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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation C677T

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There are 35 clinical trials

Clinical Trials


1 RIBOGENE: Optimisation of Riboflavin Status in Hypertensive Adults With a Genetic Predisposition to Elevated Blood Pressure

Approximately 10% of the world's population have a particular genetic makeup (known as the TT genotype) that may increase their risk of having higher blood pressure. Previous work conducted by the investigators research group at the University of Ulster, in collaboration with clinical colleagues from across Northern Ireland, in premature CVD patients and hypertensive adults generally has demonstrated that a dietary level of riboflavin (1.6mg/d) decreases blood pressure, specifically in those with the TT genotype. To date, the blood pressure lowering effects of higher doses of riboflavin in individuals with the TT genotype is not known. The aim of this study is to investigate whether supplementation with riboflavin at a low dose supplemental level (10mg/d) can decrease blood pressure more effectively than the dietary level (1.6mg/d) by optimising riboflavin status and normalising MTHFR activity. This aim will be achieved by conducting a double-blind placebo-controlled intervention study over a 16 week period. Participants will be recruited from cohorts screened for the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism. Those identified with the TT genotype (homozygous for the polymorphism) that wish to participate in this research will be asked to attend a baseline and week-16 appointment and will be asked to take a daily riboflavin (1.6 or 10mg/d) or placebo capsule for the duration of the study. At each appointment a blood sample will be taken and blood pressure, height, weight and waist circumference will be measured. If the results of this study show that intervention with a higher dose of riboflavin can lower blood pressure more effectively in individuals with the TT genotype this will have important implications for those responsible for the management of blood pressure. The findings will be of particular relevance in populations with a higher prevalence of the polymorphism.

NCT02463513
Conditions
  1. Participants With the MTHFR 677TT Genotype
Interventions
  1. Dietary Supplement: Placebo comparator
  2. Dietary Supplement: 1.6mg riboflavin (Vitamin B2)
  3. Dietary Supplement: 10mg riboflavin (Vitamin B2)
MeSH:Hypertension Disease Susceptibility Genetic Predisposition to Disease
HPO:Hypertension

Participants will be recruited from cohorts screened for the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism. --- C677T ---

Primary Outcomes

Description: The aim of this study is to investigate whether a low dose supplemental level (10mg/d) of riboflavin can decrease blood pressure more effectively than the dietary level (1.6mg/d) by optimising riboflavin status and normalising MTHFR activity.

Measure: Blood Pressure

Time: 16 weeks

Secondary Outcomes

Description: Indicator of Vitamin B2 status

Measure: Erythrocyte Glutathione Reductase Activation Coefficient (EGRAC)

Time: 16 weeks

Measure: Plasma Homocysteine

Time: 16 weeks

Measure: Red cell folate

Time: 16 weeks

Measure: Vitamin B12

Time: 16 weeks

Measure: Vitamin B6

Time: 16 weeks

2 Enalapril Maleate and Folic Acid Tablets for Primary Prevention of Stroke in Patients With Hypertension: a Post-marketing, Double-blind, Randomized Controlled Trial.

The purpose of this trial is to confirm that enalapril maleate and folic acid tablets is more effective in preventing stroke among the patients with primary hypertension when compared to enalapril maleate.

NCT00794885
Conditions
  1. Primary Hypertension
Interventions
  1. Drug: Enalapril/folic acid
  2. Drug: Enalapril maleate
MeSH:Hypertension Essential Hypertension
HPO:Hypertension

Inclusion Criteria: - BP≥140/90 mmHg in both of the two screening visits or currently under anti-hypertension treatment - 45 - 75 years old - Successful determination of MTHFR C677T genotype - For pre-menopausal women, agreed to use contraceptives during the trial - Signed the written informed consent Exclusion Criteria: - Having a history of stroke - Having a history of myocardial infarction - Having a history of physician diagnosed heart failure - Post- coronary revascularization - Severe somatic disease such as cancer - Secondary hypertension - Congenital or acquired organic heart diseases - Contraindicated to angiotensin-converting enzyme inhibitor(ACEI) - History of ACEI adverse effects - Currently long-term use of folic acid or vitamin B12 or vitamin B6 - Pregnant or child breastfeeding women - Severe mental disorders - Lab tests indicating abnormal liver or kidney function - Unwilling to participate the trial, unwilling to change the current antihypertensive treatment Inclusion Criteria: - BP≥140/90 mmHg in both of the two screening visits or currently under anti-hypertension treatment - 45 - 75 years old - Successful determination of MTHFR C677T genotype - For pre-menopausal women, agreed to use contraceptives during the trial - Signed the written informed consent Exclusion Criteria: - Having a history of stroke - Having a history of myocardial infarction - Having a history of physician diagnosed heart failure - Post- coronary revascularization - Severe somatic disease such as cancer - Secondary hypertension - Congenital or acquired organic heart diseases - Contraindicated to angiotensin-converting enzyme inhibitor(ACEI) - History of ACEI adverse effects - Currently long-term use of folic acid or vitamin B12 or vitamin B6 - Pregnant or child breastfeeding women - Severe mental disorders - Lab tests indicating abnormal liver or kidney function - Unwilling to participate the trial, unwilling to change the current antihypertensive treatment Primary Hypertension Hypertension Essential Hypertension Primary hypertension is the most important risk factor leading to cardiovascular events. --- C677T ---

Inclusion Criteria: - BP≥140/90 mmHg in both of the two screening visits or currently under anti-hypertension treatment - 45 - 75 years old - Successful determination of MTHFR C677T genotype - For pre-menopausal women, agreed to use contraceptives during the trial - Signed the written informed consent Exclusion Criteria: - Having a history of stroke - Having a history of myocardial infarction - Having a history of physician diagnosed heart failure - Post- coronary revascularization - Severe somatic disease such as cancer - Secondary hypertension - Congenital or acquired organic heart diseases - Contraindicated to angiotensin-converting enzyme inhibitor(ACEI) - History of ACEI adverse effects - Currently long-term use of folic acid or vitamin B12 or vitamin B6 - Pregnant or child breastfeeding women - Severe mental disorders - Lab tests indicating abnormal liver or kidney function - Unwilling to participate the trial, unwilling to change the current antihypertensive treatment Inclusion Criteria: - BP≥140/90 mmHg in both of the two screening visits or currently under anti-hypertension treatment - 45 - 75 years old - Successful determination of MTHFR C677T genotype - For pre-menopausal women, agreed to use contraceptives during the trial - Signed the written informed consent Exclusion Criteria: - Having a history of stroke - Having a history of myocardial infarction - Having a history of physician diagnosed heart failure - Post- coronary revascularization - Severe somatic disease such as cancer - Secondary hypertension - Congenital or acquired organic heart diseases - Contraindicated to angiotensin-converting enzyme inhibitor(ACEI) - History of ACEI adverse effects - Currently long-term use of folic acid or vitamin B12 or vitamin B6 - Pregnant or child breastfeeding women - Severe mental disorders - Lab tests indicating abnormal liver or kidney function - Unwilling to participate the trial, unwilling to change the current antihypertensive treatment Primary Hypertension Hypertension Essential Hypertension Primary hypertension is the most important risk factor leading to cardiovascular events. --- C677T --- --- C677T ---

C677T gene polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) is one of the genetic determinators of plasma tHcy level. --- C677T ---

This trial will enroll 20,000 patients with primary hypertension and with known MTHFR C677T genotype. --- C677T ---

They will be compared by treatment groups with and without stratification by C677T gene polymorphisms. --- C677T ---

The potential interaction between treatment groups and C677T gene polymorphisms on therapeutic efficacy will also be tested. --- C677T ---

Primary Outcomes

Description: Patients are followed-up every 3 months. All endpoint outcomes are assessed by the Endpoint Adjudication Committee of the study.

Measure: First attack of symptomatic stroke ( ischemic or hemorrhagic)

Time: during the trial period

Secondary Outcomes

Measure: Composite major cardiovascular events

Time: during the trial period

Measure: All-cause death

Time: during the trial period

Measure: First attack of ischemic stroke and resultant death

Time: during the trial period

Measure: First attack of hemorrhagic stroke and resultant death

Time: during the trial period

Measure: Myocardial infarction and resultant death

Time: during the trial period

Other Outcomes

Measure: Malignant tumors

Time: during the trial period

3 Efficacy and Safety of Dabigatran in Patients With Cirrhosis and Portal Vein Thrombosis-A Randomized Placebo Controlled Trial

A randomized controlled trial to study the efficacy and safety of Dabigatran in Cirrhotic patients who develop PVT.In this study the patients who meet the inclusion criteria will be randomized to either receive Dabigatran or placebo [multivitamin tablet]. Blood samples will be taken &Imaging will be done accordingly to notice progression or recanalization of PVT.The patients are followed up every 2 months up to 18 month .Then statistical analysis will be done to find whether the Dabigatran is efficacious in cirrhotic patients for recanalization of PVT.

NCT04433481
Conditions
  1. Liver Cirrhosis
  2. Portal Vein Thrombosis
Interventions
  1. Drug: Dabigatran
  2. Other: Placebo
MeSH:Liver Cirrhosis Thrombosis Venous Thrombosis Fibrosis
HPO:Cirrhosis Deep venous thrombosis Hepatic fibrosis Venous thrombosis

All included patients will be evaluated with - 1. Etiology of cirrhosis 2. Upper GI endoscopy 3. Haemogram (including reticulocyte count) 4. Coagulogram- PT/INR,APTT,TEG 5. Prothrombotic profile- protein c/protein-s/AT-III/Factor V Leiden mutation/ MTHFR C677T/PROTHROMBIN G20210A/ JAK2 V617F MUTATION / Anticardiolipin Ab. 6. Liver function tests, Renal function tests 7. Alpha fetoprotein/PIVKA II 8. USG abdomen with Doppler study 9. CECT-TP or CEMRI-TP to R/O HCC or angiography when PVT diagnosis doubtful. --- C677T ---

Primary Outcomes

Measure: Number of participants with complete recanalization of thrombus in both groups.

Time: 1 year

Secondary Outcomes

Measure: Number of participants with partial recanalization of thrombus in both groups.

Time: 1 Year

Measure: Number of participants with improvements in Child-Turcotte-Pugh (CTP) in both groups.

Time: 6 months

Measure: Number of participants with improvements in Child-Turcotte-Pugh (CTP) in both groups.

Time: 1 year

Description: MELD score ranges from 6 to 40.

Measure: Improvements in Model for End Stage Liver Disease (MELD) Score in both groups

Time: 6 months

Description: MELD score ranges from 6 to 40.

Measure: Improvements in Model for End Stage Liver Disease (MELD) Score in both groups

Time: 1 Year

Measure: Number of participants with prevention of secondary decompensation in both groups

Time: 1 Year

Measure: Adverse Events in both groups

Time: 1 year

Measure: To study the changes in coagulation parameters by ROTEM(Rotational Thrombo Elastometry) analysis which includes CFT(clot formation time).

Time: 6 Months

Measure: To study the changes in coagulation parameters by ROTEM(Rotational Thrombo Elastometry) analysis which includes CFT(clot formation time).

Time: 12 Months

Measure: Number of participants with reduction in clinical complications in patients with PVT in both groups

Time: 3 Months

Measure: Number of participants with reduction in clinical complications in patients with PVT in both groups

Time: 6 Months

Measure: Number of participants with reduction in clinical complications in patients with PVT in both groups

Time: 12 Months

Measure: To study the number of participants developing reoccurrence of PVT after treatment with Dabigatran for 12 months by Ultrasound Doppler of splenoportal venous system.

Time: 12 months

4 Influence of Polymorphism C677T MTHFR and Folate Intake in Interleukins, Homocysteine and TNF-α

The C677T polymorphism of the MTHFR gene is associated to several biochemicals imbalances, as changes in folic acid serum levels and some inflammatory markers, elevating the oxidative stress and increasing the risk of developing non communicable diseases (NCDs). Thus, a diet containing folate as a main antioxidant nutrient, could reduce not only the oxidative stress, but also has many others benefits for individuals with this genetic alteration, like the anti-inflammatory function, which could help restore the altered serum levels and minimizing or avoiding the development of future diseases. The aim of this study was to evaluate the influence of the C677T polymorphism of the MTHFR gene and the effect of a diet containing folate in the inflammatory markers levels, such as homocysteine, Tumor Necrosis Factor alpha (TNF-α) and interleukins in women with overweight or obesity. This is an intervention study, double-blind, held in a city in northeastern Brazil, with a sample of 48 adult women (20-59 years old) with BMI among 26.19 kg / m² and 49.64 kg / m². In which we evaluated the TNF-α levels, Interleukins 1β, Interleukin 6, Interleukin 8, Interleukin 12p70, Interleukin 10, homocysteine, folic acid and in addition to these markers evaluation, were made the genotyping for the C677T polymorphism in the MTHFR gene and the food consumption assessment by the 24 hour dietary recall (24HR). For the intervention, the sample was divided by randomization into two groups, each one with 24 indivuals, receiving daily during 8 weeks, a salad with 300g vegetables containing 191 ug of folate for group 1 and 90 ug for group 2.

NCT03186196
Conditions
  1. Overweight and Obesity
Interventions
  1. Dietary Supplement: Diet containing Folate
MeSH:Overweight

Influence of Polymorphism C677T MTHFR and Folate Intake in Interleukins, Homocysteine and TNF-α. --- C677T ---

Polymorphism C677T MTHFR and Folate Intake in Inflammatory Biomarkers The C677T polymorphism of the MTHFR gene is associated to several biochemicals imbalances, as changes in folic acid serum levels and some inflammatory markers, elevating the oxidative stress and increasing the risk of developing non communicable diseases (NCDs). --- C677T ---

Polymorphism C677T MTHFR and Folate Intake in Inflammatory Biomarkers The C677T polymorphism of the MTHFR gene is associated to several biochemicals imbalances, as changes in folic acid serum levels and some inflammatory markers, elevating the oxidative stress and increasing the risk of developing non communicable diseases (NCDs). --- C677T --- --- C677T ---

The aim of this study was to evaluate the influence of the C677T polymorphism of the MTHFR gene and the effect of a diet containing folate in the inflammatory markers levels, such as homocysteine, Tumor Necrosis Factor alpha (TNF-α) and interleukins in women with overweight or obesity. --- C677T ---

In which we evaluated the TNF-α levels, Interleukins 1β, Interleukin 6, Interleukin 8, Interleukin 12p70, Interleukin 10, homocysteine, folic acid and in addition to these markers evaluation, were made the genotyping for the C677T polymorphism in the MTHFR gene and the food consumption assessment by the 24 hour dietary recall (24HR). --- C677T ---

After the selection of individuals from the sample of adults who participated in the II DISANDNT / JP and considering the inclusion criteria and genotyping of the C677T polymorphism in the MTHFR gene, they were invited to participate. --- C677T ---

Primary Outcomes

Measure: Change in value of Interleukins

Time: 8 weeks

Measure: Change in value of homocysteine

Time: 8 weeks

Secondary Outcomes

Measure: Change in value of TNF-α

Time: 8 weeks

Other Outcomes

Measure: Change in value of folic acid

Time: 8 weeks

5 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
Conditions
  1. Recurrent Miscarriage
Interventions
  1. 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 --- --- C677T ---

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

6 A Retrospective Cohort Study: Influence of MTHFR C677T and A1298C Polymorphisms on the Survival of Pediatric Patients With Non-Hodgkin's Lymphoma

The primary purpose of this retrospective study was to investigate the influence of methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphism on the survival of pediatric patients with Non-Hodgkin lymphoma (NHL) treated with modified NHL-BFM95 protocol in south China.

NCT04469543
Conditions
  1. Pediatric Non-Hodgkin Lymphoma
MeSH:Lymphoma Lymphoma, Non-Hodgkin
HPO:Lymphoma Non-Hodgkin lymphoma

A Retrospective Cohort Study: Influence of MTHFR C677T and A1298C Polymorphisms on the Survival of Pediatric Patients With Non-Hodgkin's Lymphoma. --- C677T ---

A Retrospective Cohort Study: Influence of MTHFR C677T and A1298C Polymorphisms on the Survival of Pediatric Patients With Non-Hodgkin's Lymphoma The primary purpose of this retrospective study was to investigate the influence of methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphism on the survival of pediatric patients with Non-Hodgkin lymphoma (NHL) treated with modified NHL-BFM95 protocol in south China. --- C677T ---

A Retrospective Cohort Study: Influence of MTHFR C677T and A1298C Polymorphisms on the Survival of Pediatric Patients With Non-Hodgkin's Lymphoma The primary purpose of this retrospective study was to investigate the influence of methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphism on the survival of pediatric patients with Non-Hodgkin lymphoma (NHL) treated with modified NHL-BFM95 protocol in south China. --- C677T --- --- A1298C --- --- C677T ---

Primary Outcomes

Description: Overall survival time was calculated from the time of initial diagnosis to death

Measure: Death

Time: About six years

Description: Event-free survival (EFS) time was calculated from the time of initial diagnosis to first event.

Measure: Events including progression, relapse, and secondary cancer

Time: About six years

7 Investigating the Involvement of ACE and Angiotensinogen Genes' Polymorphism Along With Other Thrombophilic Genotypes in Severe Forms of COVID-19 With/Without Thrombotic Events

An estimated 22% of the global population is at an increased risk of a severe form of COVID-19, while one in four coronavirus patients admitted to intensive care unit will develop a pulmonary embolism. A major public health question remains to be investigated: why COVID-19 is mild for some, critically severe for others and why only a percentage of COVID-19 patients develop thrombosis, despite the disease's proven hypercoagulable state? Patients' intrinsic characteristics might be responsible for the deep variety of disease forms. Our study aims to assess the validity of the hypothesis according to which underlining genetic variations might be responsible for different degrees of severity and thrombotic events risks in the novel coronavirus disease. Moreover, we suspect that prothrombotic genotypes occuring in the genes that encode angiotensin-converting enzyme (ACE-DEL/INS) and angiotensinogen (AGT M235T) are involved in the unpredictable evolution of COVID-19, both in terms of severity and thrombotic events, due to the strong interactions of SARS-CoV-2 with the renin-angiotensin-aldosterone system (RAAS). Therefore, we also aim to assess the validity of the theory according to which there is a pre-existing atypical modulation of RAAS in COVID-19 patients that develop severe forms and/or thrombosis. Our hypothesis is based on various observations. Firstly, there is a substantial similarity with a reasonably related condition such as sepsis, for which there is a validated theory stating that thrombophilic mutations affect patients' clinical response. Secondly, racial and ethnic genetic differences are responsible for significant dissimilar thrombotic risks among various nations. Thirdly, an increase in stroke incidence has been reported in young patients with COVID-19, without essential thrombosis risk factors, favoring the idea that a genetic predisposition could contribute to increase the thrombotic and thromboembolic risk. Fourthly, the plasminogen activator inhibitor (PAI)-1 4G/5G inherited mutation was found to be responsible for a thrombotic state causing post-SARS osteonecrosis.

NCT04519398
Conditions
  1. Covid19
  2. Corona Virus Infection
  3. Thrombosis
  4. ARDS
  5. Thrombophilia
  6. Thromboses, Intracranial
  7. Thromboses, Deep Vein
  8. RAAS
Interventions
  1. Genetic: Complete thrombophilic profile testing by multiplex PCR
MeSH:Coronavirus Infections Severe Acute Respiratory Syndrome Intracranial Thrombosis Thrombosis Venous Thrombosis Thrombophilia
HPO:Deep venous thrombosis Hypercoagulability Venous thrombosis

Inclusion Criteria: - All hospitalized patients with cough, fever, myalgia - with confirmed COVID-19 infection • All patients with a positive SARS-CoV-2 PCR test Exclusion Criteria: - Patient refusal - Uncertain tests results - Children Inclusion Criteria: - All hospitalized patients with cough, fever, myalgia - with confirmed COVID-19 infection • All patients with a positive SARS-CoV-2 PCR test Exclusion Criteria: - Patient refusal - Uncertain tests results - Children Covid19 Corona Virus Infection Thrombosis ARDS Thrombophilia Thromboses, Intracranial Thromboses, Deep Vein RAAS Coronavirus Infections Severe Acute Respiratory Syndrome Intracranial Thrombosis Thrombosis Venous Thrombosis Thrombophilia The study's protocol will cover the following steps: • Collected data from COVID-19 patients at admission will include: - Descriptive general demographic data - Previous pathologies and thrombosis risk factors - Routine biological data (the blood routinely collected will also be used for SARS-Cov-2 specific RT-PCR exam) Complete thrombophilic profile testing by multiplex PCR and reverse hybridization of DNA to assess the presence of prothrombotic genotypes: - Factor V Leiden - Factor V 4070 A G (Hr2) - Factor II G20210A - Methylenetetrahydrofolate reductase (MTHFR) C677T - MTHFR A1298C - Cystathionine β-synthase (CBS) 844ins68 - PAI-1 4G/5G - Glycoprotein IIIa T1565C (HPA-1a/b) - ACE-DEL/INS - Apolipoprotein E (ApoE) - AGT M235T - Angiotensin II type 1 receptor (ATR-1) A1166C - Fibrinogen - 455 G A - Factor XIII Val34Leu SpO2, respiratory rate, PaO2/FiO2 RAAS components - Imagistic procedures (chest X-ray or CT) - All patients with a positive SARS-CoV-2 PCR test will be included - Patients will be divided into three groups depending on disease severity and the presence of thrombotic state: - 1st group includes COVID-19 patients with proved - venous thrombosis (deep vein thrombosis, pulmonary embolism or venous thrombosis occurring in more atypical places such as in the veins of the brain, liver, kidney, mesenteric vein and the veins of the arms) - or arterial thrombosis (heart attacks, strokes) - 2nd group encompasses asymptomatic patients and those with mild or moderate disease, according to current guidelines, without thrombosis: no symptoms or evidence of lower respiratory disease by clinical assessment or imaging and a SpO2 ≥ 94% - 3rd group includes severe disease, according to current guidelines, without thrombosis: respiratory frequency > 30 breaths per minute, SpO2 < 94%, PaO2/FiO2 < 300 mmHg, or lung infiltrates >50% - Statistical methods will be employed to check for significant differences between prothrombotic mutations frequency and RAAS components levels for the three groups --- G20210A --- --- C677T ---

Primary Outcomes

Description: The difference of prothrombotic genotypes frequency between the three groups

Measure: Number of patients with thrombophilic profile alterations

Time: One year

Secondary Outcomes

Description: The differences of RAAS components levels between the three groups

Measure: Number of patients with RAAS components alterations

Time: One year

8 Polymorphism C677T MTHFR and Diet With Folate in Oxidative Stress, Lipid Profile and Homocysteine

The C677T polymorphism in the MTHFR gene is related to several significant biochemical changes, as dyslipidemia, changes in serum levels of homocysteine, folic acid, vitamin B12 and some oxidative stress markers such as the CAT and MDA, leading to a high risk of the emergence of cardiovascular disease (CVD). A diet containing antioxidants, especially folate, is characterized by being beneficial for individuals with this genetic alteration to possess anti-inflammatory function, act on and oxidative stress play an important gene function. The aim of this study was to evaluate the influence of the C677T polymorphism of the MTHFR gene and the effect of a diet containing folate on oxidative stress, lipid profile and homocysteine levels in adult women are overweight or obese. This is an intervention study, double-blind, held in a city in northeastern Brazil. The study included 48 adult women (20-59 years old) with BMI of 26.19 kg / m² and 49.64 kg / m², in which we evaluated the CAT levels, MDA, lipid profile, folic acid, homocysteine and vitamin B12 addition genotyping for the C677T polymorphism in the MTHFR gene and the food consumption by the food recall 24 hours, being divided by randomization into two groups received daily for 8 weeks, 300g vegetables rich in folate containing 191 ug and 90 ug of this nutrient.

