATAD1 FHL2 NDUFV2 MTRR ERCC4 LHFPL5 LRP2 KIF7 BCS1L DRC1 SDHD PDZD7 SDCCAG8 PDZD7 PTPN11 PEX5 CDH23 MAP2K1 GJB3 PIEZO2 PDE6G FIG4 TNC LAMA4 DVL3 ELN TFAP2A PTEN FOXI1 FGFR3 NDUFAF6 GSDME PROM1 PSMD12 SEMA4A PEX10 SMCHD1 SNAP25 MEGF8 TRNS1 HGSNAT SALL4 FGF17 TELO2 TTC25 MFN2 PEX26 DCC COL9A2 REEP6 MARS2 RREB1 TWNK SLC19A3 GPC4 FANCC ROBO3 PGM3 SMPX CARS2 SLC33A1 KLLN DDX3X NSDHL RAI1 PRDM5 AMMECR1 COL2A1 SERAC1 GFER ABHD5 SOX9 GP1BB NOP56 FARS2 NDUFAF1 PCDH15 NRTN COG5 FRMPD4 MYO3A TWNK ND6 GJC2 FOXE3 UBR1 PRTN3 DVL1 RECQL4 SALL4 GNRHR PIGL GNRH1 FGFR2 STUB1 AIPL1 CHAT CD109 ZNF81 TRNI FRAS1 SRP72 OFD1 TRNF MYO6 COL1A1 NDUFA6 DNAJC19 DHODH TECTA MITF CHD7 RSPH4A PRDM16 L2HGDH STAT3 PEX6 CRYAB LRAT CNTNAP2 COL10A1 SKI OSTM1 DHODH LRP5 KDM6A FRG1 KCNJ10 ATRX SCO2 KIF5A PEX2 FGFR2 MYSM1 DNAI2 ND4 SLC29A3 KIF1B ZMPSTE24 COL11A2 VHL EPRS1 CHRNG KITLG SC5D GRXCR1 PEX16 RERE UBB NDUFS4 SPIDR SUCLG1 RPGR SLC17A8 INTU GSN FANCL PDX1 PEX14 ATRX FUCA1 WFS1 MYCN ELMO2 PGAP2 NSD2 NDUFS6 TTN WHRN CHSY1 RAP1A GJB2 RNF13 WDR11 CLIP2 ERCC8 GBA2 COLEC10 DARS2 ANOS1 OPA3 MEOX1 GNAS ATP2B2 FANCI GNS NDUFB11 CEP290 PNPT1 MSRB3 TIMMDC1 TMEM127 SNAI2 PROKR2 MAP3K7 SGSH MED13L POLG GTF2E2 RFT1 NLRP3 TCF12 NFIX NOTCH2 USB1 COL2A1 IDUA ST3GAL5 KISS1R AP1S2 PEX7 ADGRV1 CLCN7 NAGA NEU1 TYR TRNQ FLNA MCM2 NTNG1 PJVK BCOR USH1C ROR2 RUNX2 BCOR TARS1 ATN1 RET OFD1 PIGV CPLANE1 PEX6 AMMECR1 ANOS1 TRIM32 SDHAF2 LRP12 POLG SLC26A4 TNNI3 MYBPC3 ATP6V0A4 SDHA TPM1 USP9X FANCD2 ACY1 NOG TCIRG1 GMPPA CPLANE1 BRCA2 SEMA3A DCC TRNE TPRKB SDHC FDXR PRKAR1A TRNW PPP1CB PEX6 RPL11 LRAT SCN1A BCS1L FTO ARID1B APC2 MYPN RSPH9 TRNH MET TPM2 ERCC1 PRPS1 COLEC10 PEX3 PDE6A CLCNKA ZIC1 DDX11 NLRC4 COCH NUP107 TBX1 GDF6 ATP6 TFAP2A CATSPER2 HCCS DSPP FLNB GZF1 SGCD TTC8 PEX13 NUBPL TCTN3 REST SEMA3C NLRP3 ITM2B TIMM8A AHI1 PCDH15 LRP4 ERF ATP6V1B1 SOST COL4A3 VPS13B BBS5 CDC14A PEX13 CTC1 CERT1 LIPT1 VAC14 GAS8 SUFU PEX16 COL1A1 MANBA SOX3 USH1C TRPV3 RPS6KA3 CRKL GABBR2 SURF1 FREM2 VCP USH1C BTD POLG ARSA ESRRB FOXC1 C8ORF37 COL11A1 ARID1B TARDBP PEX5 DKK1 CHSY1 IGBP1 PEX13 DNAAF2 AMMECR1 ARHGAP29 PEX6 CCDC141 