NCT02953522
Conditions
  1. Overweight and Obesity
Interventions
  1. Other: 191 mcg/day of Folate
  2. Other: 90 mcg / day of Folate
MeSH:Overweight

Polymorphism C677T MTHFR and Diet With Folate in Oxidative Stress, Lipid Profile and Homocysteine. --- C677T ---

Polymorphism C677T MTHFR and Effects of Folate Intake The C677T polymorphism in the MTHFR gene is related to several significant biochemical changes, as dyslipidemia, changes in serum levels of homocysteine, folic acid, vitamin B12 and some oxidative stress markers such as the CAT and MDA, leading to a high risk of the emergence of cardiovascular disease (CVD). --- C677T ---

Polymorphism C677T MTHFR and Effects of Folate Intake The C677T polymorphism in the MTHFR gene is related to several significant biochemical changes, as dyslipidemia, changes in serum levels of homocysteine, folic acid, vitamin B12 and some oxidative stress markers such as the CAT and MDA, leading to a high risk of the emergence of cardiovascular disease (CVD). --- C677T --- --- C677T ---

The aim of this study was to evaluate the influence of the C677T polymorphism of the MTHFR gene and the effect of a diet containing folate on oxidative stress, lipid profile and homocysteine levels in adult women are overweight or obese. --- C677T ---

The study included 48 adult women (20-59 years old) with BMI of 26.19 kg / m² and 49.64 kg / m², in which we evaluated the CAT levels, MDA, lipid profile, folic acid, homocysteine and vitamin B12 addition genotyping for the C677T polymorphism in the MTHFR gene and the food consumption by the food recall 24 hours, being divided by randomization into two groups received daily for 8 weeks, 300g vegetables rich in folate containing 191 ug and 90 ug of this nutrient. --- C677T ---

After the selection of individuals from the sample of adults who participated in the II DISANDNT / JP and considering the inclusion criteria and genotyping of the C677T polymorphism in the MTHFR gene, they were invited to participate. --- C677T ---

Primary Outcomes

Description: Change in value of total antioxidant capacity

Measure: Change in value of total antioxidant capacity

Time: 8 weeks

9 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
Conditions
  1. Livedo Vasculitis
  2. Livedoid Vasculitis
  3. Livedoid Vasculopathy
  4. Genetic Pleomorphism
  5. 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 --- --- C677T ---


10 Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine in Patients With Mild to Moderate Hypertension and Hyperhomocysteinemia :a Double-blind Randomized Controlled Trial

To evaluate the efficacy of Amlodipine-folic Acid Tablets on reduction of blood pressure and plasma homocystein.

NCT01848873
Conditions
  1. Essential Hypertension
Interventions
  1. Drug: Amlodipine
  2. Drug: amlodipine-FA tablet, low dose group
  3. Drug: amlodipine-FA tablet ,high dose group
MeSH:Hypertension Essential Hypertension Hyperhomocysteinemia
HPO:Hypertension

Polymorphism of MTHFR C677T leads to a reduction in enzyme activity, which may lead to an increased concentration of plasma homocysteine and lower levels of serum folate, particularly in those with low folate intake. --- C677T ---

In the present study, we sought to assess: (1) the efficacy and safety of Amlodipine-folic Acid Tablets in lowering blood pressure and homocystein in patients with mild to moderate hypertension and hyperhomocysteinemia (hcy≥10μmol/L);(2) if the blood pressure and homocysteine-lowering efficacy of Amlodipine-folic Acid Tablets can be modified by individual methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms. --- C677T ---

MTHFR C677T genotypes were determined for each study subject. --- C677T ---

Primary Outcomes

Measure: Combined effective rate of blood pressure and plasma homocysteine reduction

Time: Blood pressure was examined at baseline and every 2 weeks for a total period of 8 weeks. Blood homocysteine concentrations were measured at baseline and at 4 and 8 weeks of the trial.

Secondary Outcomes

Measure: Blood pressure reduction or plasma homocysteine reduction

Time: Blood pressure was examined at baseline and every two weeks for a total period of 8 weeks. Blood homocysteine concentrations was examined at baseline and at 4 and 8 weeks of the trial.

Other Outcomes

Measure: 24-hour ambulatory blood pressure

Time: 24-hour ambulatory blood pressure were examined at baseline and at 8 weeks of the trial in 96 participants.

11 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
Conditions
  1. Idiopathic SSNHL
  2. Age Over 18
Interventions
  1. 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 --- --- C677T ---

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

12 Association of the C677T and A1298C MTHFR Polymorphisms With Chemotherapy Effectiveness Among Patients With Metastatic Colorectal Cancer

Fluoropyrimidines are the backbone of chemotherapy regimes used to treat metastatic colorectal cancer (CRC). These drugs act in different pathways of folate metabolism altering DNA synthesis mainly by inhibition of the tymidylate synthase. For this reaction the 5,10-methylenetetrahydrofolate acts as cofactor. It has been demonstrated that A1298C and C677T polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene result in reduced enzyme activity that leads to reduced availability of this important cofactor. Hence, we hypothesized that the presence of these polymorphisms are related to the efficacy and toxicity of fluoropyrimidines in patients with CRC.

NCT03852290
Conditions
  1. Colon Cancer
  2. MTHFR Gene Mutation
  3. Chemotherapeutic Toxicity
  4. Chemotherapy Effect
MeSH:Colonic Neoplasms
HPO:Colon cancer Neoplasm of the colon

Association of the C677T and A1298C MTHFR Polymorphisms With Chemotherapy Effectiveness Among Patients With Metastatic Colorectal Cancer. --- C677T ---

C677T and A1298C MTHFR Polymorphisms and Fluoropyrimidine Effectiveness in Metastatic Colon Cancer Fluoropyrimidines are the backbone of chemotherapy regimes used to treat metastatic colorectal cancer (CRC). --- C677T ---

It has been demonstrated that A1298C and C677T polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene result in reduced enzyme activity that leads to reduced availability of this important cofactor. --- A1298C --- --- C677T ---

Assessment of C677T and A1298C MTHFR polymorphisms and overall survival. --- C677T ---

Assessment of C677T and A1298C MTHFR polymorphisms and progression-free survival. --- C677T ---

Assessment of C677T and A1298C MTHFR polymorphisms and response rate. --- C677T ---

Assessment of C677T and A1298 MTHFR polymorphisms and toxicity. --- C677T ---

Prospective assessment of toxicity according to the National Cancer Institute Common Toxicity Criteria (NCI-CTC) 4.0 criteria according to the C677T and A1298C polymorphisms. --- C677T ---

DNA extraction will be done from blood and tissue samples to determine the C677T (rs1801133) and 1298 A>C (rs18011131) polymorphisms of the MTHFR gene. --- C677T ---

Primary Outcomes

Description: Overall survival

Measure: Assessment of C677T and A1298C MTHFR polymorphisms and overall survival

Time: From the start date of treatment until the date of death from any cause, assessed up to 24 months

Description: Progression-Free survival

Measure: Assessment of C677T and A1298C MTHFR polymorphisms and progression-free survival

Time: From the start date of treatment until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 24 months

Description: Response rate

Measure: Assessment of C677T and A1298C MTHFR polymorphisms and response rate

Time: From the start date of treatment until the first radiological or clinical assessment, up to 6 months.

Secondary Outcomes

Description: Prospective assessment of toxicity according to the National Cancer Institute Common Toxicity Criteria (NCI-CTC) 4.0 criteria according to the C677T and A1298C polymorphisms

Measure: Assessment of C677T and A1298 MTHFR polymorphisms and toxicity

Time: From treatment initiation to detected toxicity during treatment with any fluoropyrimidine alone or in combination with oxaliplatin, irinotecan or any biological treatment as first line therapy of colorectal metastatic cancer (up to 24 months)

13 Enalapril Maleate and Folic Acid Tablets for Prevention of Chronic Kidney Diseases in Patients With Hypertension: a Double-blind Randomized Controlled Trial

The purpose of this trial is to confirm that enalapril maleate and folic acid tablets is more effective in preventing renal function decline among the patients with primary hypertension when compared to enalapril maleate.

NCT01871740
Conditions
  1. Hypertension
  2. Hyperhomocysteinemia
Interventions
  1. Drug: Enalapril maleate and folic acid tablets
  2. Drug: Enalapril maleate
MeSH:Kidney Diseases Renal Insufficiency, Chronic Hypertension Hyperhomocysteinemia
HPO:Abnormality of the kidney Chronic kidney disease Hypertension Nephropathy

The composite endpoint is consisted of: 1)End stage renal disease (ESRD);2)Doubling of serum creatinine; and 3)Renal disease-induced death.. Inclusion Criteria: - BP≥140/90 mmHg in both of the two screening visits or currently under anti-hypertension treatment; - 45-75 years old; - Successful determination of methylenetetrahydrofolate reductase (MTHFR) C677T genotype; - For pre-menopausal women, agreed to use contraceptives during the trial; - Signed the written informed consent. --- C677T ---

Inclusion Criteria: - BP≥140/90 mmHg in both of the two screening visits or currently under anti-hypertension treatment; - 45-75 years old; - Successful determination of methylenetetrahydrofolate reductase (MTHFR) C677T genotype; - For pre-menopausal women, agreed to use contraceptives during the trial; - Signed the written informed consent. --- C677T ---

Primary Outcomes

Description: Renal function decline was defined based on one of more of the following : (1) A certain drop in eGFR, was defined as a drop in GFR category (≥90[G1], 60-89[G2], 45-59[G3a], 30-44[G3b], 15-29[G4], <15[G5] ml/min/1.73m2) accompanied by a 25% or greater drop in eGFR from baseline; (2) Rapid progression, was defined as a sustained decline in eGFR of more than 5 ml/min/1.73m2/yr.

Measure: Renal function decline

Time: Serum creatinine was examined at baseline and at the final visit (5 years) of the trial.

Secondary Outcomes

Measure: Average decline rate in eGFR (ml/min/1.73m2/yr).

Time: Serum creatinine was examined at baseline and at the final visit (5 years) of the trial.

Measure: New-onset chronic kidney disease based on eGFR(eGFR<60 ml/min/1.73 m2)

Time: Serum creatinine was examined at baseline and at the final visit (5 years) of the trial.

Measure: New-onset albuminuria

Time: Albuminuria was examined at baseline and at the final visit (5 years) of the trial.

Description: The composite endpoint is consisted of: 1)End stage renal disease (ESRD);2)Doubling of serum creatinine; and 3)Renal disease-induced death.

Measure: A composite of renal events.

Time: Every 3 months during the trial, up to 5 years

14 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
Conditions
  1. Premature
  2. Thrombosis
Interventions
  1. 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 --- --- C677T ---

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

15 Parental One-carbon Folate and Choline Nutrition Modulates Risk of Off-spring Cancer Development: Human Cohort Study

Parental one-carbon nutrient intake (folic acid and choline) and the genetic polymorphisms of one-carbon metabolic enzyme were interact with regulating embryonic one-carbon metabolic environment, affect fetal DNA and RNA biosynthesis and methyl modification of the genome molecule, to promote the individual nutrient growth factor of growth and development. Inadequate maternal one-carbon nutrient intake combined with genetic polymorphisms of one-carbon enzymatic mutation, causing one-carbon malnutrition, change fetal methyl metabolic nutrition environment. It not only leads to fetal growth mutation - such as folate and choline deficiency, increasing the risk of fetal neural tube defect but also induce abnormal modifying of fetuses's post-genomic methylation markers, may alter imprinted genes function of progenitors, recompile threshold sensitivity or domain in regulation of metabolic reactions of offspring, resulting in long-lasting effect, increasing the risk of chronic diseases of offspring such as cancer. According to the National Nutrition Survey results show that a considerable proportion of the Taiwanese people had poor one-carbon nutritional status. 48% of women intake 66% below the recommended intake reference value of folate. Whether inadequate parental one-carbon nutrients intake combined with genetic polymorphisms of one-carbon enzymatic mutation will cause one-carbon malnutrition of fetus, affecting fetal growth and modifying the risk of cancer development relationship of offspring. It is due to the lack of local ethnic data and empirical scientific reference at home and abroad, so it can not plan an effective maternal and children nutrient education and prevention strategies about methyl nutrition for early cancer prevention for Taiwanese. Therefore, indigenous people is the intended population of study in this project, screening of healthy pregnant women with high risk factor for cancer and obese pregnant women, and detection of one-carbon nutrient intake and biochemical assessment of the nutritional status of the study group. Supplying nutrition education intervention or multivitamin supplement to improve the poor nutritional status of persons. Using related DNA methylation imprint marker about offspring growth and modifying development of cancer as assessment, this project explores the appropriate one-carbon nutrient intake in parents and children and the assessments in regulation of growth and reducing the cancer-related risk.

NCT02266641
Conditions
  1. Off-spring Cancer Risk
Interventions
  1. Behavioral: nutrition counseling
  2. Dietary Supplement: multivitamin supplement

Measure maternal and cord blood and placenta tissues MTHFR C677T genotypes. --- C677T ---

Primary Outcomes

Description: Using semiquantitative food frequency questionnaires (FFQ) to calculate dietary intake of one-carbon nutrient

Measure: Assessment of maternal one-carbon nutrient (folate, choline, betaine, Vitamine B12) intake at the first trimester visit of pregnancy

Time: 7-10 weeks

Description: Using 24 hours dietary recall and dietary record to calculate dietary intake of one-carbon nutrient

Measure: Assessment of maternal one-carbon nutrient (folate, choline, betaine, Vitamine B12) intake at the second trimester of pregnancy

Time: 20-28 weeks

Description: Using 24 hours dietary recall and dietary record to calculate dietary intake of one-carbon nutrient

Measure: Assessment of maternal one-carbon nutrient (folate, choline, betaine, Vitamine B12) intake at the third trimester of pregnancy

Time: 36-37 weeks

Secondary Outcomes

Measure: Measure maternal blood and urine biochemistry (folate, choline, betaine, homocysteine, Vitamine B2, Vitamine B6, Vitamine B12, etc.)

Time: 7-10 weeks

Measure: Measure maternal blood imprinted genes (sonic hedgehog, insulin-like growth factor 2, long interspersed nuclear element 1, etc.) DNA methylation status, DNA 8-Hydroxydeoxyguanosine (8-OHdG) and inflammatory markers (TNF-α, NF-κB, Interleukin, etc.)

Time: 7-10 weeks

Measure: Measure maternal blood and urine biochemistry (folate, choline, betaine, homocysteine, Vitamine B2, Vitamine B6, Vitamine B12, etc.)

Time: 24-28 weeks

Measure: Measure maternal blood imprinted genes (sonic hedgehog, insulin-like growth factor 2, long interspersed nuclear element 1, etc.) DNA methylation status, DNA 8-Hydroxydeoxyguanosine and inflammatory markers (TNF-α, NF-κB, Interleukin, etc.)

Time: 24-28 weeks

Measure: Measure maternal blood, cord blood and urine biochemistry (folate, choline, betaine, homocysteine, Vitamine B2, Vitamine B6, Vitamine B12, etc.)

Time: 37-40 weeks

Measure: Measure maternal and cord blood and placenta tissues MTHFR C677T genotypes

Time: 37-40 weeks

Measure: Measure maternal blood imprinted genes (sonic hedgehog, insulin-like growth factor 2, long interspersed nuclear element 1, etc.) DNA methylation status, DNA 8-Hydroxydeoxyguanosine (8-OHdG) and inflammatory markers (TNF-α, NF-κB, Interleukin, etc.)

Time: 37-40 weeks

16 Role of Vitamin B12 Supplementation During Pregnancy and Postpartum to Reduce Nutritional Anemia and Improve Immunity in Bangladeshi Women and Their Infants

Nutritional anemia is a major public health problem among children and women in developing countries. Despite ongoing national program of supplementing pregnant women with iron-folate, prevalence of anemia is 39% among pregnant women and 78% among infants in Bangladesh. Vitamin B12 deficiency is a more prevalent cause of megaloblastic anemia than folate in many developing countries. This data raises the interest to address the role of vitamin B12 deficiency in nutritional anemia. Low dietary intake of animal products, a predominant source of vitamin B12 may cause anemia. Besides maintaining normal erythropoiesis, B12 is essential for immune function. However, no studies have evaluated the effect of maternal B12 supplementation on reduction of anemia and improving immunity of their infants. The investigators hypothesize that vitamin B12 supplementation plus iron-folate during pregnancy and 3-mo postpartum would: (a) Decrease anemia among mothers and infants; (b) Improve vaccine specific cellular and humoral immune responses among mothers; (c) Improve vaccine specific immunity in infants by passive transfer; (d) Improve DNA methylation and one-carbon metabolism in mother-child pairs; (e) Reduce antenatal/postnatal depression. Results from this study will guide and provide support to the policy makers to identify effective strategies to reduce nutritional anemia in population at risk. The investigators aim to conduct a double-masked placebo controlled trial to investigate the added effect of vitamin B12 on the iron-folate supplementation among pregnant women. Anemic (Hb level <11.0 g/dl) mothers at 11-14 weeks of gestation will be randomized into two groups: supplement group will receive 250 ug vitamin B12 plus 400 ug folate and 60 mg iron; placebo group will receive folate and iron only. This daily supplementation will continue up to 3-mo postpartum. At 26-28 wk of gestation mothers will be given inactivated influenza vaccine. Data on anthropometric indices of mothers and children, birth size, infant growth and morbidity (mothers and children) throughout the study period will be recorded. 24-h dietary recall data will be collected from the mothers bimonthly throughout the study. Biochemical indicators of anemia including Hb, vitamin B12, ferritin, folate and α-glycoprotein (AGP) will be assessed in plasma of mothers (pre- and post-supplementation) and infants (cord blood and 3-months). Additional measurements include serum transferrin receptor (sTfR) in plasma and methyl malonic acid (MMA) and total homocysteine (tHcy) in the urine of mothers. Plasma vaccine specific antibody responses will be measured in mothers (pre- and post supplementation) and in infants (cord blood and 3-months). In breast milk, B12, folate and s-IgA will be determined. Genetic polymorphism (one-carbon metabolism) and DNA methylation will be studied in mothers and in cord blood.

NCT01795131
Conditions
  1. Nutritional Anemia in Mothers.
  2. Nutritional Anemia in Infants.
Interventions
  1. Dietary Supplement: Vitamin B12
  2. Dietary Supplement: Placebo
MeSH:Anemia
HPO:Anemia

Mutations in the ALPL, MTHFR C677T and FUT2 genes will be determined by PCR- RFLP assay and DNA sequencing.. Reduce depression scores. --- C677T ---

Mutations in the ALPL, MTHFR C677T and FUT2 genes will be determined by PCR- RFLP assay and DNA sequencing. --- C677T ---

Primary Outcomes

Description: The investigators will determine the percentage of nutritional anemia in mothers by measuring Hb, ferritin, sTfR, B12 levels in plasma. They will also measure urinary MMA and tHcy and B12 levels in breast milk.

Measure: a) Percent reduction in nutritional anemia among mothers (based on measurement of Hb, ferritin, sTfR, folate, B12 levels in plasma; urinary MMA and tHcy; B12 levels in breast milk.)

Time: 24 months

Description: Influenza vaccine-specific antibody responses (IgA, IgG) in plasma and colostrum/ breast milk [secretory IgA (s-IgA)] will be measured by ELISA. PBMC will be stimulated with Flu vaccine for blastogensis response.

Measure: Increase in influenza vaccine specific cellular and humoral responses among mothers (blastogenesis and T cell phenotyping,serum IgA, and IgG).

Time: 24 monnths

Description: Influenza vaccine-specific antibody responses (IgA, IgG) in plasma and colostrum/ breast milk [secretory IgA (s-IgA)] will be measured by ELISA. PBMC will be stimulated with Flu vaccine for blastogensis response.

Measure: Increase in influenza vaccine specific immunity in infants by passive transfer (vaccine specific IgG in cord blood and breast milk and IgA in children at 3 mo).

Time: 24 months

Description: The investigators will determine the percentage of nutritional anemia in mothers by measuring Hb, ferritin, B12 levels in plasma.

Measure: Percent reduction in nutritional anemia in infants (based on measurement of Hb, ferritin, B12 levels in plasma;

Time: 24 months

Secondary Outcomes

Description: Genomic DNA methylation will be measured by the methyl acceptance assay . Total homocysteine (tHcy) will be measured in urine samples by using HPLC with fluorimetric detection. Mutations in the ALPL, MTHFR C677T and FUT2 genes will be determined by PCR- RFLP assay and DNA sequencing.

Measure: Effect of B12 status on DNA methylation and one-carbon metabolism in mother-child pairs.

Time: 24 months

Description: Participants will be interviewed on their mental status using the Centre for Epidemiological Studies-Depression questionnaire. The questionnaire contains 20 items comprising six major aspects of depression: depressed mood, hopelessness, worthlessness, fatigue, appetite and sleep disturbances. It has been previously used in rural and urban Bangladeshi women (J Hamadani) and found to correlate sensibly to children's growth and development. The interview will be conducted twice at the homes of the women first at baseline and at 3 mo postpartum.

Measure: Reduce depression scores

Time: 24 months

17 A Randomized, Double-Blind, Controlled Trial on the Homocysteine-Lowering Effects of Different Doses of Folic Acid Among Patients With Hypertension According to Methylenetetrahydrofolate Reductase C677T Genotypes

This is a multicenter, randomized, double-blind, controlled clinical trial. It aims to investigate the effects of different doses of folic acid on lowering homocysteine (Hcy) in patients with hypertension with different genotypes of MTHFR C677T and to determine a dose-response relationship. This study consists of 3 phases: screening ( 2-10 days ), run-in period (0-2 weeks), and double-blind treatment (8 weeks). Follow-up visits will take place at the beginning of both the run-in period and the double-blind treatment period, and at the end of the 2nd, 4th, 6th, and 8th weeks. Hypertensive patients demonstrating good tolerance and adherence to angiotensin converting enzyme inhibitor (ACEI) drugs and who have already been genotyped for MTHFR C677T polymorphism may pass over the run-in period and directly enter the double-blind randomized treatment period. No medications that could affect the assessment of efficacy may be taken during any stage of the study.

NCT03472508
Conditions
  1. Hypertension
Interventions
  1. Drug: Folic Acid
  2. Drug: Enalapril Maleate and Folic Acid Tablets (Yiye)
  3. Drug: Enalapril
MeSH:Hypertension
HPO:Hypertension

A Randomized, Double-Blind, Controlled Trial on the Homocysteine-Lowering Effects of Different Doses of Folic Acid Among Patients With Hypertension According to Methylenetetrahydrofolate Reductase C677T Genotypes. --- C677T ---

It aims to investigate the effects of different doses of folic acid on lowering homocysteine (Hcy) in patients with hypertension with different genotypes of MTHFR C677T and to determine a dose-response relationship. --- C677T ---

Hypertensive patients demonstrating good tolerance and adherence to angiotensin converting enzyme inhibitor (ACEI) drugs and who have already been genotyped for MTHFR C677T polymorphism may pass over the run-in period and directly enter the double-blind randomized treatment period. --- C677T ---

Inclusion Criteria for Double-Blind Treatment Period: - (1)Completed MTHFR C677T gene polymorphism detection in run-in period or MTHFR C677T genotype already known in advance; - (2)Exhibited good tolerance to enalapril and good overall medication compliance (>80%) in run-in period or previously exhibited good tolerance and adherence to ACEI drugs in previous medication history. --- C677T ---

Inclusion Criteria for Double-Blind Treatment Period: - (1)Completed MTHFR C677T gene polymorphism detection in run-in period or MTHFR C677T genotype already known in advance; - (2)Exhibited good tolerance to enalapril and good overall medication compliance (>80%) in run-in period or previously exhibited good tolerance and adherence to ACEI drugs in previous medication history. --- C677T --- --- C677T ---

MTHFR C677T genotype will also be determined during this phase. --- C677T ---

Hypertensive patients demonstrating good tolerance and adherence to angiotensin converting enzyme inhibitor (ACEI) drugs and who have already been genotyped for MTHFR C677T polymorphism may pass over the run-in period and directly enter the double-blind randomized treatment period. --- C677T ---

Patients who remain eligible for participation in the study will first be stratified by gender and MTHFR C677T genotype (CC, CT, TT), for a total of 6 strata at the start of V2. --- C677T ---

For participants who complete the run-in period and are eligible to remain in the study, a randomized treatment allocation list will be generated using a stratified, block-wise, randomized approach by MTHFR C677T genotype and gender. --- C677T ---

Primary Outcomes

Description: Hcy percent decrease =(baseline Hcy - end Hcy) /baseline Hcy *100%

Measure: Percentage decrease in blood homocysteine levels by the end of the 8th week from baseline.

Time: by the end of the 8th week from the baseline

Secondary Outcomes

Description: Absolute Hcy reduction (μmol/L) = baseline Hcy - end Hcy

Measure: Magnitude of decrease in blood homocysteine by the end of the 8th week from baseline.

Time: by the end of the 8th week from the baseline

Description: Folate increase rate=(end folate- baseline folate)/baseline folate *100% folate increase magnitude= end folate - baseline folate

Measure: Percentage of increase in blood folate levels by the end of the 8th week from baseline.

Time: by the end of the 8th week from the baseline

Description: Absolute folate reduction (μmol/L)= baseline folate - end folate

Measure: Magnitude of increase in blood folate levels by the end of the 8th week from baseline.

Time: by the end of the 8th week from the baseline

18 Methylenetetrahydrofolate Reductase C677T Mutation, Other Variant Genotypes, and Male Infertility

This study is being conducted at the University Hospital of Lund University in Malmo, Sweden, in collaboration with the U.S. National Institute of Child Health and Human Development. The study will try to identify genetic causes of impaired sperm production and male infertility. It will focus on the possible role of the MTHFR and CBS genes, which regulate absorption and metabolism of the vitamin, folate in infertility. If the nutritional intake or metabolism of this vitamin is related to male infertility, then this cause of infertility would be potentially curable. Fertile and infertile men between 20 and 45 years of age may be eligible for this study. Criteria include the following: - Fertile men: men whose partners are younger than age 40 and are attending Lund University prenatal clinic; who have fathered one or more pregnancies and who stopped birth control to achieve the present pregnancy; who achieved the present pregnancy in less than 12 months of unprotected intercourse. - Infertile men: men referred to the Scandian Andrology Centre whose infertility is unexplained, whose partners are younger than age 40 and who have had regular sexual intercourse without contraception for at least 12 months without achieving a pregnancy. All participants will have the following tests and procedures: - Complete a questionnaire providing information about their reproductive and medical history and recent dietary history; - Provide blood samples for analysis of red cell folate, plasma folate, plasma homocysteine, plasma B12, and for genetic evaluation; - Provide a semen sample for routine analysis, including volume, sperm concentration, sperm motility, and sperm morphology. In addition, infertile men will undergo a physical examination and review of their medical records.

NCT00341120
Conditions
  1. Male Infertility
MeSH:Infertility Infertility, Male
HPO:Infertility Male infertility

Methylenetetrahydrofolate Reductase C677T Mutation, Other Variant Genotypes, and Male Infertility. --- C677T ---


19 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
Conditions
  1. 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 --- --- G20210A --- --- C677T ---

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 --- --- C677T --- --- C677T ---


20 Efficacy of Amlodipine-Folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine in Patients With Mild to Moderate Hypertension, Hyperhomocysteinemia and Angiotension-Converting Enzyme Inhibitor Intolerance

To evaluate the efficacy of Amlodipine-Folic Acid Tablets on reduction of blood pressure and plasma total homocysteine.

NCT01956786
Conditions
  1. Essential Hypertension
Interventions
  1. Drug: Amlodipine-FA tablet,low dose group
  2. Drug: Amlodipine-FA tablet,high dose group
  3. Drug: Amlodipine
MeSH:Hypertension Essential Hypertension
HPO:Hypertension

Polymorphism of MTHFR C677T leads to a reduction in enzyme activity, which may lead to an increased concentration of plasma homocysteine and lower levels of serum folate, particularly in those with low folate intake. --- C677T ---

In the present study, we sought to assess:(1)the efficacy and safety of Amlodipine-Folic Acid Tablets in lowing blood pressure and homocysteine in patients with mild to moderate hypertension, hyperhomocysteinemia (hcy≥10μmol/L)and ACEI intolerance;(2)whether the blood pressure and homocysteine-lowing efficacy of Amlodipine-Folic Acid Tablets can be modified by individual MTHFR C677T polymorphisms. --- C677T ---

MTHFR C677T genotypes were determined for each study subject. --- C677T ---

Primary Outcomes

Measure: Combined effective rate of blood pressure and plasma homocysteine reduction

Time: Blood pressure was examined at baseline and every 2 weeks for a total period of 8 weeks.Blood homocysteine concentrations were measured at baseline and at 4th and 8th week of the trial.

Secondary Outcomes

Measure: Blood pressure reduction or plasma homocysteine reduction

Time: Blood pressure was examined at baseline and every 2 weeks of a total period of 8 weeks. Blood homocysteine concentrations was examined at baseline and at 4th and 8th week of the trial.

21 Analysis of Human Genomic DNA in Embryo's Culture Media Targeting on a Single Gene Disease and Point Mutations

try to find genomic DNA in culture medium after the embryos develop on Day 3 and Day 5 also in single step culture media. using direct PCR Polymerase Chain Reaction and also WGA Whole Genome Amplification before PCR and sequencing of the samples to find the point mutation

NCT02359747
Conditions
  1. Single-Gene Disease
Interventions
  1. Genetic: Polymerase Chain Reaction and Whole Genome Amplification

Quantification will be made with a standard curve constructed with genomic DNA (with culture media -day 3 and day5-, to take into account media inhibitory effects) TSPY1 amplification will be use to assess the presence of Y chromosome WGA followed by PCR on a single copy gene (MTHFR gene) will be performed on a subset of some samples to monitor the C677T polymorphism (genotyping by sequencing) WGA followed by PCR on a single copy gene (MTHFR) will be also performed on blastocoele fluids --- C677T ---

Primary Outcomes

Measure: genomic DNA in culture medium (pg)

Time: 1 year

Secondary Outcomes

Description: amplification of point mutation with PCR (polymerase chain reaction)

Measure: amplification of point mutation

Time: 1 year

22 A Phase I Study of Pemetrexed (LY231514, Alimta) in Children and Adolescents With Recurrent Solid Tumors

RATIONALE: Drugs used in chemotherapy, such as pemetrexed disodium, use different ways to stop tumor cells from dividing so they stop growing or die. Pemetrexed disodium may stop the growth of tumor cells by blocking the enzymes necessary for their growth. PURPOSE: This phase I trial is studying the side effects and best dose of pemetrexed disodium in treating young patients with recurrent solid tumors.

NCT00070473
Conditions
  1. Unspecified Childhood Solid Tumor, Protocol Specific
Interventions
  1. Drug: pemetrexed disodium
MeSH:Neoplasms
HPO:Neoplasm

- Correlate the presence of the C677T polymorphism of the methylenetetrahydrolate reductase gene, the presence of a polymorphism in the enhancer region of the thymidylate synthase (TS) gene promoter (2R and 3R tandem repeats), the presence of a polymorphism within one of those repeats, and the presence of a functional polymorphism in the 3'-untranslated region with toxicity in patients treated with this drug. --- C677T ---

Primary Outcomes

Measure: Event Free Survival

Time: Length of study

Secondary Outcomes

Description: Any patient who experiences DLT at any time during protocol therapy will be considered evaluable for toxicity. Patients not experiencing DLT must complete a full cycle of therapy to be considered potentially evaluable for toxicity. Patients who are not evaluable for toxicity will be replaced.

Measure: Dose Limiting Toxicity

Time: Length of study

Description: The MTD will be that dose at which fewer than one-third of patients experience DLT

Measure: Maximum Tolerated Dose

Time: Length of study

23 The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study

This study will examine whether the tendency to have thrombosis, or the formation of blood clots inside blood vessels, has a role in the development of pseudotumor cerebri (PTC). PTC causes symptoms and signs of isolated elevated blood pressure in the cranium, or covering of the brain. The disorder can lead to significant, negative effects on the visual system. Increased pressure of the cerebrospinal fluid, that is, fluid around the brain, is a factor, but the cause of the disorder is not clear. There has been documentation of clustering of PTC within families. It suggests that potential genetic polymorphisms-abilities to take on different forms-may become evident after exposure to conditions known to trigger PTC. Thrombosis comes about by interactions between genetic and environmental or acquired factors, or both, resulting in a blood clot at a specific time and location. Because the disease occurs in episodes, the interaction of the genetic and nongenetic risk factors is important. Cystinosis is a recessive disorder caused by deposits of cystine within the lysosomes of cells-that is, sac-like cell parts that contain various enzymes. Involvement of the kidneys remains the primary characteristic, eventually leading to renal failure. Of all of the risk factors that make it easier for blood clotting, a high level of a substance called homocysteine is of particular interest. Too much homocysteine in blood plasma is a common finding in patients with kidney failure, and it has been recently identified as an independent risk factor for diseases of the blood vessels. Participants of all ages who meet the Dandy criteria for PTC may be eligible for this study. Pregnant women will be excluded. There will also be a control group of nephropathic cystinosis patients who do not have PTC. Participants will be asked to undergo the following tests and procedures: - Medical history. - Physical examination, to evaluate the eye and nervous systems. - Collection of blood for DNA and other tests. - Collection of cerebrospinal fluid, through a procedure called lumbar puncture or spinal tap. The evaluation of patients will generally last 3 to 4 days. For the collection of cerebrospinal fluid, the patient's skin on the back will be numbed with a local anesthetic. A special needle will be inserted into the back, and a small amount of the fluid will be drawn through the needle. There will be pain for a minute, although there can be a headache lasting 24 hours. Also, there may be bruising, local pain, bleeding, or infection where the needle enters. Patients may also have a magnetic resonance imaging scan of their head. During the MRI scan, patients will lie still on a table that slides in and out of a metal cylinder surrounded by a strong magnetic field. Patients will be able to communicate with the MRI staff at all times and may ask to be moved out of the machine at any time.

NCT00071903
Conditions
  1. Pseudotumor Cerebri
  2. Cystinosis
MeSH:Pseudotumor Cerebri Fanconi Syndrome Thrombosis Cystinosis Disease Susceptibility
HPO:Renal Fanconi syndrome

A total of 9 nephropathic cystinosis patients who developed PTC and 9 control nephropathic cystinosis patients without PTC will be screened based upon a thrombosis susceptibility screening panel, including total homocysteine, protein C and S, antithrombin III, fibrinogen, Factor VIII, Factor IX, Factor XI levels, testing for PT, PTT, activated protein C resistance, antiphospholipid antibodies (ACA panel and Lupus AC) and screening for FV Leiden mutation, FV G1628A polymorphism, FV R2 allele, Prothrombin 20210 mutation and 5,10-methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism in patients with severe homocysteinemia (greater than or equal to 100 micro mol/l). --- G1628A --- --- C677T ---


24 A Retrospective Cohort Study: The Influence of MTHFR C677T and A1298C on the High-dose Methotrexate-Related Toxicities in Pediatric Patients With Non-Hodgkin Lymphoma

We hypothesized that polymorphism MTHFR C677T and A1298C should be associated with HD-MTX-related toxicities in children with NHL. Therefore, we aimed to retrospectively explore their relationships in this analysis.

NCT04283955
Conditions
  1. Pediatric NHL
Interventions
  1. Drug: High-dose MTX based chemotherapy
MeSH:Lymphoma, Non-Hodgkin
HPO:Non-Hodgkin lymphoma

A Retrospective Cohort Study: The Influence of MTHFR C677T and A1298C on the High-dose Methotrexate-Related Toxicities in Pediatric Patients With Non-Hodgkin Lymphoma. --- C677T ---

A Retrospective Cohort Study: The Influence of MTHFR C677T and A1298C on the High-dose Methotrexate-Related Toxicities in Pediatric Patients With Non-Hodgkin Lymphoma We hypothesized that polymorphism MTHFR C677T and A1298C should be associated with HD-MTX-related toxicities in children with NHL. --- C677T ---

A Retrospective Cohort Study: The Influence of MTHFR C677T and A1298C on the High-dose Methotrexate-Related Toxicities in Pediatric Patients With Non-Hodgkin Lymphoma We hypothesized that polymorphism MTHFR C677T and A1298C should be associated with HD-MTX-related toxicities in children with NHL. --- C677T --- --- A1298C --- --- C677T ---

We recorded the toxicities that occurred to the patients after the MTX infusion, including hematological suppression, hepatotoxicity, nephrotoxicity, oral mucositis, vomiting and diarrhea.. Inclusion Criteria: patients who were: - Aged ≤ 18 years old; - Diagnosed as the four main types of NHL, including lymphoblastic lymphoma (LBL), Burkitt's lymphoma (BL), anaplastic large cell lymphoma (ALCL), diffuse large B-cell lymphoma (DLBCL); - Treated with HD-MTX therapy at the dose of 5g/m2; - Genotyped by PCR following Sanger with respect to MTHFR C677T and A1298C - With complete medical records. --- C677T ---

Exclusion Criteria: patients who were: - Aged >18 years old; - Diagnosed as cancer types other than the four main types of NHL; - Treated with no HD-MTX therapy or at the dose other than 5g/m2; - Not genotyped by PCR following Sanger with respect to MTHFR C677T and A1298C - With incomplete medical records . --- C677T ---

Inclusion Criteria: patients who were: - Aged ≤ 18 years old; - Diagnosed as the four main types of NHL, including lymphoblastic lymphoma (LBL), Burkitt's lymphoma (BL), anaplastic large cell lymphoma (ALCL), diffuse large B-cell lymphoma (DLBCL); - Treated with HD-MTX therapy at the dose of 5g/m2; - Genotyped by PCR following Sanger with respect to MTHFR C677T and A1298C - With complete medical records. --- C677T ---

The most two extensively studied SNPs of MTHFR in relation to the toxicities of MTX are the C677T variant (Ala222Val, rs1801133) and A1298C variant (Glu 429Ala, rs1801131), both dampening the enzyme activity by 40-70%. --- C677T ---

Therefore, the aim of this retrospective study was to evaluate the influence of C677T and A1298C polymorphisms on HD-MTX-related toxicities in children with NHL treated according to BFM-modified protocols. --- C677T ---

Primary Outcomes

Description: We recorded the toxicities that occurred to the patients after the MTX infusion, including hematological suppression, hepatotoxicity, nephrotoxicity, oral mucositis, vomiting and diarrhea.

Measure: Observations of HD-MTX-related toxicities

Time: 3 weeks

25 The Effect of Flaxseed Oil Supplementation on Biomarkers, Quality of Life and Cognitive Function in Hypertensive and Dyslipidemic Subjects With or Without the C677T and A1298C Polymorphisms in MTHFR Gene in Different Municipalities of Rio de Janeiro

The purpose of this study is to evaluate the effect of supplementation with flaxseed oil combined with a nutritional counseling in reducing cardiovascular risk factors in homocysteine , biomarkers of inflammation, oxidative stress, improving quality of life and cognitive decline in hypertensive and dyslipidemic genotyped for the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene.

NCT01604681
Conditions
  1. Hypertension
  2. Dyslipidemia
Interventions
  1. Dietary Supplement: Placebo
  2. Dietary Supplement: Flaxseed Oil
MeSH:Dyslipidemias
HPO:Abnormal circulating lipid concentration

The Effect of Flaxseed Oil Supplementation on Biomarkers, Quality of Life and Cognitive Function in Hypertensive and Dyslipidemic Subjects With or Without the C677T and A1298C Polymorphisms in MTHFR Gene in Different Municipalities of Rio de Janeiro. --- C677T ---

Supplementation With Flaxseed Oil in the State of Rio de Janeiro The purpose of this study is to evaluate the effect of supplementation with flaxseed oil combined with a nutritional counseling in reducing cardiovascular risk factors in homocysteine , biomarkers of inflammation, oxidative stress, improving quality of life and cognitive decline in hypertensive and dyslipidemic genotyped for the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene. --- C677T ---

To evaluate the effect of nutritional counseling associated with linseed oil supplementation on biomarkers estutados according to the C677T and A1298C polymorphisms of the MTHFR gene.. Cognitive decline. --- C677T ---

Our goal is to evaluate the effect of supplementation with flaxseed oil combined with nutritional counseling in reducing cardiovascular risk factors in homocysteine, biomarkers of inflammation, oxidative stress, improving quality of life and cognitive decline in hypertensive individuals dyslipidemic and genotyped for polymorphisms C677T and A1298C methylenetetrahydrofolate reductase gene (MTFHR). --- C677T ---

Will be collecting information on the socio-economic status of study participants through a structured questionnaire will be carried out assessment of food consumption - frequency of consumption and 24 hours, clinic - blood pressure, anthropometric - height, weight, waist circumference and BMI, body composition - bioelectrical impedance analysis, biochemical tests - lipid profile, blood glucose, insulin, homocysteine, serum folate concentrations in erythrocytes and, cobalamin, vitamin C, E and A, minerals - zinc, iron, copper and selenium, markers of oxidative stress and inflammatory response and molecular analysis - C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene. --- C677T ---

Our results demonstrate the effectiveness of supplementation with flaxseed oil, in reinforcing the results of nutritional counseling in reducing cardiovascular risk factors and biomarkers studied, besides adding to the knowledge about the interactions between markers of inflammation, oxidative stress with oil supplementation flaxseed and polymorphisms C677T and A1298C MTHFR gene, on which there are no reports in the literature. --- C677T ---

Primary Outcomes

Description: To evaluate the effect of nutritional counseling associated with linseed oil supplementation on biomarkers estutados according to the C677T and A1298C polymorphisms of the MTHFR gene.

Measure: Polymorphisms

Time: Up to 3 months

Secondary Outcomes

Description: To evaluate the effect of nutritional counseling associated with linseed oil supplementation on cognitive decline.

Measure: Cognitive decline

Time: Up to 3 months

Description: To evaluate the effect of nutritional counseling associated with linseed oil supplementation on Quality of life.

Measure: Quality of life

Time: Up to 3 months

Description: To evaluate the effect of nutritional counseling associated with linseed oil supplementation on biomarkers of oxidative stress.

Measure: Oxidative stress

Time: Up to 3 months

Description: To investigate the effect of supplementation of flaxseed oil combined with nutritional guidance on lipid profile, according to the consumption of saturated fat.

Measure: Lipid profile

Time: Up to 3 months

26 Clinical Applications of Advanced Ophthalmic Imaging

The purpose of this study is to determine the clinical application of advanced ophthalmic imaging devices such as optical coherence tomography (OCT), retinal function imager (RFI), slit-lamp biomicroscopy (SLB), PERG in diseased eyes and normal controls. There are two phases in this study. The first phase is an observational phase which studies the eye in various conditions. The second phase is an interventional phase which studies the changes in the eyes after taking an over-the-counter medical food (Ocufolin) for 6 months.

NCT03135327
Conditions
  1. Multiple Sclerosis
  2. Dry Eye Syndromes
  3. Diabetic Retinopathy
  4. Presbyopia
  5. Myopia
  6. Dementia
Interventions
  1. Dietary Supplement: Ocufolin
MeSH:Multiple Sclerosis Diabetic Retinopathy Dry Eye Syndromes Presbyopia
HPO:Keratoconjunctivitis sicca

Is at least 18 years old and has full legal capacity to volunteer; 2. Has read and signed the IRB Informed Consent Document; 3. Is willing and able to follow participant instructions; 4. Has clear corneas and crystalline lens; 5. Initial visual acuities were 20/80 or better; 6. MTHFR C677TT homozygous, or MTHFR C677T/A1298C compound heterozygous with mild to moderate micro-aneurismal vascular retinopathy disease; 7. Hemoglobin A1c is 10 or less; 8. Normotensive with or without medications; 9. Without retinal capillary dropout or macular edema; 10. --- C677T ---

Primary Outcomes

Description: Optical coherence tomography is used to measure the thickness of intraretinal layers. The measurement is in micrometer.

Measure: Retinal microstructure using OCT.

Time: up to 2 years

Description: Retinal vascular network density in percentage.

Measure: Retinal vasculature by optical coherence tomography angiography (OCTA)

Time: up to 2 years

Description: Conjunctival vascular network density in percentage.