ACOX1 GPC4 AIFM1 MAK FEZF1 SOX10 XRCC4 SKI IDUA LRRC56 ERCC6 ATP1A3 BUB1 BBS2 TMC1 PLAA SDHD DVL1 RP9 CNTNAP1 ORC1 COG7 THOC6 UFM1 TRNL1 SLC26A4 HYDIN WFS1 NELFA SURF1 MYH3 GPC4 TINF2 BEAN1 EXOSC8 PDK3 TWIST1 AMER1 COX10 GRHL3 HDAC8 MYH14 PEX2 TTC19 LRP5 KISS1R KMT2A ATP6V1B2 CSPP1 SLC5A7 ACO2 ERCC5 DCHS1 NDE1 RFT1 LZTR1 DVL3 CERS3 TNFRSF11A SLC52A3 PTEN UFD1 RNF135 RNASET2 MARS2 B3GLCT FGFRL1 TGM1 ITGA2B YAP1 MYO6 CREB3L1 DGUOK IDH3B TNNT2 PPIP5K2 FGFR3 NDUFB11 JMJD1C RAF1 PALB2 FAT4 MBTPS2 ND3 C9ORF72 STAG2 WNT5A YME1L1 PTPN22 PRPS1 DES RMND1 NSD1 RPGR TP63 NDUFS2 RTTN TMIE FAS ARSB RAD51 CAT CTNNB1 MITF COX2 PIGL COL11A2 PEX19 PRCD SIX1 PORCN SEMA3E PROKR2 CACNA1D PCARE HYMAI TRNH ILDR1 BCAP31 FGF8 COL1A2 IRF6 SLC25A4 SMARCB1 ZNF513 ASPA CCND1 GJA1 HOXB1 TULP1 SLC52A2 CCDC151 MRAS SPECC1L ERCC4 PUS7 GDNF TCIRG1 HACE1 EYA1 SPATA5 NRAS NDUFAF4 TRNL1 BTD FGFR2 BTK LEMD3 GMNN SYP ND2 RPS6KA3 RAC1 CLRN1 IMPDH1 PRPS1 CDH1 RNR1 MYO7A NEBL NLRP12 MGP MED12 EDN1 PDE6B TRMU RNF113A GUCY2D FAT4 ZNF41 ALX3 LRP4 TWIST1 PAX3 RPGR NOG DNAL1 FGFR3 NDP BRAF ATRX BTK KCNJ13 ABCC8 SUMF1 PITX2 RGR MRPS2 PEX14 COL2A1 ACTG1 PEX11B SALL4 CDH1 COL11A2 NOG LMNB1 ERCC5 WAC DNAAF3 PSAP COX10 DNAJC21 ABCC8 STAC3 SMARCE1 PLN LMX1B MORC2 NDUFAF2 SIX1 PAX3 ATP6V1B2 NDUFB9 DOLK FOXRED1 NECTIN1 BEAN1 RP2 CACNA1A WRAP53 SLC4A11 TMPRSS3 ATP6AP1 MANBA STXBP1 TMEM216 SLC25A24 RFC2 ERCC3 PUF60 FGFR1 GDF5 IDS ND6 MASP1 DNAJC3 FOXC1 LARS2 NOG CCDC40 PET100 WFS1 EP300 NLRC4 PEX3 COX15 DSG2 OTOF ARSL TRNL1 TRNW TBX22 PHOX2B MICOS13 PNPLA2 NAGA SC5D PIK3R1 SOST HACE1 TNFRSF11B AIFM1 SUMF1 PNPLA1 CLPP NECTIN1 PLAGL1 POMGNT1 KCNAB2 CHD7 POLG PEX16 SF3B4 ARID1B ABCA12 FGFR2 FSHR NLRP3 LZTFL1 WFS1 COLEC11 INS SHANK3 PERP IMPG2 GJA1 GATA3 RBP3 PROKR2 ADPRS ATP8 TAF1 TOPORS DNM1L GJB3 DNAJC3 OFD1 NDUFS3 COL9A2 MAP3K20 GJB2 EXOSC2 TKT GDF6 TWNK ACTB APC EYA4 CTNND1 ESPN DUSP6 RAI1 AFF4 GJC2 LIG4 SURF1 GDF3 KCNH1 SHANK3 BBS1 PAX3 ATP1A3 PSAP EFTUD2 POLR1D TRMU BRIP1 NIPBL NR2E3 ANKRD1 PCGF2 PEX10 TMEM126B EYA4 KLHL7 ARHGDIA BRAF DHCR7 BUB1B RSPH1 CNKSR2 CNGB1 TNFRSF11B ERCC2 TMC1 EHMT1 AGBL5 TAF1 CCDC114 GBA2 CEP78 