Measure: Conjunctival vasculature by functional slit-lamp (FSLB)

Time: up to 2 years

Description: Measured in micrometers using ultra high resolution OCT

Measure: Corneal epithelial thickness

Time: up to 2 years

Description: Measured in micrometers using ultra high resolution OCT

Measure: Tear film thickness

Time: up to 2 years

Secondary Outcomes

Description: Retinal blood flow velocity in mm/s

Measure: Retinal blood flow velocity by retinal function imager (RFI)

Time: up to 2 years

Description: Conjunctival blood flow velocity in mm/s

Measure: Conjunctival blood flow velocity by functional slit-lamp (FSLB)

Time: up to 2 years

27 Weight Adjusted Low Molecular Weight Heparin in Recurrent Implantation Failure: a Randomized Open Labeled Trial

Prospective randomized study of patients with infertility candidates to Assisted ReproductiveTechniques (ART), screened for all inclusion and exclusion criteria, submitted to ART cycle with or without low molecular weight heparin (LMWH) administration. Aims of the study are to evaluate, primarily, pregnancy rate/embryo transfer, secondarily take home babies/embryo transfer, implantation rate, and the role of thrombophilic factors

NCT02991950
Conditions
  1. Infertility
  2. Low Molecular Weight Heparin
Interventions
  1. Drug: Parnaparin Sodium
MeSH:Infertility Body Weight
HPO:Infertility

All enrolled patients were previously screened for the presence or not of thrombophilic defects: protein C or protein S or AT deficiency, FV G1691A and FIIG20210A mutations, C677T MTHFR polymorphism,hyperhomocysteinemia, antiphospholipid antibodies. --- G1691A --- --- C677T ---

Primary Outcomes

Description: the investigators measured the pregnancy rate/embryo transfer using betaHcg dosage 12 days after embryo transfer

Measure: pregnancy rate/embryo transfer

Time: 12-14 days

Secondary Outcomes

Description: Live birth was defined as delivery of one or more live infants after 23 gestational weeks.

Measure: take home babies/embryo transfer

Time: 38-40 weeks after embryo transfer

Description: ultrasound was performed to evaluate implantation rate calculated as as number of gestational sacs divided by number of transferred embryos multiplied by 100

Measure: implantation rate

Time: 3 weeks

Description: All enrolled patients were previously screened for the presence or not of thrombophilic defects: protein C or protein S or AT deficiency, FV G1691A and FIIG20210A mutations, C677T MTHFR polymorphism,hyperhomocysteinemia, antiphospholipid antibodies. The investigators excluded from the enrollment patients with severe thrombophilia: protein C, protein S, AT deficiency or homozygous FV Leiden and FIIG20210A mutations or double heterozygosity for FV Leiden and FIIG20120 mutations because in this patients the international guide lines suggest and recommend the use of antithrombotic prophylaxis

Measure: role of thrombophilia in interfering with pregnancy rate/take home baby/implantation rate

Time: 12-14 days and 38-40 weeks and 3 weeks

28 Effect of Mild Increase in Folic Acid Intake on the Distribution of Folate Forms in Relation to a Common Polymorphism in One Folate Catabolising Enzyme

The common polymorphism in MTHFR gene (C677T) has a significant effect on (6S)-5-CH3-H4folate after folic acid supplementation. For example, post supplementation differences in (6S)-5-CH3-H4folate between CC and TT are above 30%.

NCT01105351
Conditions
  1. the Effect of MTHFR C677T on Folate Metabolism
Interventions
  1. Dietary Supplement: folic acid plus B6 and B12
  2. Dietary Supplement: folic acid

Effect of Folic Acid on Primary Folate Forms in Relation to MTHFR The common polymorphism in MTHFR gene (C677T) has a significant effect on (6S)-5-CH3-H4folate after folic acid supplementation. --- C677T ---

methotrexate) treatment - Ileum resection - Current B-vitamin supplement - Epilepsy medications - Megaloblastic anemia or other indications for treatment with high doses of folate or vitamin B12. the Effect of MTHFR C677T on Folate Metabolism The investigators aim to test the effect of low doses of folic acid with or without B6 and B12 on folate forms in relation to polymorphisms in folate catabolising enzymes in elderly people. --- C677T ---

Primary Outcomes

Description: we will measure primary folate forms after folic acid supplement

Measure: blood metabolic markers

Time: 18 months

29 Clinical Response and Homocysteine Reduction Using Reduced B-Vitamin Therapy in MTHFR C677T/A1298C Patients With Major Depressive Disorder : an Analysis of Findings

A randomized double-blind placebo controlled study of reduced B vitamins in patients with major depression who were positive for one or both of the common MTHFR polymorphisms was conducted between 8/1/2014 and 4/3/2015. Homocysteine levels and MADRS scores were used as primary measures. The study was designed to test safety and efficacy of reduced B vitamins in MDD associated with MTHFR. This study examines the data from the trial to see effects, effect sizes, and further, if demographic factors and other patient characteristics correlated with findings.

NCT02709668
Conditions
  1. Depression
Interventions
  1. Dietary Supplement: Enlyte
  2. Other: placebo
MeSH:Depression Depressive Disorder
HPO:Depressivity

Clinical Response and Homocysteine Reduction Using Reduced B-Vitamin Therapy in MTHFR C677T/A1298C Patients With Major Depressive Disorder : an Analysis of Findings. --- C677T ---

330 adult patients with MDD (DSM-5), and positive for MTHFR C677T and/or A1298C polymorphisms were enrolled in a trial conducted between August 1, 2014, and April 3, 2015. --- C677T ---

Primary Outcomes

Description: plasma homocysteine levels measured

Measure: Homocysteine levels

Time: baseline and week 8 of study

Secondary Outcomes

Description: standard measure of depression

Measure: Montgomery Asberg Depression Rating Scale

Time: baseline, week 2, week 8

30 Folic Acid Administration Reduces the Progression of Microalbuminuria

The development of diabetic nephropathy has been linked to several genetic polymorphisms, including those related with homocysteine metabolism such as the methylenetetrahydrofolate reductase (MTHFR)and the cystathionine-beta-synthase genes. Such alterations are associated with hyperhomocysteinemia, which is a known independent risk factor for the development of endothelial dysfunction and cardiovascular disease. In the Mexican population there is a high prevalence of the C677T MTHFR mutation. The investigators performed this study to evaluate the prevalence of this polymorphism in type 2 diabetic patients with diabetic nephropathy compared with type 2 diabetic patients without nephropathy, besides evaluating the relationship of hyperhomocysteinemia with endothelial dysfunction and microalbuminuria before and after the administration of folic acid. We proposed that the endothelial dysfunction caused by the hyperhomocysteinemia could be reversed after the administration of folic acid.

NCT00737126
Conditions
  1. Diabetic Nephropathies
  2. Hyperhomocysteinemia
Interventions
  1. Drug: Folic acid
  2. Drug: Placebo
MeSH:Kidney Diseases Diabetic Nephropathies Hyperhomocysteinemia
HPO:Abnormality of the kidney Nephropathy

In the Mexican population there is a high prevalence of the C677T MTHFR mutation. --- C677T ---

Primary Outcomes

Measure: Change in albumin excretion rate

Time: Four months

Secondary Outcomes

Measure: Change in serum homocysteine, thrombomodulin and von Willebrand factor.

Time: Four months.

31 Examining the Commonness of the C677T Mutation in the MTHFR Gene in Subjects With B12 Deficiency and the Influence of the B12 Deficiency Combined With the C677T Mutation on the MTHFR Gene on Endothelial Function.

The purpose of this study is to determine the commonness of the C677T mutation in the MTHFR gene in subjects with B12 deficiency. Also, we'd like to investigate the effect of B12 deficiency combined with the C677T mutation on endothelial function.

NCT00730574
Conditions
  1. B12 Deficiency Combined With C677T Mutation on MTHFR Gene
Interventions
  1. Dietary Supplement: Vitamin B12 + Folic Acid

Examining the Commonness of the C677T Mutation in the MTHFR Gene in Subjects With B12 Deficiency and the Influence of the B12 Deficiency Combined With the C677T Mutation on the MTHFR Gene on Endothelial Function.. Examining B12 Deficiency Associated With C677T Mutation on MTHFR Gene in Terms of Commonness and Endothelial Function The purpose of this study is to determine the commonness of the C677T mutation in the MTHFR gene in subjects with B12 deficiency. --- C677T ---

Examining the Commonness of the C677T Mutation in the MTHFR Gene in Subjects With B12 Deficiency and the Influence of the B12 Deficiency Combined With the C677T Mutation on the MTHFR Gene on Endothelial Function.. Examining B12 Deficiency Associated With C677T Mutation on MTHFR Gene in Terms of Commonness and Endothelial Function The purpose of this study is to determine the commonness of the C677T mutation in the MTHFR gene in subjects with B12 deficiency. --- C677T --- --- C677T ---

Examining the Commonness of the C677T Mutation in the MTHFR Gene in Subjects With B12 Deficiency and the Influence of the B12 Deficiency Combined With the C677T Mutation on the MTHFR Gene on Endothelial Function.. Examining B12 Deficiency Associated With C677T Mutation on MTHFR Gene in Terms of Commonness and Endothelial Function The purpose of this study is to determine the commonness of the C677T mutation in the MTHFR gene in subjects with B12 deficiency. --- C677T --- --- C677T --- --- C677T ---

Examining the Commonness of the C677T Mutation in the MTHFR Gene in Subjects With B12 Deficiency and the Influence of the B12 Deficiency Combined With the C677T Mutation on the MTHFR Gene on Endothelial Function.. Examining B12 Deficiency Associated With C677T Mutation on MTHFR Gene in Terms of Commonness and Endothelial Function The purpose of this study is to determine the commonness of the C677T mutation in the MTHFR gene in subjects with B12 deficiency. --- C677T --- --- C677T --- --- C677T --- --- C677T ---

Also, we'd like to investigate the effect of B12 deficiency combined with the C677T mutation on endothelial function. --- C677T ---

The primary measure to determine the effect of the treatment will be reduced levels of Homocysteine in subjects with B12 deficiency combined with C677T mutation in the MTHFR gene.. null. --- C677T ---

Inclusion Criteria: 1. adult males and females of the broad population aged 20-60 2. with no symptomatic heart disease/condition 3. with Vitamin B12 levels of 150 pmol or less 4. which have not received Vitamin B12 supplement treatment before Exclusion Criteria: 1. Adults suffering from a known heart disease/condition 2. any disease the investigator might find as interfering with the process of the experiment 3. tumor-oriented diseases Inclusion Criteria: 1. adult males and females of the broad population aged 20-60 2. with no symptomatic heart disease/condition 3. with Vitamin B12 levels of 150 pmol or less 4. which have not received Vitamin B12 supplement treatment before Exclusion Criteria: 1. Adults suffering from a known heart disease/condition 2. any disease the investigator might find as interfering with the process of the experiment 3. tumor-oriented diseases B12 Deficiency Combined With C677T Mutation on MTHFR Gene we showed that patiebts with B12 deficiency have higher than expected frequency of MTHFR mutation and patients with both abnormalities havean abnormal endothelial function --- C677T ---

Primary Outcomes

Measure: The primary measure to determine the effect of the treatment will be reduced levels of Homocysteine in subjects with B12 deficiency combined with C677T mutation in the MTHFR gene.

Time: The key measure would be measured upon enrollment and 6 weeks afterwards, upon completion of treatment based on 1mg Vitamin B12 sublinual and 5 mg Folic Acid per day.

32 Pilot Evaluation of the Effect of Riboflavin Supplementation on Blood Pressure and Possible Effect Modification by the MTHFR C677T Genotype

Hypertension, which results from a combination of multiple lifestyle and genetic factors, is a global public health problem affecting 1 billion people worldwide. The identification of cheap treatment interventions without adverse side effects would be hugely advantageous particularly in low-income settings with high prevalence of hypertension such as sub-Saharan Africa where up to 46% of adults are affected. Emerging evidence links a functional polymorphism in the MTHFR gene (rs1801133 C677T), encoding the folate-metabolising enzyme methylenetetrahydrofolate reductase to high blood pressure in adults. Variation at rs1801133 is relatively common and has 3 genotypes; homozygous "normal" CC, heterozygous CT and homozygous "variant" TT genotypes. Of these genotypes, the homozygous "variant" TT is more strongly associated with a higher BP. The precise mechanism by which MTHFR is associated with BP remains unclear. It has been recently shown in 3 separate randomized controlled trials that BP is highly responsive to riboflavin and that this response is differential by MTHFR rs1801133 genotype. In all these clinical trials, significant reduction in both systolic and diastolic blood pressure was observed in the homozygous variant TT genotype and an intermediate effect seen in those with the heterozygous CT genotype. The aim of this study is to evaluate the effect of riboflavin supplementation on blood pressure in a riboflavin-deplete population as well as comparing plasma riboflavin status before and after supplementation. This will be achieved by conducting a randomized single-blind placebo controlled trial over a period of 16 weeks. The Investigators will use the Keneba biobank to invite about 100 adults with the CT genotype and a similar number of age-, sex and village-matched CC homozygotes. Participants within each of the groups will be randomized to receive either riboflavin (5mg/d) or a matching placebo which would be supplied on a weekly basis. Blood sample, blood pressure measurement, socio-demographic data and their anthropometric measurements (height, weight, waist and hip circumference and body composition by BIA) will be taken during the initial visit. An additional blood sample will be taken at the end of the study whilst additional BP measurements will be taken respectively at 8 weeks and at the end of the intervention. The possibility that riboflavin deficiency represents a new, easily-correctible causal factor in hypertension in sub-Saharan Africa would require further large-scale interventions if this pilot study yields encouraging results.

NCT03151096
Conditions
  1. High Blood Pressure
  2. MTHFR C677T Genotype
Interventions
  1. Dietary Supplement: Riboflavin
  2. Dietary Supplement: Placebo
MeSH:Hypertension
HPO:Hypertension

Pilot Evaluation of the Effect of Riboflavin Supplementation on Blood Pressure and Possible Effect Modification by the MTHFR C677T Genotype. --- C677T ---

Pilot Evaluation of the Effect of Riboflavin Supplementation on Blood Pressure and Possible Effect Modification by the MTHFR C677T Genotype Hypertension, which results from a combination of multiple lifestyle and genetic factors, is a global public health problem affecting 1 billion people worldwide. --- C677T ---

Emerging evidence links a functional polymorphism in the MTHFR gene (rs1801133 C677T), encoding the folate-metabolising enzyme methylenetetrahydrofolate reductase to high blood pressure in adults. --- C677T ---

- Has available genotype data in the Keneba biobank needed for the current study - Available for the duration of the intervention period Exclusion Criteria: Taking vitamin B/multivitamin supplements - Ongoing pregnancy as confirmed by participant - History of digestive, hepatic, renal or hematological disorders, dementia - Epilepsy or taking anti-epileptic medications - Glucose-6-phosphate dehydrogenase (G6PD) deficiency High Blood Pressure MTHFR C677T Genotype Hypertension This is a recall-by-genotype randomized single-blind placebo-controlled micronutrient supplementation trial. --- C677T ---

The Keneba biobank will be used to identify all potential participants i.e. individuals genotyped for MTHFR C677T for this pilot study. --- C677T ---

Primary Outcomes

Description: The aim of this study is to investigate whether supplementing 5mg of riboflavin can decrease blood pressure more effectively compared with placebo

Measure: Blood Pressure

Time: 16 weeks

Description: We will compare EGRAC in those who were randomised to riboflavin supplementation versus placebo

Measure: Erythrocyte Glutathione Reductase Activation Coefficient (indicator of riboflavin status)

Time: 16 weeks

Secondary Outcomes

Description: We would like to investigate if there is any effect modification in CC vs CT variants of rs1801133 in the MTHFR gene in response to riboflavin supplementation vs placebo

Measure: Blood pressure

Time: 16 weeks

Description: We aim to describe the cross-sectional associations at baseline between blood pressure (continuous variable and proportion >140/90mm) and riboflavin status (assessed by the Erythrocyte Glutathione Reductase Activation Coefficient) and MTHFR variants

Measure: Blood pressure and plasma riboflavin status

Time: 16 weeks

33 Evaluation of the Efficacy and Safety of the EVE- Skin-Test Panel in Detecting Sensitivity to Sex Hormones in Women With Unexplained Recurrent Pregnancy Loss

The EVE- technology is intended for determination of intolerance or sensitivity to female sex hormones among women with hormone-related conditions and for further treatment by desensitization procedure inducing a tolerance to the hormones the women are sensitive to. This study is designed to evaluate the safety and the ability of the EVE- Skin-Test Panel to detect sensitivity to female sex hormones in subjects with Unexplained Recurrent Pregnancy Loss (URPL) and in Control parous, healthy women. The Skin Test Panel includes four female hormones and three control solutions. Hormones from the Skin Test Panel are injected intradermally during the luteal phase of the subject's menstrual cycle. The skin reactions are examined by physician for erythema and wheal after 20 minutes and 48 hours and self-assessed by the patient daily for the following month. Skin response monthly data is analyzed and compared between unexplained recurrent pregnancy loss (UPRL) and healthy groups. Following achievement of the significant differences between both groups the immune profile of the healthy and UPRL subjects will be investigated.

NCT01175759
Conditions
  1. Abortion, Recurrent
Interventions
  1. Drug: Skin test panel
  2. Drug: Skin test panel
MeSH:Abortion, Habitual Hypersensitivity
HPO:Allergy

4. Severe allergies or an inflammatory illness at the time of enrollment For healthy group: 1. Women who are pregnant or lactating on the day of screening 2. Abnormal routine blood tests For UPRL: 1. Hereditary thrombophilias (Factor V Leiden, Activated protein C resistance, MTHFR (C677T), Factor II mutation (G20201A)) 2. One or more abnormal test from the list below: 1. Karyotype of either parent (normal: 46XX or 46XY) 2. Glucose tolerance test (This can be altered to fasting blood sugar of 100mg/dl or less); 3. Toxoplasmosis serology (IgM positive); 4. Hysterosalpingogram, 3-D ultrasound or hysteroscopy, thereby excluding anatomical abnormalities, intrauterine adhesions and cervical incompetence; 5. Thyroid function (Euthyroid levels;); 6. Serum prolactin; 7. Normal luteal phase of at least 12 days and plasma progesterone above 24 ng/lL 8. Anti nuclear factor (Negative) 9. Anticardiolipin antibody by Elisa testing (cut off value <13 GPLu/mL and <7.6 MPLu/mlL) and Lupus anticoagulant (according to Kaolin clotting time (KCT), Russell's viper venom tome (RVVT) or APTT. --- C677T ---

Primary Outcomes

Measure: Number of subjects with positive wheal responses to the Skin Test Panel in URPL and Control groups

Time: 1 month

Secondary Outcomes

Measure: Frequency and severity of adverse events following a skin test procedure in subjects from URPL and Control groups

Time: 1 month

Measure: Measurement of cytokine production in subjects from UPRL and Control groups

Time: 1 month

34 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients

A randomized prospective study was done to determine whether i.v. 5-methyltetrahydrofolate vs oral folate improved survival in ESRD patients. Homocysteine, CRP, Lp(a), albumin, folates, vitamin B6 and B12 were checked. The 5-MTHF treated group was associated with lowered C reactive protein and higher survival than the folate treated group.

NCT00626223
Conditions
  1. Mortality
  2. Hyperhomocysteinemia
  3. Inflammation
Interventions
  1. Drug: 5-MTHF (5-methyltetrahydrofolate)
  2. Drug: folic acid
MeSH:Hyperhomocysteinemia Inflamm Inflammation

Gene polymorphisms analysis on C677T and A1298C loci and differences in polymorphisms distribution in both groups. --- C677T ---

Primary Outcomes

Measure: survival

Time: 55 months

Secondary Outcomes

Measure: Risk factors for cardiovascular disease in ESRD patients

Time: 55 months

Measure: Homocysteine levels after 6, 12, 24 and 55 months

Time: 55 months

Measure: CRP levels after 6, 12, 24 and 55 months

Time: 55 months

Measure: Gene polymorphisms analysis on C677T and A1298C loci and differences in polymorphisms distribution in both groups

Time: basal

Measure: Differences at baseline between the groups concerning age, dialysis age, CRP, albumin, haemoglobin, Lp(a), homocysteine, folate, B6 and B12 baseline levels

Time: basal

35 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
Conditions
  1. Portal Hypertension
Interventions
  1. 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 --- --- C677T ---

Primary Outcomes

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

Time: 1 year


HPO Nodes


HP:0000822: Hypertension
Genes 424
MAT2A WT1 LMNA HGD FN1 TRNL1 SERPINA6 YY1AP1 TRNK BBIP1 GTF2IRD1 TRNC KCNJ5 CLCN2 MGP TGFBR2 BBS1 CYP11B2 RET ARVCF KCNJ5 EGFR OSGEP SH2B3 TRNS2 SLC2A10 NKX2-5 LMNA RREB1 IFT172 LZTFL1 ND1 FBN1 FMO3 HLA-DPA1 GUCY1A1 APOB SCNN1G CEP164 BBS10 FUZ SDHB MUC1 REST ABCC6 TTC8 CLIP2 H19 ELN FGFR2 GATA5 PKD1 NF1 NPHP1 KCTD1 WNK4 HIRA GP1BB GNAS IRF5 EDA2R LMX1B NFU1 PLIN1 MEN1 SEC24C ELN GNAS COL3A1 NPHP1 SLC37A4 ERCC8 HLA-DPB1 NOTCH1 CFHR1 THSD1 SDCCAG8 DLST PKHD1 PPOX ACTN4 DNMT3A NOD2 SCNN1B C8ORF37 ECE1 XYLT1 ACTA2 GDNF CTLA4 PAM16 EPAS1 BBS4 ARL6 CCR6 DNAJB11 CDH23 ENPP1 WT1 DIS3L2 PKD2 MFAP5 GLA PKD2 NPHP1 TRNW NF1 IFT27 BANF1 CFI LMNA WNK1 WT1 ARHGAP31 SMARCAL1 FGFR2 STAT2 ACVRL1 CEP290 ADA2 NF1 SDHAF2 ENPP1 PRKAR1A IQCB1 PRTN3 TET2 SMAD6 XYLT2 NOD2 SDHD HPSE2 MYH11 SDHD COX1 PDE8B CAV1 C3 SMAD4 SCNN1G ELP1 USP8 EXT2 USP8 KIF1B SLC25A11 FBN1 CBS WDPCP BBS9 BRCC3 ACAT1 SPRY2 TRNF STAT1 SUGCT ELP1 SCNN1A GPR101 PPARG ZMPSTE24 MAX LRIG2 TRNS1 GJA1 ERCC8 BSCL2 CYP11B1 NPHP3 TRNE FIG4 CCND1 CD2AP KCTD1 TRAF3IP1 TRNK GBA TGFB2 CYTB HMBS GLA TRIM32 EDA SDHC TNFRSF11A LDLRAP1 MMP2 XPNPEP3 PKD1 KIF1B ABCC6 TRIM28 SDHB SDCCAG8 ALMS1 MAFB FN1 PTPN22 ACP5 ERCC4 LEMD3 CYP11B1 BBS7 SDHB LDLR SCNN1A NPHP4 KRT18 HSD11B2 CDKN1B CCN2 CUL3 GANAB PDE3A VANGL1 TSC2 ACTA2 PCSK9 CEP19 CFB SMAD4 MTTP COL4A5 LYZ FOXE3 IDS PRKG1 SLC37A4 PHF21A GUCY1A1 B2M RET INVS KCNJ5 PPARG WRN PLIN1 BMPR2 CDKN2C MMP14 VHL POU6F2 ELN COL4A3 CPOX ABCB6 CDH23 LMX1B THBD KIF1B SLC2A10 PDE11A JMJD1C CYP17A1 TRNK TBX1 IL12B COQ7 TBL2 TBX1 WDR19 LRP6 FMR1 SDHD CORIN RFC2 CACNA1H CYP11B1 MKKS ADA2 LIMK1 NOTCH3 MKS1 FLT1 BBS1 CACNA1D YY1AP1 CDKN2B ND6 LMNA MLX VAC14 PKHD1 TRIP13 PDE11A MEF2A IDS TRIM28 NDUFAF6 NOS3 TRNQ SDHB SDHC STOX1 SMAD3 ALX4 APRT LOX OFD1 IDUA TMEM127 COL3A1 AIP FBN1 LMNA CFH WT1 VHL NR3C1 CYP17A1 TSC1 ALMS1 SMAD4 POU3F4 FGA HMBS TP53 HBB ARMC5 BRCA2 SDHA CACNA1D ABCG5 RET UFD1 TREX1 NOTCH2 ABCC6 G6PC1 ARMC5 SCNN1B CCDC28B GTF2I JAK2 KLHL3 BBS5 MYH7 ERCC6 APOA1 TRNV TMEM127 TGFBR1 GNAS FBN1 ARL6 GCH1 COX2 MDH2 NFIX OFD1 AIP COL4A3 WDR35 ENG MAX CFHR3 TMEM70 NSMCE2 LARS2 LEMD3 ND5 CYP21A2 NR3C1 DZIP1L BNC2 VHL BICC1 ERCC6 PRKACA MC4R PRKACA ADA2 CYP11B1 INF2 HLA-DRB1 MYLK TGFB3 MTRR MYMK POR COL4A4 JAK2 SDHD SCN2B CEP290 ITGA8 FH DYRK1B TRPC6 HLA-B PRKAR1A MLXIPL BBS12 MDM2 MPL TMEM237 VHL BBS2 PDE3A NR3C2 KRT8 GPC3 PRKAR1A BAZ1B ERCC4 VHL TGFBR3 CDKN1A COMT WT1 SLC25A11 RET COX3 AIP ABCG8 HSD11B2 GANAB TMEM67 CD46 ADAMTSL4 TNFRSF11B ANGPTL6 INVS TRNL1
HP:0000077: Abnormality of the kidney
Genes 1801
SH2B1 SMARCB1 IGF2 RPS7 SLC34A1 WT1 TRNK B3GLCT MITF NDUFS4 ALG9 MME KAT6B OFD1 CEP164 CRB2 FREM1 NTRK1 ARVCF RPS15A ND1 WDR11 ANTXR1 RREB1 LETM1 GNA11 IFT172 NPHP3 MAFB MET ANTXR1 PEX11B PAX4 APOB ZIC3 STK11 BUB1B SNAI2 FLRT3 DYNC2H1 MCC CEP290 KCTD1 BRIP1 BRAF SEC24C FGFR3 TBC1D20 PEX13 SLC37A4 PIGA TSC1 FANCG FOXF1 NDUFV2 ADAMTSL1 ENPP1 EVC2 DLST CRB2 ADGRG2 COQ8B ACTN4 DNMT3A PC FLNB ITGA8 NOD2 EFEMP2 C8ORF37 WASHC5 KRAS XYLT1 CYB561 KMT2A BMPER CLCNKA PIGT PRKCD SUFU PTCH1 KIF14 CCR6 DNAJB11 HOXD13 IGF2 CLCN5 TRRAP PLAGL1 PALB2 RRM2B IFT27 INTS1 PEX19 MAP2K2 WT1 PPP1R15B AMMECR1 HNF4A ADA2 MED25 ERCC8 FANCL RAB23 ALDOB TKT VPS33A KIAA0753 HRAS NUP160 PIK3CA DLL4 F8 TBX15 MVK GALNT3 KIAA0753 PREPL SCO2 CAV1 PUF60 RYR1 CCBE1 ELP1 NLRP3 FANCF PIK3CA WDPCP APPL1 ND4 RPS19 PNKP IFT80 CPT1A PEX1 IGF2 FLI1 MBTPS2 DGKE IFT140 HOGA1 DSTYK PEX12 NPHP4 PRKCSH TCTN3 SOX10 TRNN NOTCH3 SLC5A2 DICER1 CFTR CCBE1 NDUFB11 SLC6A19 KYNU CD2AP NADSYN1 UMPS CDC42 HMBS ALG8 BRAF SC5D TMEM216 MCFD2 SCARB2 CREBBP TMEM107 PTPRO XPNPEP3 NOTCH2 ABCC6 PORCN CEP57 PEX10 PIK3R2 CEP41 RAD21 RERE FLNA CASK TCTN3 PTPN22 TRNS2 CDON EDNRB TIMMDC1 PPM1B STRA6 LRIG2 SIK1 RPS19 IL12A-AS1 CIT CDKN1B CCN2 TSC2 TRIM32 GPKOW ARL6 WDR73 TCTN2 PCSK9 CIT PHYH DSE PEX1 DHODH DYNC2H1 NSUN2 RET IFT80 FGFR3 MKS1 DYNC2LI1 NPHP3 WFS1 VHL POU6F2 EBP PMM2 COL4A3 MNX1 TP63 RPGRIP1L SLC29A3 THBD BAX CLCN5 RAG2 SPOP PGM3 MMUT FANCE TP53 SDR9C7 SHANK3 MYOD1 NDUFS6 TRNK ZEB2 AGTR1 GRHPR ATRX ENG CCNQ SLC34A1 COLEC11 MDM2 SLC22A12 LAMC2 NPHS2 GREB1L IL17F VAMP7 MKKS FANCC PYGL BLK ZNF592 ITGA3 CAMKMT PIGL MKS1 COQ2 ATP7B RNU4ATAC TASP1 SAA1 TBC1D24 TTC37 LTBP4 IL17RA MCTP2 ATN1 NPHP1 TAF13 PDGFRB PUF60 NDUFAF6 FOXI1 SLC4A1 IQSEC2 SDHB APC GLMN HYMAI TMEM216 CISD2 BUB1B GDF2 BUB1B TNXB NDUFA1 RAD54B NEU1 BSCL2 NPHS1 CDKN1B KANK2 AURKA PRKAR1A APRT YWHAE FLCN COX3 IFT43 CC2D2A USF3 FGFR2 TREX1 ACVRL1 FLNA CC2D2A ZFPM2 XDH WAC ITGA6 STRA6 NDUFAF3 IL17RD FANCB ANLN SLC1A1 ROBO2 ETFB RNU4ATAC SIX5 GLI2 CLCNKB OGG1 PAX6 CCDC141 SLC2A2 RPL31 FH RPGRIP1L AQP2 HNF1A COL4A1 SIX1 ABCC8 BRCA2 BSND NDUFAF2 CCDC22 COL4A3 PTCH1 CFI STAT3 TMEM67 C1QBP COQ6 TREX1 ARMC5 SLC26A1 KAT6B MEFV GNA11 HOGA1 TMEM126B IRAK1 REN FUT8 PEX12 PLCD1 GP1BB MDH2 HNRNPK FREM2 PIGY SLC34A3 MAX NSDHL SERPINH1 EYA1 HSPA9 PROK2 SETD2 SLITRK6 SMARCD1 TELO2 F10 DZIP1L SOX17 PDGFRL NUP107 TP53RK CDC73 RIPK4 BCS1L TSR2 PYCR2 BMPER CTNS PML LAGE3 CPT2 SOX9 TMEM67 CHD7 CEP290 FH SDCCAG8 ATRX FOXC2 RBM10 GDF6 MAP3K1 CC2D2A BBS12 MDM2 CASR RFWD3 OPLAH VHL H19 SDHD SLC12A1 NUP133 WFS1 GPC3 ALG9 NUP93 CYP11B2 FANCB IL2RG OSTM1 SLC17A5 ABCG8 ETFA TMEM231 ROR2 GP1BA SMAD4 KDM6A CDK5RAP2 HPSE2 INVS LEMD3 MYLK NXN UBR1 PGAM2 NODAL ND6 CSPP1 BBIP1 DHCR7 GSN KCNJ5 ARID2 BBS1 ASXL1 FGFR1 ARX NDUFAF3 TBX18 HNF4A GPC4 RAB3GAP2 GRHPR DNA2 AGT CACNA1S TMEM231 SOX4 NFIA CEP63 FGFR2 BCOR BBS10 CD81 FUZ TMEM67 OCRL CRTAP PEX13 B3GLCT ABCC6 TRIP13 ABCC8 BMP4 CPLANE1 CYBC1 ELN FANCD2 NPHP1 REST ACE CLEC7A RTL1 GP1BB TP53 GLI3 FRAS1 DIS3L2 PMM2 INSL3 WT1 TGM1 CCNQ PTEN ARID1B AGGF1 NPHP1 ARL3 NDUFAF5 SLX4 RPL27 SEC23B UMOD PPOX KRT17 SLC3A1 CA2 CC2D2A AP2S1 CEP83 STAT5B WNT4 CREBBP FAM20C SOX9 BBS4 SLC7A7 BCS1L GCM2 CD46 DIS3L2 KNSTRN GRIP1 FANCD2 PTPN22 COL4A4 TMEM67 KIF14 IL7R GPC4 H19-ICR SMARCAL1 RMND1 PUS3 G6PC3 MARS1 CEP290 NDUFB10 FREM2 PEX26 TPRKB SPRY4 PEX19 CLDN19 ENPP1 MED25 NCAPG2 SEMA3E IQCB1 PRTN3 ARID1A XYLT2 C1QB HPSE2 GP1BB TRNS1 FCGR2B SDHD NRIP1 SALL4 SI MOCS1 DSTYK NADK2 FANCI ZAP70 ALDOB LMNA ND2 ALOX12B ND5 C3 TMEM260 BBIP1 USP8 DPH1 USP8 MASP1 SALL4 PEX3 IL6 C4A TRNQ COLEC10 GCK RAI1 GATM SON AGXT SBDS TBC1D24 PEX1 CHRM3 DMXL2 NPHP3 TRNE PRMT7 KIF14 SMARCA4 DHCR7 MMACHC KITLG KIAA0586 SDHB TRIM32 AMER1 GBA SPP1 KIF7 MKKS PTPN22 FOXP3 FGFR2 AKT1 SDHB TRNF TMEM138 SDCCAG8 CDKN1C CDC73 IFT43 KANSL1 HBB COL4A1 SLC4A1 FN1 ACP5 FANCB AFF4 SDHB ZFP57 CLDN10 TMEM231 OFD1 KLHL7 NPHP4 PTPN11 RPL26 COG1 PHGDH ACTG1 KDM6A CDC73 STRADA PTPN12 NUP133 MLH3 FBLN5 MSH6 LAMB2 TMEM107 PEX16 NIPBL HABP2 CD109 TRNL1 CHD7 PRODH SLC37A4 CFI LRP2 PHF21A NPHP4 ZIC2 SOX18 FAM20A DYNC2LI1 COL14A1 INSR CDKN2C PIGN ND2 ADAT3 WWOX EIF2AK3 CPOX RPS17 APC2 DHX37 NSMF GLIS2 TBX1 NSD1 PIEZO2 LMNB2 DYNC2I1 CREBBP TMEM237 PDE6D TMEM231 TBX1 ATRX PGAP3 IL10 MLH1 MAGED2 GCK EHMT1 CTNS SDHD PRCC FLNB STRADA FOXP1 BCOR TMCO1 NDUFS1 PPP2R3C APOE PEX5 PDHA1 FH CLCNKB BBS1 MYH9 SLC2A9 MYO1E FAM149B1 CCND1 ALG8 HESX1 AVPR2 TGIF1 NEUROD2 MBTPS2 TRAF3IP2 TBX1 TRIM28 WDPCP KISS1R SSR4 PIGP HNRNPU TRNS1 CEP152 CCND1 STIL HAAO MAP2K1 MKKS LMAN1 SC5D ADCY10 AFF4 TFAP2A IL23R COX2 COQ2 FBXW11 OFD1 INS TSC2 RAI1 MYH11 ITPR3 PROKR2 GBE1 FGF10 PLA2G2A AMMECR1 ATP1A1 LMNA POGZ ENPP1 TCTN3 WDR62 CLCN5 GLI3 SREBF1 ITGA2B SMARCE1 ALMS1 GCM2 POU3F4 SEMA3A FGA RPGRIP1L H19-ICR LIPT2 CFH CDKN1C SDHA CACNA1D WAS CASR GNB1 LAGE3 F2 MOCS2 EHMT1 DYRK1A FAS WDR35 HPS1 G6PC1 CCDC28B GTF2I SCN2A GPC3 PDE6D TPRKB ATP6V0A4 DMRT3 APOA1 SMARCAL1 NEK8 IFIH1 TMEM127 KCNJ11 CLPB EP300 OSGEP SETD5 AHI1 CSPP1 CCR1 UQCC2 MINPP1 PLEC POR OFD1 WNT4 WDR35 FAS MKS1 RAD51 DUSP6 TRNT1 MMUT HYLS1 MKKS NPHP1 XRCC2 NRAS VHL GREB1L ERAP1 ERCC6 INF2 SLC3A1 KEAP1 SLC25A22 PGK1 MYMK RFWD3 COL4A4 MBTPS2 CEP290 GPC4 ITGA8 HPRT1 CDKN1B KLRC4 C4A TRPC6 DNASE1 CA2 PREPL DICER1 PLCE1 MMP1 PROKR2 MLXIPL VIPAS39 PIGN STX3 HLA-DRB1 WDR19 TMEM237 ANOS1 MEG3 APOE GNAO1 HELLPAR FLCN WT1 GPR35 BAZ1B CDKN1A ALG1 WT1 GRIA3 MID1 GP1BA NIPAL4 AKT1 KCNAB2 CENPJ CTNS CEL TRNL1 LCAT KMT2D FIBP UBR1 KCNA1 FEZF1 COL7A1 HSPG2 IARS1 TFE3 GTF2IRD1 PIGY CDK6 SPINK5 SOX9 PGAP2 PUF60 STAG1 CCND2 FANCM CTNS NOTCH2 PACS1 NELFA NAA10 KCNJ11 PIK3C2A GLI1 PAX2 FXYD2 PIK3CD HNF1B USP9X TCF4 WDR35 SHPK HLA-DPA1 SETBP1 WT1 CEP164 PIEZO2 SLC30A9 CYP27A1 ARHGDIA WAS NLRP3 TP63 TBX3 NF1 RARA RPL26 TREX1 DDX59 KLF11 LMNB2 COL3A1 CD96 ERCC8 HLA-DPB1 GLIS3 PEX2 CFHR1 BRF1 LIPN SLC25A20 DICER1 HRAS CASP10 TSC1 SIX5 NIPBL NEUROD1 WDR19 CEP290 ATP7A TRNW B4GAT1 GDNF CTLA4 EPAS1 ADAMTS3 SPECC1L BLM PKD2 PPP3CA TTC21B PKD2 PDX1 NPHP1 FKTN ADA2 KCNJ1 FGFR1 POU6F2 CFI SNRPB MYOCD GATA4 TMEM70 FLNA STAT2 ARL6IP6 FAH PYGM RASA1 NEK1 FAN1 NR0B1 LIG4 NF1 NF1 UMOD SLC7A9 RPL35 SRY SDHAF2 FAS TAPT1 TMEM216 SDHD ZNF687 SLC35A2 SLC4A4 MSH2 CTLA4 DZIP1L ESCO2 FOXE1 LRP5 TRIM37 EXT2 ITGA2B KIF1B KMT2A ITGB3 STXBP1 SLC9A3R1 PAX1 BBS9 SERPINF2 ATP6V1B1 SPRY2 STAT1 FGF8 ELP1 SCNN1A SNRPN RMRP LMX1B MAX LRIG2 GATA3 KCNJ10 LDHA CYP4F22 ERCC8 MEFV WT1 WT1 NDUFAF8 CCND1 KCNQ1OT1 FANCC SKIV2L PHEX FANCI NRAS SDHC LDLRAP1 PEX6 SALL4 SLC36A2 TRIM28 MFSD2A TBX22 PIGV ALMS1 FGF8 CPLANE1 GPC3 WNT5A B9D1 MAFB DHDDS DACT1 MDM2 LEMD3 FGF20 BBS7 DDX6 PQBP1 HNF4A LDLR DVL1 DNASE1L3 RASGRP1 CHD7 CCDC141 FANCA TRAPPC14 DMP1 PCK2 KLLN B9D1 IARS1 KNL1 HNF1A GAS1 KCNQ1OT1 MGME1 TTC21B HIC1 APC CWC27 IL12A PTPRJ MMUT CHRM3 CLDN16 SF3B4 PEX7 IL17RC CFB COL4A5 LYZ SLC26A4 CD96 CILK1 ACP5 DNAJC21 MYCN BRAF DDX59 PAH WRN RBM8A NDUFB9 RPS26 PIGA CDH23 SCARB2 HPRT1 PIGL PEX10 WDR73 MSH3 C1QA JAK1 RET RAI1 SULT2B1 JMJD1C BUB1 PALB2 COQ7 OCLN GEMIN4 ETFDH TBX1 WDR19 PIGT ZAP70 IFT172 FKRP CORIN PTPN22 HPRT1 GCDH LIMK1 HMGA2 ASPM KRAS FGF23 EP300 SPART BRCA2 NDUFA6 CDC42 CDKL5 RPS10 RPGRIP1L NDUFS2 PIGO STAT4 MAP3K7 VAC14 PKHD1 ND3 TMEM216 RBBP8 CD151 GNB1 SOX10 BRCA2 ARX ZMIZ1 NUP107 WDR4 HNRNPK RAF1 FASLG ATRX TNXB SMARCC2 CFH DEAF1 C3 TXNL4A INTU STAT3 PLG ESCO2 LONP1 TMEM126B PIGV BCOR TMEM127 LPIN2 KYNU NUP205 SLC12A3 ADA SETBP1 CFH FIBP HLA-B HDAC4 SLX4 TSC1 PIGQ RECQL4 LEMD3 TBC1D8B PKDCC FGFR2 RPS26 MEFV NEK8 GABRD IRF2BP2 EHMT1 ABCG5 TRIM8 DCC WNT4 RPL5 WNT4 RPS27 SURF1 TFAP2A RPS24 VPS33B RPL35A RET UFD1 SHH HNF1B APRT HNF4A DHX16 NOTCH2 UBE2T SRP54 SCNN1B DKC1 SHANK3 BBS5 SF3B4 LAMB3 SMS ERCC6 KCNQ1 GLI3 SLC6A20 KANSL1 EIF2AK3 RAB18 FBN1 ARL6 BBS4 FGFR1 YAP1 RAI1 NDUFS2 SALL1 STXBP1 CPT1A ZEB2 SMC1A NDUFAF4 ERCC4 ERBB3 INPP5E SIX3 OCRL CTU2 ADCY10 CENPF AR CDC73 SMC3 PDX1 FLNA GATA1 DIS3L2 WDR19 APOL1 INF2 HLA-DRB1 CPT2 DPH1 DLC1 CEP290 H19-ICR SARS2 MTRR TCN2 HDAC8 TBL1XR1 EYA1 BUB3 RAD51C AQP2 ITGB3 NSD1 SLC6A17 TRIP13 FAM20A KMT2C AIRE NARS2 LIG4 AMMECR1 POLE BBS2 REN ABCC8 FANCA IGF2 VHL EXTL3 KCNE5 COMT KAT6A AIP KCNJ10 TP53 PDSS2 LARGE1 FCGR2A CYTB SALL1 CLDN19 BTNL2 WNT3 CYP24A1 LHX1 ALOXE3 PIGN VHL BAP1 VDR PAFAH1B1 HGD FN1 FAT4 YY1AP1 NPM1 ZBTB16 FREM1 EPG5 INSR ERCC6 MCM5 ARID1B OSGEP CDKN2A LAMA3 ANKLE2 SPECC1L IKZF1 SHH RORA LMNA YY1 PIK3C2A AKT1 LMBRD1 IFT172 PDSS2 IFT140 LZTFL1 COPA MYO5B SRY SNRPB SEC63 PTEN DYNC2I1 CTNNB1 CASR SCNN1G ZNF423 RAD51C DLL1 PRDX1 SDHB ABCA12 MUC1 REST KYNU TTC8 CLIP2 H19 PKD1 RSPO2 HIRA DYNC2LI1 GNAS IRF5 LMX1B MEN1 COX1 HSD17B4 PEX3 ELN