RDH5 CRB1 EDNRB PTPN22 CA4 TRNK DLX5 VPS37A GALNS OFD1 CLCN4 ABHD5 EYS LARS1 CFAP300 EHMT1 MSTO1 OTOG NARS2 COQ8A MYO9A ORC6 MKS1 PRRX1 FLII NOP56 NSMF MGAT2 RTEL1 POLG DLG3 MYO15A CCDC28B FOXJ1 DDB2 CEP290 SLC39A14 IFT27 PLP1 TRNV PIK3CA GJB2 NF2 RBM8A NDUFB10 NDUFAF5 SMAD4 ZNF408 MCTP2 SNX14 PEX11B RBM20 COA8 GMNN CDHR1 BSND NIPAL4 HSD17B4 HARS2 CHST3 ORC4 DMXL2 GJB6 ARVCF FTSJ1 COX3 AAAS TFAP2B ASPM BTRC GDF5 PCLO MPDZ TYMP TCF12 TBX15 IARS2 NDUFA4 FH CIB2 COL11A2 GRAP CBL WHRN ABCB6 PEX26 COL4A3 LRTOMT TRNS2 HDAC4 FANCG PDE4D PNPLA8 KLHL7 EDC3 FGFR2 EDNRB DIAPH1 FLCN RRM2B COL1A1 SNRNP200 BMP4 CRX PEX5 FANCB FKBP14 KAT6B ECHS1 SLC52A3 TRNS1 DCHS1 DMD FGF3 ECE1 HCCS SMARCA4 PTH1R APC SDHD FGFR2 SALL1 KAT6B IMPDH1 MRAS NDUFB3 SALL1 PNPT1 HUWE1 MECP2 MITF FGFR3 CHCHD10 TRNL1 TBX22 KCNC3 MYH3 PEX12 SNAI2 CRYM GLI3 MED12 TRNK A2ML1
HP:0002664: Neoplasm
Genes 1489
WHCR ATP7A PHOX2B KRT17 IL2RG HMGA2 PORCN KRAS TET2 IDH2 FLT3 ERCC4 AR BRCA1 BRCA2 GATA1 TCF4 TCTN3 GPR101 SMAD7 KRT6B PIK3CA KCNJ10 MAP2K2 REST TTC37 MC2R TRPS1 SIX6 ALX4 PIK3CA BRAF TP53 STK11 TSR2 EXT2 EDN1 RNF43 TRNL1 ATM SDHC EXT1 BCL10 BAP1 NF1 OCRL TP53 CHD7 TINF2 ERCC6 NF1 MAFA PMS2 ASXL1 PHOX2B CTNNB1 CR2 RET TCTN3 C11ORF95 PTPN3 PIEZO2 ABCB11 SETBP1 PDCD10 LRP5 LMOD1 MALT1 ASXL1 LZTR1 TINF2 RAD51C RECQL4 MAP2K1 FOXO1 PTCH2 RPS20 FLI1 BMPR1A SMARCAD1 BMPR1A MAP3K8 DNASE1L3 SUFU TP53 FOXP1 PTCH1 PDGFRB ND1 PIK3CA ZSWIM6 SETD2 INS NRAS HBB MEN1 AIP CLCNKB RPS10 HFE COX2 TSC2 DHH CTRC MEN1 EYA1 BRCA1 GINS1 MSH3 GLI2 TRNS1 HABP2 SSX1 SUFU PRKN CD81 TNFSF12 MYH11 KIT VEGFC WWOX H19 SDHD FGF3 TNFRSF1B RMRP XRCC2 HRAS MTM1 EPHB2 PLCD1 NBN CDKN1B TUBB RECQL4 EDNRB VHL ACAN MSH6 CDKN2B DCC TJP2 HRAS CDKN2A VHL REST NKX2-1 ANTXR1 RPL35 DNM2 FGFR3 SNAI2 NLRP1 ACTG2 GNB1 EWSR1 CBFB NSD1 FLCN ERBB2 MLH1 H19 EIF2AK4 RPL10 TMEM107 TRNK RAD54L RAD51C INPP5E NFKB1 CDKN1A KDM6B F13B SLC26A2 TRNS1 RPL26 CYLD H19 PTEN PTPN11 DCLRE1C MPL FLCN NEK1 MITF MSH3 NUTM1 IL7 STAT3 TRNS2 TG ERCC3 MNX1 NRAS MLH3 TSC1 GLI3 CDK4 SDHC NF1 BRCA2 CIB1 ATRX BRCA2 ADAMTS3 ZFPM2 COL2A1 TET2 ZIC2 SLCO2A1 BLM GJA1 MAP3K1 PIK3CA SDHA RTEL1 