CEP135 TMEM67 MYD88 CLCNKB BUB1 RPL11 PORCN ACTB CFHR5 SOX11 FOXP3 H19 WDR19 USP9X ND4 SDCCAG8 PKHD1 TTR SON KLLN MAFB RPL11 CHEK2 SCNN1B PAX2 HNF1B PCK1 IFT122 AKT3 PTPN11 MEOX1 CPT2 ARL6 PEX2 MRPS22 FAT4 TTC37 DACT1 WT1 TDGF1 GLA RPL15 NF1 DYNC2I2 CHST14 TRNV MEN1 FLNA SLC12A3 TMEM67 OCRL BBS10 MAGI2 CASR NDUFA11 NDUFS3 GSN ALDH18A1 ARX MEFV NOD2 SERPINA1 FRAS1 MYCN NBN TRNH AAGAB RAG1 RNF139 CEP55 AGXT NUP85 FGF17 SASS6 SLC7A7 UMOD RARB JAM3 ND1 KMT2D TBCK WDR73 NPHP3 FOXRED1 MICOS13 CSPP1 TMEM216 CASP10 DCHS1 GATA3 DLK1 DCHS1 ZEB2 CHN1 PIK3R2 RPL18 CHRNA3 PGK1 KCNH1 EYA1 LMOD1 FGFR3 PHC1 ADA FIG4 XRCC4 TLR2 FLNA KCTD1 ND3 TRAF3IP1 TTC21B SMO NUMA1 TMEM231 GLA FANCL FBXL4 GDF3 ROR2 NSD2 NUP107 HS6ST1 DPF2 ITGA2 CEP290 FLNA PKD1 CHD4 ZIC3 FLCN SLC3A1 ERCC4 CDK4 POLR3A AGPAT2 PIGW SMOC1 ACTG2 ND1 FOXH1 COG7 STS MOCOS PRKCD SLC34A1 BICC1 PEX7 NDUFAF3 GP9 DYNC2I2 RBM10 KCNJ11 DISP1 GANAB TACR3 VANGL1 NR5A1 TRIP11 TSC2 PEX14 WDR19 KANSL1 IFNG PHYH HNF1B HOXA13 RPS28 NLRP3 NABP1 B2M FLCN PLVAP DYRK1A ARNT2 RAD21 INVS HMOX1 ADAMTS13 MCPH1 AXIN2 LMX1B ITGB4 GBA ZNF423 CEP120 KIF1B CTH PIGL NDUFS8 NDUFB8 PBX1 TOR1A B9D2 TBL2 EVC SDCCAG8 FANCE WIPF1 CEP120 RFC2 NPHP3 CAD SGPL1 PAX7 BBS12 HNF1A NPHP1 WDR4 FLT1 TRNT PPP2R1A SURF1 B9D2 BRCA1 LRP4 CACNA1D SRCAP CDKN2B SIX1 LRP5 IQCB1 MAPKBP1 TRIP13 YAP1 MST1 ANKS6 SEMA3E MMACHC LPIN1 PRPS1 PIK3CA SMC1A WNT3 AVPR2 PLG TRAF3IP1 COG6 PRDM16 FGFR2 STOX1 LAMB2 C8ORF37 NDUFS7 TALDO1 NUBPL DYNC2H1 RPGRIP1 APC CLCN5 EXT2 ALX4 NDUFB3 NUP133 GPC3 HMGA2 LRP4 RERE MAD2L2 DCDC2 PNPLA6 SKI TMEM237 PIK3CA POR PGM3 DCC WT1 VHL PIK3CA TRNW POMT2 RTTN PLD1 F5 FOXF1 CHST14 SDHC DCLRE1C TLR4 WT1 RAB3GAP1 FANCB B3GALT6 SF3B4 HBB F8 FGFR3 ZNF148 ANOS1 COPB2 NDUFV1 ABCC6 PEX6 STAT4 LMX1B FAT4 HPRT1 METTL5 COX14 UBAC2 THOC6 PAX2 COL4A3 TTC8 SCN1B TMEM138 CHD7 RBM8A NCAPD3 CFHR3 PLCD1 POMT1 PRKCSH BNC2 ALPL SNAP29 BICC1 RECQL4 THOC6 TRNL1 PEX5 SRC CEP55 IFT27 PRPS1 JAG1 GDF6 EMP2 FIP1L1 TP53RK FLCN ND5 APC NDNF AVIL ACSL4 NPHS1 NAA10 ND6 EP300 LZTFL1 CTNNB1 PTH1R INPP5E MAP3K7 RPS29 DYNC2I2 ACTG2 ERCC4 DNASE1L3 NDUFAF1 C1QC SEC61A1 SLC25A11 GNAS RET FLII CPT2 ATP6 DHCR24 HSD11B2 WASHC5 COA8 TCTN2 GANAB TMEM67 CD46 VPS33A NEU1 PIGQ ITGB4 INS HLA-B
Protein Mutations 4
C282T C677T K55R Y93H
HP:0001903: Anemia
Genes 774
LCAT KMT2D RPS7 TNFSF11 GSS PET100 COL7A1 GATA1 EPB41 TERT NHLRC2 NTRK1 FANCM RPS15A PTF1A NLRP3 MALT1 HPGD FMO3 SHPK PSAP TERT HBB RPL15 STK11 AK1 WAS SDHA TARS1 PKLR TTC7A HBA1 PHGDH RARA ALAS2 BRIP1 RPL26 FDX2 CD81 PNPO UROS SLC19A2 ATRX ERCC8 FANCG TET2 GP1BA TERC RPL35 CFHR1 SURF1 ALAD CASP10 EPHB4 ACTN4 LMBRD1 ABCB7 NOD2 CPOX TRNW VPS45 SPTB PHGDH PRKCD KCNE1 EPO FOXP1 TINF2 ADA2 PHKG2 CFI USB1 AMN NLRP3 SPTB NDUFAF6 STAT2 CR2 ACVRL1 AMMECR1 STX11 MEFV LIG4 THRA TSR2 RPL35 SBDS FANCL FAS TCIRG1 CALR SLC25A10 COX10 HBA1 SLC2A1 VPS33A HMGCL COX15 MDM4 SLC4A1 CTLA4 FLI1 MMADHC HBA2 TINF2 SCO2 CASK TFRC HBA2 EXT2 NLRP3 FANCF MTRR ND4 RPS19 STAT1 PLEKHM1 DGKE RPS28 RMRP IFT140 UQCRFS1 NPHP4 BMPR1A TRNN SLC19A3 BTK PSMB9 STIM1 UMPS SMAD4 ITGB3 FANCC SMAD4 ISCU STAT1 SNX10 TERT FANCI FAS NDUFS2 SCARB2 HBB MMAA GPX1 FARS2 GALNT2 CP ECHS1 SBDS RFXAP TTC7A RAG1 UROS TRNS2 NLRP1 RASGRP1 ATRX FANCA ABCD4 MARS1 RPS19 HBB ENG TYMP DHFR GPI LPIN2 KIF23 RPS24 NPM1 SLC2A1 TACO1 IFNG ANK1 AASS CTLA4 MMUT RPS29 KLF1 CFB UMPS MYSM1 ERBB3 NSUN2 FERMT1 DNAJC21 UROD HBA2 LYRM7 RPS10 ELANE WFS1 RPS26 EWSR1 PIGA ABCB6 HPRT1 FANCF HBG2 SLC29A3 THBD RAG2 SLC46A1 PGM3 MMUT FANCE COL7A1 PALB2 PNP IL12B MYSM1 SPTA1 ATRX FASLG COX4I2 RFXANK PIEZO1 EPB41 GBA ENG SPTA1 MPLKIP PARN LAMC2 RAG2 TPI1 FECH ALAS2 GNA14 FANCC CD59 PEPD RPL5 ZBTB24 IDH1 ATP7B CLCN7 GCLC IL2RB FARSA RPS10 STAT4 SPTA1 MLX KRAS KLF1 HBB TBCE BRCA2 SPTB RNF113A FASLG DNAJC19 GATB PNPO BRCA1 CISD2 GSS GDF2 HAVCR2 CFH STAT3 SRD5A3 NDUFA2 PRKAR1A IDH2 SNX10 COX3 CD3G NDUFV2 CTSK TREX1 ACVRL1 TFR2 MTTP NBN NRAS LPIN2 CLCN7 SLC12A3 ADA NDUFAF3 NDUFAF2 CFH CRIPT FANCB STAT3 HLA-B SLX4 CLCNKB SLC25A13 DNMT3B TCN2 RPL31 YARS2 RPS26 ORAI1 IRF2BP2 ASXL1 SAMD9 RPL5 RPS27 CD247 SURF1 RPS24 RPL35A FTCD TREX1 ASAH1 UBE2T SRP54 GBA DKC1 TCIRG1 ITGA2B LAMB3 MMAB HBB NFKB1 IRAK1 RECQL4 RPL27 DNAJC19 TALDO1 STEAP3 UNC13D LAMB3 NDUFS2 NFKB2 PHKA2 ANK1 HBD LAT HELLS PCCB MTHFD1 KCNN4 ERCC4 LARS2 OCRL DKC1 GATA1 POLG RHAG ADA2 BPGM TSR2 TET2 PML SARS2 MTRR BMPR1A GYPC HBA2 CP COL4A1 TBL1XR1 EFL1 TERC ATRX TF BMPR1A LIG4 PARN ATP7B PFKM REN DCLRE1C WFS1 FANCA ACAD8 NHP2 FANCB PRKCD PLA2G4A IL2RG OSTM1 PTH1R GCLC SMPD1 SLC4A1 RHAG WT1 LIPA RAG2 CLPX SDHC FCGR2A SMAD4 KDM6A BTNL2 IRX5 PSMB4 FANCG UBR1 ND6 MS4A1 G6PD GATA1 NPM1 ZBTB16 ERCC6L2 TINF2 COL7A1 BMPR1A RPS27 PUS1 IFNG KIT RRM2B LAMA3 IKZF1 ABCG8 LMBRD1 TF HBB HBG1 GALT GATA1 CASR RAD51C PRDX1 MUC1 PLEKHM1 MTR IGH CYBC1 ITGB4 FANCD2 RAG1 PRKACG EPB42 TCIRG1 COX1 FERMT3 MYD88 AGGF1 NPHP1 RPL11 NT5C3A RIPK1 KCNN4 MPL SLC40A1 SLX4 FOXP3 RPL27 CBL PPOX CA2 RPL11 GREM1 STAT5B STXBP2 GLRX5 TET2 SLC7A7 STK11 PCCA CD46 SMAD4 DAXX ABCB7 PACS2 RPS15A GLA HBA2 SF3B1 RPL15 TERT FANCD2 PTPN22 IL7R FECH SMARCAL1 HBB KIT G6PC3 TMEM67 DNAJC21 IL2RA CTC1 GSR SLC35C1 PNP SP110 EPB42 SLC4A1 NDUFA12 NBN TRNS1 FCGR2B TRNH RAG1 AGXT ACD TGFB1 ZAP70 C3 IFNGR1 SLC7A7 DNM1L NFKB1 LAMA3 RMRP HBB ND1 ABCA1 SLC19A2 TKFC STING1 RPS14 CASP10 TNFRSF13C RPS17 TBXAS1 RPL18 TRNQ MECOM PGK1 SBDS TNFSF11 PDGFRA CAT KIF15 ADA XRCC4 BCL10 TNFAIP3 PRF1 GBA SLC4A1 NUMA1 PDHA1 JAK2 TNFRSF11A GLA FANCL CD40LG LARS1 MMACHC SLC25A38 CUBN TMPRSS6 GBA MPIG6B SPP1 ELMO2 FOXP3 STIM1 RPL35A KIF1B SDHA TRNF TPP2 RAG1 NDUFV1 HMGCL HBB RPL18 SLC4A1 HBB-LCR ACP5 SPTB NDUFA13 MMP1 NDUFA4 ATRX PCNT PRKCD RPS7 RPL26 COG1 RMRP PIEZO1 PLEC ABCA1 NHEJ1 ABCD3 ANAPC1 SPTA1 FAM111A TNFSF12 DBH NDUFS3 LIPT1 RPS28 RAC2 SLCO2A1 SLC25A21 SDHB CHD7 NABP1 TNFRSF4 CFI PHF21A NPHP4 TRNT1 SRP54 HBB LYST HMOX1 APOA1 ADAMTS13 NDUFA10 GATA1 HSPA9 RPS17 GBA ENG PFKM FAM111A DDX41 CLCN7 YARS2 COL7A1 NDUFB8 RHAG NDUFS7 HYOU1 TNFSF12 TOR1A ZBTB20 SLC4A1 NDUFS8 ATP11C FANCE WIPF1 TGFB1 NDUFAF5 PSTPIP1 BCOR CAD SAMD9L TRNW MAD2L2 NPHP1 CD19 SURF1 TP53 LAMC2 SMARCD2 BRCA1 MPL PSMB8 GATC CCND1 CLCN7 MMACHC KRT14 ALDOA SRSF2 ALG8 NOP10 TRNS1 FOXRED1 OPA1 ETV6 HK1 TALDO1 ERCC2 COX2 COQ2 TEK STEAP3 TERC ALX4 RPS14 RTEL1 RASGRP1 HBB MAD2L2 GATA1 PGM3 CDCA7 PUS1 SEC23B SAMD9L HBA1 SLC46A1 MTFMT ICOS COL17A1 PIGT RFX5 DCLRE1C HBG2 CDAN1 IREB2 CDIN1 HBB TNFRSF13B F8 TET2 HAMP WAS F2 WRAP53 HBG1 NDUFS1 FAS TET2 KCNQ1 STIM1 ADAR PTEN SMARCAL1 SRD5A3 GTF2H5 TERT RUNX1 HPRT1 CIITA SLC11A2 PLEC BIRC3 SPTA1 EFL1 TBXAS1 RBM8A NLRC4 CFHR3 RAD51 PRF1 TRNT1 QRSL1 NDUFA9 HBA1 ALPL XRCC2 CBLIF GATA1 ITK ERCC6 PKLR FARSB TRNL1 CTC1 ANK1 LYST GBA ACVR1 PGK1 FIP1L1 ALAS2 RFWD3 ND5 APC DNASE1 CA2 HLA-B MMP1 NDUFS4 HLA-DRB1 AK2 CD55 DKC1 RPS29 SFXN4 HELLPAR LRBA GTF2E2 ERCC4 HBA1 UBE2T SEC61A1 ERCC3 RTEL1 COA8 CD46 VPS33A ITGB4 MVK
Protein Mutations 4
C282Y C677T H63D V617F
HP:0000716: Depressivity
Genes 461
EZR TGIF1 ND6 PROK2 COL7A1 NODAL TOR1A CACNA1G VPS35 NSUN2 GTF2IRD1 SLC20A2 CHD7 COL7A1 TACR3 SHH ST3GAL3 ARVCF NR4A2 CEP85L RREB1 AARS2 GNA11 ATXN10 FMO3 TCF4 POLG ATXN8OS AIMP1 C9ORF72 LRRK2 PSAP FGF8 CYP27A1 DCTN1 GAS1 GBA TGFBR2 PODXL FOXH1 CLIP2 VPS13C TBK1 HIRA CC2D1A GP1BB GNAS PDGFRB VAPB ABCA7 MEN1 COX1 DLL1 HARS1 SEC24C SIX3 GABRG2 ELN PIK3CA PAH POLG GNAS TWNK GNRH1 THOC2 MBOAT7 VCP PMS2 FOXH1 SLC6A4 GABRG2 POLG PDGFB CBL CDON AP2S1 GAS1 MAPT TARDBP TRNW TMEM106B MATR3 TTC19 DNAJC5 TRNL1 BCS1L CBS FRRS1L KRAS JRK GLA CDON PDGFRB SHH DISP1 PRPH ZIC2 AMACR DISP1 SLC25A4 MAN1B1 DNA2 GBA GSN FOXH1 GNRHR TDGF1 KDM5B FAN1 ADH1C VPS13A XK CEP78 TRNS1 GLI2 FGF8 TRNH ATP13A2 NEFH CSF1R COASY FMR1 ATXN8 ATXN2 FGFR1 ARSA CLCN4 USP8 TRNS2 TBC1D7 ND1 ND4 HTR2A DISP1 PANK2 STAG2 CCNF GPR101 SIX3 TRNQ PRNP ZC3H14 DCPS CISD2 HTT HNMT SLC2A3 MSH6 USH1C DNMT1 VCP ZIC2 CACNA1H MSTO1 C9ORF72 KCNJ2 HMBS MSH2 MED23 FGF8 KCNT1 PER2 SHH USH2A USH1G DRD2 PTPN22 NODAL ERBB4 PPT1 PTCH1 DAO ZIC2 TRNF CDH23 THOC2 MED25 HTT DLL1 LINS1 WASHC4 TRNS2 TUSC3 TET3 PLA2G6 MYO7A CDON CHCHD10 PSEN1 EPM2A PINK1 ARSG EPHA4 CHCHD10 CHMP2B ANOS1 CDKN1B PDZD7 MAN2B1 PTCH1 SLC45A1 DNAJC6 GLI2 PER3 ATXN10 TAF15 ADGRV1 SNCA HLA-DQB1 SLC2A1 FGF8 C19ORF12 TSC2 PRKN OPTN POLG2 MAPK1 CARS1 POLG WDR11 PDCD1 FGFR1 PPP2R2B PCDH15 FLT4 TECR SGCE DNAJC13 COQ2 B3GALNT2 RPS20 GLE1 SQSTM1 SPRY4 CACNA1G FA2H CDKN2C NHLRC1 SNCA UNC13A DGUOK CPOX TBK1 CDH23 FGF14 PFN1 PRNP MAPT CLRN1 JMJD1C RSRC1 TBX1 FBXO31 PTS EPCAM PON2 TNIK TBL2 TBX1 PDGFRB ATRX TAC3 PANK2 TARDBP FMR1 EHMT1 PRNP CLIP1 RFC2 DCTN1 SARS1 TRAPPC9 FGF14 SNCA RRM2B LIMK1 KISS1 NOTCH3 XPR1 FIG4 TWNK SIX3 CRBN GLI2 SMPD1 HLA-DQB1 CRKL PMS1 CDKN2B HTRA2 SPAST HS6ST1 PDE11A C9ORF72 MST1 SLC18A2 FGFR1 RPS6KA3 WFS1 CDON DNMT1 SRSF2 LMNB1 PRSS12 GABRB3 EDC3 POLG TRNS1 ZIC2 CLCN4 KCTD17 GBA TK2 CFAP410 MLH1 VCP COX2 GABRA1 FOXH1 PARK7 SYNJ1 COX3 EIF4G1 PON1 HNRNPA1 LRRK2 IDUA FGF8 GRIK2 POLG PRKCG NDST1 TGIF1 DUSP6 ATXN2 RRM2B SMC1A WFS1 PRNP TDGF1 TSC1 STX16 GIGYF2 ATP1A3 PTCH1 ATP1A3 HMBS GLI2 ARMC5 KCTD17 SEMA4A GLUD2 GAS1 HTT TET2 TBP GAS1 ASXL1 DMPK CASR PDGFB PRNP CIB2 UFD1 COQ2 TGIF1 GLT8D1 TREX1 VCP ARMC5 GTF2I MECP2 TWNK KISS1R LMAN2L GRIN2A PTCH1 RUNX1 ANG PIGC NSMF GNAS TWNK TDGF1 ANXA11 SGCE GCH1 FUS AIP TGIF1 BMPR1A UBQLN2 CTSF OCRL PON3 CHMP2B METTL23 ESPN CLN6 TDGF1 TRNL2 IQSEC1 TRNL1 PRKACA PRNP C9ORF72 DLL1 GRN PGAP1 GDAP2 TRNN SHH MSTO1 SIX3 SNCAIP MLH3 ND5 SRPX2 STAG2 NEK1 WHRN TBP TREM2 GNAS MMP1 C12ORF4 FMN2 PPARGC1A SQSTM1 HLA-DRB1 PINK1 ATP7B TREM2 BCR TOR1A SOD1 C9ORF72 NODAL GNAS DCTN1 PRKAR1A AFG3L2 GPR35 BAZ1B DLL1 PLA2G6 CDKN1A MAN2B1 COMT CRADD PROKR2 MAPT FUS MYO7A JPH3 NODAL FGF17 PAH UCHL1 DISP1 ATXN8OS
HP:0003119: Abnormal circulating lipid concentration
Genes 313
PSMB4 LCAT SLC37A4 BSCL2 ATAD3A UBR1 FLCN PEX3 LDLRAP1 PEX6 COL7A1 TBL1X PLVAP CAV1 SLC25A13 DHCR7 PPARG GTF2IRD1 CAVIN1 PIK3R5 MYO5A PLIN1 TRNE COL7A1 CAVIN1 RTL1 APOA1 DLK1 LEP CYP7A1 EBP PEX7 PMM2 NGLY1 LDLR CIDEC LIPE APOC3 GPD1 UCP2 SLC29A3 LMNA ABCG8 DCAF17 SPIB LMBRD1 RSPO1 ABCG5 ZMPSTE24 KCNJ11 CPT2 TRNK AEBP1 TMEM43 LEPR APOB TBL2 SYNE1 PIGT ALB LRP6 CYP27A1 PEX12 EBP RTL1 ABCA1 CTNS PNPLA2 MTTP CLIP2 APOB RFC2 LMNA NPHS2 FECH PNLIP SGPL1 PYGL LMNA LMNA LIMK1 CCT5 PEX5 CYP27A1 IL12A HSD3B7 PLIN1 APOB EMD PEX10 SMPD1 NADK2 ELN BSCL2 PSMB8 LMNB2 FARSA SLC37A4 TANGO2 AKT2 GHR DLD ACOX2 LMNA CFHR1 SLC25A20 APOC2 LPL MEF2A LIPE NUP107 TNPO3 ACTN4 PANK2 PEX16 CCDC115 MEG3 IQSEC2 GHR STXBP2 NSMCE2 CETP AGL SAR1B LMAN1 HAVCR2 PLA2G7 DEAF1 CPT2 BSCL2 NPHS1 GK GLA ABCA1 CAV1 GPIHBP1 KCNJ1 PHKG2 PHKA2 APOA2 RAI1 AGL PEX12 PPP1R17 HADH ACAD9 MEG3 STX11 ACAD8 HNF4A TRMU MTTP CETP IL12RB1 OCRL GYS2 XRCC4 APOA5 PEX19 LMNA CFH ACADVL PEX2 PEX10 TFG HMGCL SLC25A13 ALMS1 SLC25A13 APTX APOA5 ABCD1 PHKG2 NADK2 LMNA AGPAT2 LMNA DCAF17 MSMO1 LMNA ABCG5 SLC7A7 DMPK PIGH PEX26 PNPLA2 FHL1 SMPD1 TMEM199 ACADVL G6PC1 ABCA1 GTF2I CPT1A LIPA PCSK9 TDP1 ACADM PPARG RAI1 ANGPTL3 HNF1A LBR FBN1 UNC13D SCO1 SLC2A3 RAI1 PEX13 BSCL2 LIPC PHKA2 ADCY3 CAV3 TRNE CPT1A XRCC4 NSDHL LIPA CFHR3 PSMB9 PRF1 POLD1 APOC3 POLR3A NSMCE2 OCRL DHCR7 MMACHC DHCR24 ABCC8 SC5D CAV1 NPC1 POU2AF1 NUP107 SLC22A5 PEX19 MCFD2 RAB27A ALB MC4R LDLRAP1 PEX5 TDP1 CPT2 LYST JAG1 TNFSF15 TBCK SLC25A13 GALNT2 LMNA PEX5 NPC2 CIDEC ALMS1 HTT LPL SETX CYP11A1 ABCA2 DYRK1B XIAP CYP11A1 FOS ACADM PEX14 CYP19A1 MMP1 DLK1 ZMPSTE24 POLR3A AGPAT2 LCAT LDLR MMEL1 EPHX2 COG4 PEX11B SLC12A1 APOE PPARG ABHD5 AR ACAD8 LCAT ABCA1 PEX2 BAZ1B TTPA PLA2G4A TANGO2 LTC4S FLII PEX1 FDFT1 SLC52A1 CPT2 SYNE2 ABCG8 PCSK9 CEP19 PEX7 IRF5 PHYH SAR1B DGAT1 PYGL ABCD1 PEX1 TRNL1 UBE3B
HP:0000365: Hearing impairment
Genes 2232
MERTK SMARCB1 COL2A1 TRNK ALDH18A1 TIMM8A B3GLCT DNAAF1 MITF NDUFS4 TCOF1 TRNC MYO7A KAT6B BRAF EFTUD2 ARVCF ND1 WDR11 RREB1 TOPORS RRM2B TUBB4A LETM1 ITM2B MAFB PAX3 ELMO2 ANTXR1 PEX11B PEX6 SPATA5 EFTUD2 DNAH11 SLC44A4 RPS6KA3 GJB6 LRAT POLG CDC45 BUB1B DMD ERCC5 SNAI2 FLRT3 RDX FOXH1 PEX11B ESPN ANKRD11 TARS1 PEX1 RAF1 SPATA5 DNAH1 BRIP1 VPS13B PIK3R1 BRAF SEC24C FGFR3 CDK8 DSG2 MECOM RLBP1 SMCHD1 TULP1 ZIC1 TCAP TWNK PGAP2 PIGA FGFR3 PEX10 FANCG FOXC1 NDUFV2 GMPPA WAC GNS SRP72 ADAMTSL1 ENPP1 DLST FLNB DNMT3A SIN3A C8ORF37 P2RX2 MYH6 CNOT2 GJA1 GJB2 CLCNKA SLC25A24 TTC19 KCNE1 SPATA7 SLC10A7 TRRAP ATRX PLAGL1 CFAP300 ARL3 IFT27 BDP1 CBL PEX19 ASPM SMC3 ABCC1 PEX26 SQSTM1 PPP1R15B PEX12 SPOP AMMECR1 SDHA GRXCR1 ERCC8 SOX3 FANCL NDUFB11 CPLX1 ALOXE3 SNAI2 RAB23 PRPH2 PSAP PEX16 SLC25A10 COX10 TKT SEMA3D GJA1 GLI2 ODAD4 MAF PCDH15 FMR1 KIAA0753 SCO2 SOX2 ATP8 SLC26A2 COL11A2 CCBE1 TAF1 NLRP3 BTD FANCF COL11A1 WDPCP MPZL2 ND4 PEX1 SLC29A3 IMPDH1 FGFR3 DISP1 DHDDS GNAI3 KRAS HARS2 TBC1D24 SIX3 AP1S2 COL1A2 PEX7 RPE65 SOX10 TRNN SLC19A3 MORC2 GLI3 BTK USH1C GJB2 PEX13 RSPH1 CCBE1 NDUFB11 FOXC1 ZIC2 WDFY3 KYNU COL11A1 CDC42 GJA1 TRNK ERCC2 SNX10 FLNA CATSPER2 ACY1 FKBP14 REST FGF8 DMXL2 BRAF TCOF1 SC5D SHH CNTNAP1 DES CREBBP XPNPEP3 PNPT1 NEXN NODAL NOTCH2 SKI PORCN CEP57 GALNT2 CDH23 RAD21 ECHS1 IDUA USH2A DLL1 GJB6 RERE GJB2 TCTN3 PTPN22 TRNS2 FGFR3 EDNRB TIMMDC1 SOS1 ARSG TNNC1 TYMP MAP3K7 NARS2 MYO6 NPM1 DGUOK FRG1 NDUFS4 WAC TACO1 EYS IRF6 CNKSR2 GDNF EDC3 SLC18A3 PHYH MYSM1 DSE USP9X PEX1 DHODH TRNI CHSY1 RPGR NSUN2 TCF20 DNAL1 GALC RUNX2 DHX38 PSAP FGFR3 TMIE DSPP WFS1 TRNL1 CLPP VHL EBP EDN1 AIFM1 PRCD COL4A3 SYT2 BRAF PRPH2 TP63 TWIST2 GBA2 CHSY1 EYA4 FBN1 OPA1 SLC29A3 CNTNAP2 ACVR1 AIPL1 CTSA PGM3 FANCE SHANK3 DLX5 NDUFS6 TRNK PNP EDN3 XPA NEK1 BCAP31 COL2A1 ATRX ODAD2 HCCS GBA SUFU DNAI1 LOXL3 PLN PPP1R15B PSMD12 COLEC11 WFS1 TP63 FGFR2 MKKS SPIDR FANCC LMNA MED12 TWNK MKS1 ABCA4 GLI2 RFC1 NEU1 MGAT2 NRTN TASP1 KIZ RAB3GAP2 TNC COL1A2 MCTP2 FGFR1 ODAD3 TK2 SYP ATN1 PSMC3IP NDUFA9 PEX16 PEX10 SOX10 FOXI1 IQSEC2 GATB SDHB DDX11 LRRC32 HYMAI CISD2 PEX13 NDUFA1 STAC3 NEU1 PTPRQ CDH1 FOXH1 KCNJ10 NDUFA2 DNMT3B NOG PTPN11 EDN1 COX3 BEAN1 NDUFV2 USF3 GNPTAB FGFR2 FLNA OTX2 PLXND1 WAC NDUFAF3 NDUFAF2 IL17RD FANCB PCYT1A PEX2 PEX10 SIX5 PUS7 BAG3 LRP4 ERCC6 PIGB SMAD4 SURF1 CCDC141 AHI1 RPL10 SIX1 ABCC8 TPM2 ATP2B2 BSND GAS1 NDUFAF2 PSAP ERCC5 SLC33A1 CEACAM16 COLEC11 STAT3 C1QBP COQ6 SLC29A3 VCP KAT6B DNAAF2 POMK STRC KDM3B PI4KA RDH12 GJB2 TMEM126B ERAL1 GRAP PEX12 SBF2 ALOX12B GP1BB MDH2 MSL3 UBE2A FUS HNRNPK FREM2 TGIF1 IDS CATSPER2 NSDHL BPNT2 EYA1 MTHFD1 PROK2 ALX3 SETD2 SLITRK6 SMARCD1 SOX2 ND5 DMP1 TELO2 SLC52A3 PMP22 TDGF1 PDK3 CA4 POLG PEX5 FRG1 BCS1L WNT5A SIX3 GTF2E2 RGR SOX9 BMP2 COL9A1 CHD7 POLR1C ZNF462 PRRT2 TNFRSF11A GPC4 FH ATRX RPE65 RBM10 FGFR2 GDF6 GLB1 ORC1 BBS12 TCF12 SCN1A MYH3 PARN VHL RPGRIP1 PEX11B SDHD DVL3 NAXD DAB1 WFS1 NRL NHP2 GPRASP2 PRPS1 ZMYND10 DMXL2 KRAS LRP5 CACNA1D NTNG1 MYO7A GFER SDHB MITF BCS1L NODAL ROR2 TNFRSF11B GP1BA KDM6A SEMA3C EDN3 TRNS1 IRX5 PCNA BNC1 NXN UBR1 ND6 PEX6 CSPP1 TRNL1 NODAL LRRC56 BBIP1 DHCR7 GIPC3 TRAPPC4 ZNF711 NDE1 SLC7A14 RP1 HOXA11 PHF6 TACR3 ARID2 BBS1 SDHD ASXL1 CNGB1 RRM2B ZNF408 TRNS2 NOG DCAF17 TRNP PEX3 GJB2 FZD2 BTK GATA1 CTBP1 MCIDAS SNX14 ARX HUWE1 SOX4 SAG RAC1 TMC1 IL17RD ERCC6 ANKH FGFR2 LRP5 BCOR BBS10 HSPD1 PSAP FGF8 PEX13 GAS1 B3GLCT PTPRQ BMP4 CPLANE1 ELN FANCD2 FGFR2 MYT1L PIK3R1 GP1BB TCIRG1 FRAS1 ATP1A3 DLL1 GJB6 FUCA1 SPAG1 ARID1B EYA4 NLRP12 NDUFAF5 PRDM5 ORC4 COL11A1 ARSG SLX4 ABCA12 SOX10 SEC23B TRNS1 CDON TRPV3 SUMF1 GDI1 EYA1 TWIST2 PTCHD1 LOXHD1 COL2A1 STXBP2 CREBBP TBL1XR1 FAM20C SOX9 STK36 BBS4 GJB6 GJA1 BCS1L IFT88 TRNF NDUFB11 TWIST2 EDNRB PLA2G6 PHOX2B KMT2E MYBPC3 SLC5A7 RPGR GRIP1 CERT1 FANCD2 TMEM67 FAT4 TECTA SPTLC1 FLRT3 RMND1 PUS3 ZIC2 G6PC3 MFN2 GUCY2D NDUFB10 DNAJC21 PEX26 COL27A1 FGF3 TPRKB GFER DISP1 HYDIN MYH9 SPRY4 ERF PNPT1 FOXH1 FLNA KCNC3 SEMA3E PDZD7 PRTN3 ARID1A NAGA MED13 CEP78 TRNS1 FLNB WBP2 GMPPA ABCD1 ATP1A2 RRAS SALL4 TTC8 PDGFRB FANCI DDR2 ZNF81 ND2 ND5 RPS6KA3 ILDR1 PRDM5 FGFRL1 HOXA2 RNASET2 MASP1 UGT1A1 SALL4 WDR37 NEDD4L PEX3 CTNND1 TRNF TMEM126A CDC45 ACO2 GRHL2 TRNQ DNAJC21 COLEC10 ZMPSTE24 RAI1 VPS37A ADCY1 DNAI2 TRNS1 TBC1D24 PEX1 SPATA7 DNMT1 EPRS1 SMPX TRNE PRMT7 ERCC2 COL11A1 SLC26A5 ARHGEF18 SMARCA4 LMX1A SUMF1 GUSB DHCR7 SLC17A8 KITLG SDHB TRIM32 USH2A AMER1 KIF7 OTOGL NOP56 MYH3 KCNJ13 FGFR3 PTPN22 CEP57 TRNK FGFR2 AKT1 TRNF THOC2 SDCCAG8 ZNF469 WHRN CHST3 KANSL1 PITX2 PEX16 TBL1XR1 AFF4 BTK SDHB ZFP57 CARS2 ERCC1 PLAA PCNT OFD1 PRPF8 KLHL7 MRPS22 CDON CHCHD10 PTPN11 COG1 TTN PAX1 OTUD6B PDZD7 ABHD5 DVL3 CRX KDM6A ECHS1 TWNK CDHR1 TMEM132E PSMD12 KCNQ1 COG5 TBX15 DIAPH3 LONP1 SERPINB6 AGRN ERCC4 COL4A6 MARVELD2 TPRN GAS8 ACTB CLRN1 PEX16 NIPBL SMAD4 LIPT1 LAMB1 DLX4 NOTCH3 CD109 TRNL1 FGFR1 MARS2 PCDH15 LRP2 ARSA MANBA SRP54 MIR96 KCNJ10 SQSTM1 SPRY4 COL9A2 FGFR3 NDUFA10 MED12 FKBP14 ND2 UFM1 ADAT3 NOG APC2 TRAF7 KIF7 ADPRS NSMF LHX3 GJA1 CLCN7 TBX1 NSD1 KCNN3 REEP6 LMNB2 CREBBP NDUFS7 PDE6D TBX1 ERCC6 XYLT2 TRMU MECP2 PEX14 TULP1 CDC14A TBL1Y COL2A1 DLX5 NDUFS8 PRKAR1A REV3L TARDBP GCK EHMT1 TINF2 SDHD FLNB TRNF PNPLA2 NDUFAF5 FUCA1 RNASEH1 NDUFS1 PPP2R3C NSD2 PCDH15 KISS1 DNAAF5 PEX19 TRPS1 MPDZ ERCC4 NOG BBS1 EP300 MYH9 MPZ PERP COL1A2 GJB2 ADGRV1 FAM149B1 TMPO ND6 SYNE4 IMPG2 COL1A1 HESX1 NEFL DNAH5 MBTPS2 EDNRA IDS ZNF41 KISS1R MYH14 GRHL3 FGFR1 DDX3X TRNS1 NDRG1 KDSR RPGR STEEP1 HAAO TUB ECE1 RNF13 CTSA EPS15L1 SC5D AFF4 SUCLA2 TFAP2A PPCS COL2A1 COX2 DVL1 COQ2 OFD1 IGBP1 RAI1 PEX12 TFAP2B CHD7 FGF8 SIX1 PROKR2 SP7 WHRN NDP FGF10 AMMECR1 TSHZ1 TRMU SNAI2 TWIST1 TIMMDC1 EIF3F POGZ POMGNT1 TCTN3 PDE6G MANBA GDF5 DMXL2 TDGF1 SMARCE1 ALMS1 POU3F4 SIX6 GZF1 SEMA3A HACE1 GJB3 HOXB1 KIF5A ACOX1 SDHA CEACAM16 NRAS AIFM1 CNGA1 PEX26 DHODH PNPLA2 EHMT1 NF2 TCIRG1 DYRK1A NDUFS1 TOP3A TGIF1 GDF5 TRNK CCDC28B PCLO GTF2I TWNK ATP6V0A4 HGSNAT OAT EFNB1 GUCA1B MYO9A TMEM127 FTO KCNJ11 COL13A1 GNAS DLX6 TWNK ATP6V1B2 GMNN AMER1 SETD5 USH1C HK1 COX2 NFIX OFD1 ELAC2 PNPLA1 PEX2 RNF135 UPF3B ATP8B1 COL9A1 SKI RAD51 DUSP6 OTUD6B USH1C TRNT1 NDUFA9 HCFC1 ESPN XRCC2 FSCN2 VHL ERCC6 ODAD1 NME8 AHR COCH LETM1 TBX4 RFWD3 COL4A4 XPA MBTPS2 BTRC CEP290 GPC4 ERCC8 PHEX SCAPER PCDH15 RECQL4 PRKAR1A PROKR2 MLXIPL LZTR1 PRPF31 IQSEC2 ALG12 AK2 SLC52A2 NKX2-1 GUCY2D GTF2E2 SGSH PEX2 ABCC9 BAZ1B TRAPPC4 VPS11 MED12 SLC26A4 TANGO2 PEX1 ARHGEF6 COX3 COX7B NEBL BMP4 ERCC3 ACOX1 KCNAB2 FGF17 SOST ERCC5 EDNRB COL11A1 GALNS FGFR3 OSTM1 CHCHD10 PDZD7 DISP1 TRNL1 KMT2D FIBP TNFSF11 UBR1 PET100 LMNA PROK2 PEX3 FEZF1 SEM1 ACTB IARS1 ERCC6 TRNK SOST NDUFAF4 GTF2IRD1 SLC9A7 IARS2 CHD7 FRMPD4 MGP FGFR3 RASA2 APC SLC25A24 NAGA PUF60 ZIC1 FANCM RPL10 CTNNB1 RSPH9 NOTCH2 NELFA TBC1D24 NAA10 NLRP3 KCNJ11 PIK3C2A PAX2 ND1 ATP1A3 TGM1 USP9X POLG HLA-DPA1 AARS1 ARHGAP29 RIT1 ATP6 PROKR2 ARHGDIA NLRP3 CFAP221 L2HGDH GJB2 TP63 ROBO3 SDHA CDC6 TMPRSS3 AP1S1 TBK1 ESRRB EYA1 ACTL6B MORC2 OFD1 GJB3 PEX1 HARS1 SIX1 FIG4 SLC19A2 ERCC8 GMPPB HLA-DPB1 GLIS3 VPS11 KIT FOXH1 CLCN4 SURF1 SERAC1 AKT1 RNR1 RRAS2 KARS1 SIX5 TRMT10A NIPBL PITX2 SOST PTRH2 PDE1C COL11A2 COL11A1 GAS1 MYCN TXNRD2 MYH9 GMNN ACTB TRNW CTLA4 EPAS1 TUBB3 PDE4D ADAMTS3 SOX10 COL2A1 SPECC1L ERCC3 FGFR2 SPNS2 GPC4 CDON NPHP1 GJB2 FGFR1 SNRPB COL11A2 ERCC2 DISP1 FKTN USB1 NUP107 LSS NLRP3 HARS1 NDUFAF6 COL11A2 FLNA GALC ERCC1 COL11A2 SOX6 LIG4 NF1 FOXE3 TSR2 SRY SDHAF2 CNOT3 RLBP1 TCIRG1 GNRHR TDGF1 TMEM216 FTSJ1 RFT1 COX15 SDHD ROM1 SLC35A2 FGF8 CCDC40 GJB2 COX1 TINF2 LRP5 ARSA ERCC2 SDHC DCAF17 COL1A1 MITF EYA4 GJB4 ITGA2B KIF1B BEST1 TRNS2 SOST KMT2A ITGB3 RP2 ASCL1 SLC52A2 PAX1 BBS9 ARNT2 ATP6V1B1 HTRA2 LDB3 UBB FGF8 PAX3 OTOG TECTA CDH23 RPS28 STAG2 SALL4 CFAP300 COL2A1 GJB1 MAX LONP1 ZBTB20 CISD2 PEX26 GATA3 MARS2 KCNJ10 ERCC8 OSBPL2 SUCLA2 PTDSS1 MYO7A NDUFAF8 MSX1 ATP6V1B2 CCND1 FANCC PJVK CYTB MAF MYH14 FOXJ1 CYP7B1 CASK FANCI NDUFS2 DLG1 SDHC PEX6 CFAP298 SALL4 FARS2 ZIC2 KLHL7 TBX22 ALMS1 SBDS RET CERKL CPLANE1 PEX13 KDM6A DHDDS PEX14 CABP2 LEMD3 SIX1 BBS7 PQBP1 HNF4A COG5 DNASE1L3 TRRAP CHD7 CCDC141 FANCA MYO7A DIAPH1 DMP1 TTC12 KLLN IARS1 RDH5 FBXW11 MAN2B1 STRC PTCH1 STUB1 EPG5 TRNS1 GLI2 GAS2L2 PLCB4 ARID1B FOXI1 TP63 APC ADGRV1 ANKRD1 BCOR MITF SF3B4 COL1A1 POLG2 SOST PEX7 PLOD3 ALG11 SMARCA4 FDXR XPC PMPCB KCNQ4 COL4A5 SMCHD1 SLC26A4 PNPLA8 BCS1L TRIOBP NDP DCDC2 DKK1 MYCN IGBP1 LMNB1 IFT172 STRC VAMP1 TNFRSF11B IQCB1 ANKH RBM8A KCNJ10 NDUFB9 TWNK DGUOK ARL2BP FGFR3 ODC1 LRP5 PIEZO2 PIGL THRB PEX10 TP63 CLRN1 FGF3 DNAJB13 JMJD1C COL2A1 AGBL5 BUB1 PROM1 PLS1 PALB2 NRXN1 COQ7 PISD TBX1 LHX3 PIGT RRM2B STAMBP PEX12 DNAI1 HCCS COL11A1 IFT140 MPLKIP PRPS1 CDH11 MADD HSD17B4 LIMK1 OTOF ARSL MYT1L BMP4 SDHA DARS2 CLCN7 ERCC3 IDH3A EP300 SOX10 NDUFA6 CDC42 CCDC50 ROR1 COL9A3 TANGO2 GAA ACTC1 PPIP5K2 SNX14 POLG NDUFS2 MAP3K7 VAC14 ND3 MEOX1 CD151 BPTF SIN3A FAS SMARCB1 SOX10 BRCA2 DNMT1 ZMIZ1 NOG RNF113A BRAF HNRNPK MBTPS2 EDNRB RAF1 SLC39A8 TAF1 ATRX MYO15A POLG DCC CIB2 SMARCC2 ERCC2 DEAF1 COL9A2 ADGRG1 TXNL4A PSMD12 TK2 INTU ATP6AP1 PEX6 POGZ PEX1 IMPDH1 BPTF TYMP USH1C TSPEAR PIGV SUCLG1 IDUA BCOR POLG SQSTM1 POLR1B ARSA KYNU NEU1 TGIF1 ESRP1 MSRB3 SETBP1 DUSP6 FIBP MYH7 RRM2B PRRX1 PEX6 ZMIZ1 WFS1 PMP22 HDAC4 SLX4 CDT1 RECQL4 A2ML1 RPL10 RPS26 FHL2 GABRD SGMS2 EHMT1 NEK10 FIG4 DOCK3 TRNS2 SURF1 TFAP2A LARS2 TP63 FGFR2 GLI3 RET UFD1 GDF6 PDE4D HNF1B DHX16 UBE2T ERCC3 CHRNG SHANK3 TMC1 BBS5 CACNA1A SF3B4 PRPF3 ERCC6 FGFR3 MED13L RUNX2 PRPS1 KANSL1 PTCH1 NR2F1 DNAJC19 FBN1 TDGF1 ARL6 GCH1 DNMT1 PAX3 TRAPPC12 PEX5 HGF RAI1 NDUFS2 NR2E3 PCARE MAK SALL1 ZEB2 PIGO SMC1A MAP2K1 NDUFAF4 ERCC4 TWIST1 PAX3 HSD17B10 TWIST1 SMC3 YME1L1 PDX1 DUX4 PEX19 FLNA GBA2 DLL1 DOLK MASP1 SHH DPH1 MSTO1 PRPF4 TBCK MTRR HDAC8 SH3TC2 ITGB6 STAG2 LRAT WHRN EYA1 EFL1 TERC BUB3 CRX NSD1 KIAA1549 CD164 MFN2 TRIP13 DNAJC3 PRDM16 KMT2C DDX3X PRPF6 NARS2 AMMECR1 DNAAF6 BCR IFRD1 PIGS LRP12 BBS2 SNAP29 AHDC1 ABCC8 FANCA SNAP25 NR5A1 NOTCH3 DLL1 KCNE5 ARL6 MAN2B1 COMT SPRY4 EDNRB AAAS CEP250 KCNJ10 GAB1 CDK5RAP2 ERCC4 RPS6KA3 POU3F4 SALL1 KCNC3 ABCD1 IGF1 ATP6V1B2 LHX1 TGIF1 TRNH CLDN14 SLC39A14 DNAH1 CSRP3 GJB3 PIEZO1 FAT4 ALG13 LORICRIN ACTN2 PSEN1 AGTR2 HOMER2 EPG5 GJB1 ERCC6 PRPS1 DDB2 CASK ESPN SHH ARID1B PDE6A HACE1 SPECC1L TP63 PRKDC GJC2 PIK3C2A NOG IFT172 TTR LZTFL1 PEPD SNRPB RBP3 GAA CTNNB1 MRPS2 PNPT1 PTEN MYH3 MFN2 SLC26A2 RAD51C GALE RAB39B PRPS1 ABHD12 TTC8 GJB2 CLIP2 IFT140 ELMOD3 GRXCR2 HIRA ACTG1 EPS8L2 S1PR2 DRC1 SVBP NRAS HOXA1 KCNE1 COX1 SIX3 TELO2 TIMM8A ELN POLG LHFPL5 MYD88 GNRH1 CLCNKB ARSB PEX6 PAX3 RPL11 MOGS PORCN SNRNP200 SOX11 USP9X SHOC2 ND4 POLG COL2A1 CYP7B1 MITF SON EDN3 DVL3 CRYM COLEC10 HESX1 TRNL1 PAX2 ALX1 PTPN11 MEOX1 MCM2 ARL6 RP9 ABHD5 PEX2 FAT4 DACT1 RHO POLR1D GLA LRRC6 TRNW TNFRSF11A CDH23 SHH PDE6B CASK CHST14 TRNV TANC2 NUS1 FLNA COL2A1 TRNL1 DLX5 ZNF513 RNF13 CCNO GJB2 FGFR2 SLC25A4 IDUA MGP NDUFA11 NDUFS3 GSN TSPAN7 SLC35C1 CAP2 