CDK4 KCNH1 SH2B3 APC ESCO2 FANCC TERT USP9X APC RAD54B NF2 SDHB RPS14 PPP2R1B RPS19 RPL35A MSH2 WRAP53 RASA1 LMNA ACVRL1 POLH SDHB DIS3L2 PIGA GNPTAB CXCR4 MSH2 SLC25A13 BMP2 NNT PSENEN FOXI1 APC IL1RN MITF ACD PTEN MPL RUNX1 ERCC3 ERCC4 DLEC1 CHEK2 BRCA2 JAK2 SBDS BRCA1 SDHD SEMA3D MSH6 HFE TREM2 APC CCDC22 MINPP1 DISP1 FAM20C MAP2K1 ALK BRCA1 STIM1 SLC25A13 RFWD3 HRAS GLI1 TET2 DVL3 COL7A1 HMBS TFAP2A ICOS CALR PTEN UROD DKC1 FDPS LIG4 TXNRD2 SRSF2 ND5 SDHD CHEK2 NRAS BCL6 GPC3 XPC MEN1 ERCC2 AXIN2 MYC RAD51 GBA KIF1B SDHB EXT2 EXT2 NTHL1 SRY RPGRIP1L MPL MTOR CASP8 RB1CC1 IGF2 FANCC ERCC4 WRN PGM3 VHL ING1 PLAG1 WT1 MYLK KLLN PIK3CA G6PC RPS7 MCM4 ANTXR1 POLH BRCA2 DLL1 OGG1 WRN F13A1 SBDS EFL1 TAF15 GLI3 GPC3 KRAS CDKN2B MAPK1 DIS3L2 GPR101 NRTN DKC1 KLLN NSUN2 MAP3K1 ERBB2 PHKG2 SRGAP1 CYLD NBN ALK MAX WT1 ACTB PALB2 TBX18 FIBP CASP10 DVL1 TYR MSH2 RECQL4 PIGL EDN3 WT1 ATP7B RPL27 RET USP8 FGFR2 PDGFRL H19 CCND1 ATM AXIN2 COL7A1 AKT1 TERT MUTYH HOXD13 DICER1 THPO GDF5 CEL SDHB EXT2 SRP72 TERT TRNF TP53 LIN28B APC NPM1 FGFR3 PTEN SMPD1 SLC22A18 SDHC PRDM16 KIT STK11 RPL11 LETM1 CALR SDHC RB1 PIK3CA PLCB4 COL4A5 CASP8 SKI H19 COL1A1 CC2D2A CASP10 GCGR GLI3 PIK3CA RPS29 RSPO1 PTEN MYSM1 BAP1 SRY UBE2T BRCA1 USP8 COL7A1 RNASEH2B KIF1B MN1 RELA SMAD4 VHL SH3KBP1 BCR CD79B SRP54 SRP54 SSX2 CHRNG RPL18 NF1 WWOX RERE LZTS1 WT1 MSH3 TYROBP ASCL1 IKBKG ABCC6 FAH KIT GDNF FANCE TERT BIN1 FANCL KIF11 SDHB WDPCP SLC6A17 TP53 HNF1A KEAP1 POLE HSPA9 SMO PTCH2 PTCH1 PMS1 ELMO2 BCL2 NSD2 EXT1 SRD5A3 STAT6 MVD TERC SF3B1 MNX1 FGFR1 CYSLTR2 POU2AF1 SMARCB1 NOD2 GJB2 SDHC FLT4 KRT9 CDH1 IRF1 SEC23B MYCN MGMT RPL10 RPL5 KIF7 TCF3 KRAS MUTYH TMEM127 KRAS IGH CTSC GNAS CD28 WWOX HNF1A BUB1B MC1R WNT10A CBL WT1 BRAF ADAR GAS1 GTF2E2 SMARCB1 RPS17 PARN TMEM127 BRIP1 SHH SRC GNAI3 STAR GDNF SLC22A18 FOXH1 SNAI2 GPC4 TNFRSF13C KARS1 TBC1D24 BMPR1A TET2 CD27 CASP8 DHCR7 KDSR HNF1A SH3GL1 PNP USB1 TSC2 TRIP13 TMEM67 EDN3 PMS1 PTPN11 GNA11 CREB1 ADA RAG2 PRSS1 KCNQ1 GPR101 PRF1 MTAP FANCA MSH6 TRNQ BRCA2 KRT1 RNASEL POU6F2 ACD SCN9A APC NSD2 INTU BRAF POU6F2 BRCA2 RB1 GTF2H5 PIK3CA FANCM