FAM161A EXOSC2 COL11A2 AHSG FRAS1 NDUFA12 ADK MYCN MYO3A TRNH TGFB1 PTPN11 FGF17 USP45 FGFR1 GATA2 IGF1 ORC6 IDH3B DNM1L ZNF469 SIN3A PRPS1 ND1 KMT2D SOS2 SLC19A2 LAMA4 NF2 FOXRED1 MICOS13 DCHS1 PAK3 GATA3 SLC25A4 MEGF8 DCHS1 CNOT1 ZEB2 ARID2 CHN1 COL2A1 EYA1 MECOM AP1B1 EXT1 KCNH1 MAP3K20 EYA1 MRAS MRPS28 CAT PLP1 CHRNG RAC1 FGFR3 MYO6 TRNQ FIG4 XRCC4 ND3 KIF7 MSTO1 PDHA1 C9ORF72 DNAH9 NECTIN1 BEAN1 USH2A GDF3 LARS1 MRAS NSD2 HS6ST1 DPF2 TNFRSF11A USH1G ITGA2 TWIST1 MAN2B1 FLNA PIK3CA DDX6 TAZ TNNT2 PTCH1 NLRP3 CHD4 SEMA4A ORC1 TRPV4 GSDME NDUFV1 HOXA11 GJC2 ERCC4 ST3GAL5 ODC1 FGFR1 RBM20 TWIST1 NDUFA13 BCORL1 NDUFA4 CDCA7 ACSL4 ND1 COG7 IDUA GATAD1 MID2 SLC4A11 STAG2 GSC ANOS1 PEX7 PDZD7 NDUFAF3 MYPN USH1G PTEN PYCR2 TNNI3 FGF9 SLC4A11 TP63 FGF8 PPP1CB TACR3 FGFR1 GLYCTK PEX14 MAP3K7 TRNP NIPAL4 MAPK1 NDUFS3 PHYH HNF1B ND5 GJB6 WDR11 IDS DNAAF3 RAI1 DNAAF3 FAM149B1 PCGF2 FLCN ALG11 BCAP31 SCN5A PEX7 FOXI1 PDK3 IL1RAPL1 NALCN PEX11B SLC39A8 NEK2 LMX1B PTRH2 CRYAB STAC3 SELENOI PIGL RD3 NDUFS8 NDUFB8 SPEF2 DIABLO OTOA NECTIN1 PBX1 ACY1 TBL2 BBS2 ZBTB20 TAC3 SDCCAG8 FANCE TGFB1 RIPOR2 RFC2 NOP56 MN1 GBA2 LRP5 TMEM38B SGPL1 RRM2B SALL4 PAX7 CCDC103 OFD1 SOST SURF1 SIX3 SOX10 BRCA1 COCH STAG2 CRKL POLR1D SRCAP GATC MET SGCD SIX1 OPA3 FGF3 POLR3H HS6ST1 ALX3 HAND2 KITLG YAP1 CERS3 MSX1 SEMA3E WFS1 CDON SRPX2 PRPS1 NMNAT1 OPA1 ABCB6 FXN NOP10 FOXRED1 RAF1 OPA1 MED12 TRNQ PRDM16 DNAJC3 RPS23 ACTL6A NDUFS7 TK2 ZIC2 NUBPL ERCC2 TAF1A MFN2 SOX2 IARS2 USP27X RTEL1 NDUFB3 GPSM2 GPC3 GJB2 CLIC5 LRP4 RERE TPM1 SMCHD1 MAD2L2 CEP290 TRNE PNPLA6 SKI AIFM1 ASPA PIK3CA POR PGM3 DCC EBP ANKRD11 TRNW SMC1A MTFMT RTTN EPS8 ACTG1 CHAT POLR1C CHST14 SDHC SEC31A RSPH3 COX7B SLC25A1 PTCH1 TBX22 KCNH1 GNAS MPZ B3GALT6 GLI2 RP1L1 GAS1 CRB1 NDUFA13 COQ8A ANOS1 WNT10B POU4F3 LCA5 SLC26A4 WRAP53 CIB2 PAX3 NDUFV1 HGSNAT KCNQ1 CREB3L1 BCOR LMX1B MYO7A FITM2 KISS1R FGFR3 GTF2H5 TRNV TERT FAT4 LRP2 OPA1 NSMF PSEN2 DNAAF4 DUSP6 MYH3 PTPN22 COL4A3 CARS2 CHD7 LRP4 POLD1 EXOSC8 VCL QRSL1 CREBBP SMCHD1 SNAP29 RECQL4 THOC6 NAGLU TRNL1 RET CTC1 TRMT1 PEX5 PRPS1 ACVR1 DMXL2 RERE GDF6 ND5 SDHD SYT2 NFIX CCDC39 NDNF HSD17B10 WHCR ACSL4 DLG3 LRTOMT NAA10 SARDH ND6 FGFR3 EP300 NDUFS4 ZIC1 BMP15 COL2A1 PTH1R DVL1 MAP3K7 GAS8 DKC1 TRAPPC11 CRB1 CEP78 NODAL GRM7 TCF12 ERCC4 RDH12 PYCR2 RSPH4A FSHR NDUFAF1 RFT1 CCDC65 HDAC8 PROKR2 USP7 NAGA SLC25A11 GNAS RHO ATP6V1B2 RET FLII ATP6 CDH1 TNFRSF11A IRF6 COA8 DMD C8ORF37 AP1S2 RLIM DPF2 NEU1 ASAH1 INS BTD
HP:0002664: Neoplasm
Genes 1522
SF3B1 GFI1B IGF2 FIBP RPS7 WT1 COL7A1 TREX1 HSPG2 CASP8 SLC22A18 MC1R TFE3 KRAS PLAG1 OFD1 BRAF NUMA1 KRT16 PSENEN CTPS1 APC SOX9 FANCM OPCML CDKN2A RPS15A CTNNB1 SDHD EDN3 FCN3 NELFA GJC2 MALT1 HPGD GLI1 CD70 SPINK1 LETM1 PMS1 LRP5 HNF1B EXT1 TCF4 ELMO2 MET ANTXR1 KRT16 KRT10 PAX4 SETBP1 TERT WT1 SMARCB1 GJB6 HRAS STK11 BUB1B GNPTAB MYD88 MCC GJB2 BRCA1 TP63 PDGFRL TARS1 NF1 FGFR3 KARS1 BARD1 BRIP1 GATA2 IL1RN BRAF CD81 TNFRSF13B TYROBP AR LIG4 KLF11 ABL1 MVK BMPR1A PIK3CA B3GALT6 SLC37A4 SOS1 TSC1 FGFR3 ATRX FANCG TET2 KIT SRP72 MPL TP53 SMAD4 EVC2 MAPRE2 DLST BRCA1 DICER1 HRAS AKT1 RNR1 TSC1 TNPO3 XRCC4 DNMT3A NEUROD1 THPO MN1 NOD2 SRSF2 PPM1D FLT4 ATP7A IL7 KRAS GDNF WNT10A EPAS1 COL1A1 IL1B MRAP ADAMTS3 PRKCD SUFU PTCH1 ERCC3 KRT14 CXCR4 HOXD13 IGF2 LIG4 PALB2 BLM NRAS ERCC3 FOXP1 SDHD TP53 PKD2 PDX1 TINF2 ADA2 MYF6 RHBDF2 POU6F2 PHKG2 CDKN2A RUNX1 ERCC2 MAP2K2 WT1 USB1 GATA4 FGFR2 ACD CR2 MUTYH ARL6IP6 FAH MSH2 RASA1 NEK1 SOX6 NR0B1 LIG4 CDKN2B NF1 NF1 POLE RPL35 SRY SDHAF2 FANCL CPLX1 FAS PRKAR1A PHB SDHA CALR PIK3R1 FAN1 TET2 TMEM216 RSPO1 SEMA3D MDM4 SDHD HRAS NUP214 GJA1 PIK3CA CCND1 RNF6 MSH2 C11ORF95 MVK MCM4 FLI1 TINF2 KIAA0753 ECM1 ARSA ERCC2 SOX2 SDHC SLC26A2 MPL VANGL1 PUF60 RAD51D POT1 CR2 ESCO2 FOXE1 PMVK SRY GJB4 TRIM37 KIT EXT2 PDGFB KIF1B FANCF IGF2R MLH1 GDNF PIK3CA ASCC1 ASCL1 TCIRG1 APPL1 RPS19 BCL10 IGF2 NRAS FLT3 STAT1 BCL10 RMRP GNAI3 KRAS GPR101 BAP1 NKX2-1 MAX BMPR1A DDB2 SMARCB1 RAD51 FGFR3 ALX4 BTK MSH6 NOTCH3 DICER1 CXCR4 CCBE1 RET WT1 TP53 PALLD RNASEH2B WT1 ATR CCND1 KCNQ1OT1 SMAD4 AHCY STK11 FANCC TRNK BCL6 SMAD4 SKIV2L HMBS TP53 TERT PHOX2B SNAI2 BRAF TCOF1 FANCI NRAS REST SDHC HBB HFE CREBBP MET SEC23A CEP57 CTLA4 TRIM28 SMAD7 GNAS BRCA2 PALB2 FGF8 SBDS RET ALK GJB2 CPLANE1 GPC3 TCTN3 PTEN RB1 INTU CYP26C1 LEMD3 PRLR CDON NLRP1 GPR101 DHH HNF4A MMEL1 DNASE1L3 RASGRP1 ATRX CHEK2 FANCA SPRED1 DNM2 FLT4 CHEK2 RPS19 KLLN HACE1 HNF1A PTPN11 CDKN1B GAS1 BRCA2 KCNQ1OT1 NPM1 FGFR3 MC1R MINPP1 PTPN11 TSC2 ABCA5 BRCA2 PLCB4 SCN11A HNF1A BRAF RB1 CBL ARHGAP26 SUFU PTPRJ C1S APC IRF5 GNAQ GDNF TERT MYSM1 XPC TMC8 COL4A5 ERBB3 SLC26A4 CD96 NSUN2 PDGFRA FERMT1 TYR DNAJC21 MSH2 SH3GL1 TUBB RET BRAF ESR1 PAX3 RHBDF2 RTL1 WRN DYNC2LI1 ELANE EXOC6B RPS26 EWSR1 VHL PIGA GCGR POU6F2 RNF43 POLE BRAF MNX1 SFTPA2 CDH23 ASCL1 APC ACVR1 PIGL BAX RAG2 RSPO1 MSH3 PGM3 FGF3 FANCE MPL TP53 COL7A1 BUB1 TET2 PALB2 ACTB PNP SDHC EDN3 XPA TMC6 NEK1 GNA11 KAT6B KRT1 RUNX1 PAX7 NOTCH1 ENG CTNNB1 ETV6 MPLKIP PARN CDKN2A PTPN3 STAG3 MDM2 TP53 LAMC2 NBEAL2 VAMP7 GNA14 DCLRE1C CBL GCDH FANCC AXIN2 PYGL SOS1 BLK WRAP53 IDH1 KRAS CCM2 APC ASXL1 ATP7B ERCC3 SF3B1 EP300 BRCA2 MGAT2 NRTN CDKN2A DICER1 PMS1 RPS10 TBC1D24 FAH BRCA2 ASXL1 BCR C2CD3 KRAS IDH1 IGLL1 RASA1 BRCA2 CHEK2 PTCH1 RNF113A BRAF MBTPS2 EDNRB IGHM PDGFRB RAF1 MEN1 FASLG TUBB NDUFAF6 FOXI1 TGFBR1 EPCAM CYLD SDHB APC CYP2D6 TAF1 KRT17 BRCA1 BUB1B BAP1 GDF2 BUB1B ERCC2 TP53 KRT5 GATA2 BRCA1 RAD54B MRE11 STAC3 DNMT3A MLH1 BCHE EDN3 CDKN1B AURKA NRAS FLCN IDH2 EDN1 ESCO2 USF3 IGH POT1 ACVRL1 JAK2 NBN NRAS SQSTM1 TMEM127 ZFPM2 SLC12A3 NTHL1 ADA CHIC2 STAT3 SETBP1 FANCB FIBP STAT3 STK11 MLLT10 SFTPC HDAC4 NUP214 GLI2 SLX4 TSC1 ERCC6 TP53 CLCNKB KLF6 OGG1 JAK2 PAX6 RECQL4 RPL31 MYO1H FH RPGRIP1L SLC45A2 RPL10 RPL10 HMBS GDF5 TNFRSF10B PIK3CA GABRD TP53 BRCA2 SEMA4A BCR PALB2 ASXL1 KRT6B CCDC22 SAMD9 DMPK DCC ERCC5 RPL5 CTNNB1 RPS27 TRNS2 PTCH1 PTEN TFAP2A RPS24 RPL35A RET AXIN1 HNF1B ARMC5 UBE2T SRP54 SSX2 DKC1 ERCC3 JAK2 GNA11 LAMB3 GJB2 NFKB1 KCNQ1 GLI3 PIK3CA KANSL1 CASP8 MYC RECQL4 ACAN CACNA1S BDNF KIF11 MDH2 MSL3 FGFR1 TERF2IP HFE NFKB2 TOP2A GFI1 SRD5A3 PHKA2 MAX POLE MAP2K1 EYA1 RNF43 ALX3 SETD2 ERCC4 CTLA4 SIX3 LEMD3 OCRL CDH23 DZIP1L MSH3 AR CDC73 PDGFRL TWIST1 POU2AF1 DKC1 CALR LIN28B KRT6A GATA1 MC1R DIS3L2 CD28 CDC73 ADA2 UROD CIB1 TSR2 WNT5A TET2 PHOX2B BMPER KIT DLC1 MSTO1 H19-ICR SLC25A13 ADAR TMEM67 BMPR1A MLH3 POLR1C KRT6B FH EFL1 TERC BUB3 FOXC2 NOTCH3 KIT NSD1 FGFR2 SLC6A17 MAP3K1 TRIP13 MEG3 RRAS2 BMPR1A NF1 DPM1 LIG4 PARN RHOH BRCA2 NF1 TAF15 RFWD3 VHL H19 BCR KRAS VANGL2 KRAS SDHD DVL3 BIN1 ABL1 GPC3 HAX1 FANCA GDNF NHP2 IGF2 VHL CCL2 EXTL3 RUNX1 PRKCD BLNK MSH6 SLC22A18 IL2RG PTH1R SDHB AIP WDPCP APC KCNJ10 ASPSCR1 OCA2 TP53 WT1 SPRTN TET2 TAL1 L2HGDH KIT SDHC ERCC4 GPR143 PRKN SMAD4 SEMA3C TRNS1 BRCA1 SHOX PCNA FANCG CREB1 TRNH VHL MYLK BAP1 SUFU ANTXR1 POLD1 NODAL IGH JAK2 MS4A1 MEN1 TSC2 GATA2 DHCR7 TINF2 F13B RB1 COL7A1 SCN4A BMPR1A DDB2 CDKN2A SDHD CYP11B2 IL7 ARID1B KIT FGFR1 RET CDKN2A LAMA3 CHEK2 TBX2 TBX18 HNF4A GPC4 SHH LMNA BMP2 YY1 AKT1 WT1 BAP1 FZD2 SH2B3 BTK GATA1 RAD54L ATM CTBP1 PTEN SRY RYR1 CTHRC1 MFN2 PTEN RAD21 PTEN MYC SLC26A2 TP53 CTNNB1 RAD51C NAB2 NLRP1 SUFU DLL1 PSAP SDHB REST TGFBR2 TRIP13 IGH ABCC8 IL6 CPLANE1 H19 FANCD2 FGFR2 RET PKD1 DNMT3A REST CHEK2 GNAQ MXI1 BRIP1 DYNC2LI1 GNAS TP53 GLI3 DIS3L2 NRAS PICALM WT1 BAP1 MEN1 TXNRD2 MGMT PTEN MYD88 GNAS POT1 AGGF1 BUB1 PTEN PORCN HFE NUTM1 PHOX2B MSX2 PMS2 SLX4 H19 USP9X RPL27 GNAS SEC23B CBL CD28 PKHD1 AXIN2 TRPV3 KLLN SSX1 TSC1 PPOX KRT17 CARD14 HRAS TCF3 RPL11 CC2D2A GREM1 CHEK2 AP2S1 NRAS TRNL1 ALX1 CREBBP TCTN3 TET2 ESCO2 DOCK8 NRAS STK11 GCM2 TTC37 WT1 SMAD4 DAXX MITF BCL2 DIS3L2 POLR1D TDGF1 KRAS TNFRSF13C KIT PHOX2B SF3B1 RPL15 NF1 TERT TNFRSF1B FANCD2 MLH3 IL7R GPC4 H19-ICR SLC17A9 MEN1 MST1R KIT RAD50 TJP2 DNAJC21 PDCD10 MUTYH IL12RB1 SH2D1A FGFR2 NBN KRAS KIT CASR ENPP1 SDHB HRAS IKBKG PNP EXT2 BRD4 SMARCB1 REST COL11A2 TG KIT LIG4 SUFU NBN RSPRY1 CYSLTR2 SDHD AAGAB BLM RAG1 RNF139 RB1CC1 ACD PTPN11 SLC26A2 TREX1 BMPR1B DDR2 ZAP70 MNX1 MAGT1 AIP GATA2 AR STAR IFIH1 IDH2 BRCA1 USP8 RB1 FGFRL1 SMO USP8 RMRP SLC25A11 MLH3 FUZ DOCK8 SUFU NF2 KDR KRAS RPS14 CASP10 SRP54 ZSWIM6 TBXT PTCH2 EWSR1 TNFRSF13C MTAP NQO2 RPL18 DNAJC21 GCK ERCC6 KDM6B EXT1 SBDS CCND1 SDHAF2 KCNH1 CYLD LMOD1 PDGFRA CAT CHRNG TRNQ ADA NRAS TLR2 SHOX FGFR3 BCL10 TYR KRAS COL2A1 PTCH2 SMO GBA MSTO1 TREM2 JAK2 TMEM231 MSH2 ASXL1 RET DHCR7 NBN PIK3CA NSD2 SDHB EIF2AK4 PALB2 KIF7 PTPN11 PIK3CA HLA-DRB1 STIM1 TMC6 KIF1B TNFSF15 RELA AKT1 NPM1 APC SDHA SDHB STAT6 CDKN1C CDC73 PTCH2 KANSL1 ZSWIM6 FLCN HBB LZTS1 FN1 TRAF7 ACP5 CTNNB1 MLH1 EXT2 RNASEL RNASEH2A IL2RG ATP7A CDK4 CYP11B1 MMP1 SDHB ATRX ACTG2 FOXH1 OFD1 NEK9 STS MUC5B PRKCD PTPN11 PTCH2 LRRC8A RPL26 MSH6 NNT LZTR1 CDC73 PTEN AKT1 AKT1 SASH1 HRAS ANAPC1 PTPN12 KCNJ11 TCF4 GATA2 MLH3 ERCC4 GNB1 DISP1 IDH1 BCR GANAB MSH6 NR5A1 TSC2 GFI1 TNFSF12 TRNP MAPK1 IFNG FLT4 MTM1 WWOX HABP2 RPS28 HRAS SLCO2A1 ND5 SDHB CHD7 BRIP1 SLC37A4 MC2R XRCC3 TNFRSF4 NAGS PHF21A ZIC2 PCGF2 SMARCE1 CTNNB1 SRP54 CDH1 CDK4 RPS20 KCNJ10 RAD21 RNF6 COL14A1 SMO CD19 WRN SRGAP1 CDKN2C AXIN2 GPC6 WWOX HSPA9 FOXI1 CPOX RPS17 APC2 MYH8 SERPINA1 ATM LMX1B ENG POLH TGFBR2 DHX37 VEGFC KIF1B KRT17 DDX41 SPIB CBFB HRAS BCL10 PIGL FGFR1 NSD1 F5 KCNN3 BAX PIEZO2 RECQL4 CREBBP KIT PDGFB PDE6D ABCA5 AKT1 KLHDC8B TNFSF12 EPCAM RARA MLH1 GINS1 EVC PIK3CA FANCE WIPF1 NF2 PDGFRA PRKAR1A CDH1 SDHD PRCC TRNF PTCH1 TNFRSF1B WNT10A WWOX MAD1L1 MTOR WDPCP RNASEH2C NSD2 SAMD9L FH LPP NF1 KRIT1 NTHL1 IL12A HNF1A CDH1 SMARCB1 SMARCE1 CD19 FH FDPS TRPS1 ERCC4 SMPD1 SMARCD2 BRCA1 MPL CRKL SEC23A EXT1 PERP ATM FOXE1 CDKN2B CTSC SIX1 FAM149B1 CDH1 RAD51C ALX3 DLST TRIP13 ING1 PDGFRB FLT3 COL18A1 MST1 TGIF1 TMEM107 SRSF2 TRIM28 BAP1 ANTXR2 CD79A PIK3R1 MAP3K1 NOP10 PIK3CA POLD1 KDSR CCND1 TP53 TMC8 ALK MAP2K1 CD79B SDHC ECE1 PALLD CTSA PRDM16 IVNS1ABP CALR FLNA GPR101 BRCA2 ERCC2 DYNC2H1 TFAP2A COL2A1 DVL1 TERT APC TERT TEK EXT2 TERC ALX4 OFD1 LMO1 PDGFRB RPS14 DCC RTEL1 INS TSC2 FAM20C MYH11 GPC3 SCN9A SMAD4 RASGRP1 HBB TGFBR2 RERE NDP PLA2G2A TCF4 MAD2L2 SKI AIP HMMR SDHC SNAI2 PIK3CA LMNA PGM3 ABCB11 TAL2 WT1 VHL PIK3CA TCTN3 SAMD9L ICOS GLI3 RB1 SLC25A13 SDHC DCLRE1C GCM2 VANGL1 SIX6 WT1 PMS2 KCNH1 BARD1 H19-ICR GNAS TERT CIB1 B3GALT6 GJB3 ERBB2 SDHA KRAS CDC73 TNFRSF13B TET2 FGFR3 WAS SEC23B TGFBR2 TP53 NF2 SMARCA4 NF2 SLC26A4 ANTXR2 WRAP53 FAS SAMHD1 TP53 TET2 ATP7A PTEN SH3KBP1 CARMIL2 MVD PDGFB ABCC6 G6PC1 TRNK KRAS GPC3 PTEN NF2 JAK2 DMRT3 GNAQ RAD51 GTF2H5 TMEM127 TERT RUNX1 FAT4 AR HABP2 NR4A3 EP300 MINPP1 OFD1 RASA1 DLEC1 BIRC3 AIP CD27 PHOX2B BMPR1A KCNE3 PLCD1 RAD51 KRT1 MSH3 MITF EPHB2 DHCR24 RABL3 KRT17 XRCC2 NRAS ITK VHL BICC1 RECQL4 SMARCAD1 MYCN RET CTC1 PTCH1 JAK2 SRC SDHB PHOX2B AKT1 KEAP1 JAG1 VHL LETM1 NLRP1 MEN1 BRCA2 FLCN C2CD3 RFWD3 XPA APC APC SDHD FOXO1 MAFA WHCR GPC4 MLH1 ICOS CDKN1B MTMR14 KIT DICER1 EP300 ZFHX3 MMP1 PRKAR1A KRT9 F13A1 CTNNB1 MPL INPP5E NF1 DKC1 TERT DLK1 SCN10A STS RPS29 PTEN FLCN LRBA ELANE GTF2E2 ATM PIK3CA GPR35 CYLD RAD51C CDKN1A WT1 DICER1 PIK3CA TERC PIK3CA SLC25A11 GNAS CEBPA ATP6V1B2 RET XPC EXT1 BRCA2 SH2B3 ERCC3 BRCA2 RTEL1 WASHC5 ERCC2 AKT1 KCNAB2 CYLD STK4 POLH ERCC5 CDH1 CEL XIAP MSR1 TP53 TET2 DHH PRKAR1A