SNPMiner Trials by Shray Alag


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Report for Mutation C677T

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 31 clinical trials

Clinical Trials


1 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 Unspecified Childhood Solid Tumor, Protocol Specific 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

2 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 Pseudotumor Cerebri 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 ---


3 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 Male Infertility
MeSH: Infertility Infertility, Male
HPO: Infertility Male infertility

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


4 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 Mortality Hyperhomocysteinemia Inflammation Drug: 5-MTHF (5-methyltetrahydrofolate) Drug: folic acid
MeSH: Hyperhomocysteinemia 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

5 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 B12 Deficiency Combined With C677T Mutation on MTHFR Gene 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.

6 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 Diabetic Nephropathies Hyperhomocysteinemia Drug: Folic acid 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.

7 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 Primary Hypertension Drug: Enalapril/folic acid 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

8 Correlation of Genetic Polymorphism and Livedo Vasculitis

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

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

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


9 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 the Effect of MTHFR C677T on Folate Metabolism Dietary Supplement: folic acid plus B6 and B12 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

10 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 Abortion, Recurrent Drug: Skin test panel 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

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

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

NCT01443273 Premature Thrombosis Other: Medical Records study
MeSH: Thrombosis

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

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

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

NCT01542411 Recurrent Pregnancy Loss
MeSH: Abortion, Habitual

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


13 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 Hypertension Dyslipidemia Dietary Supplement: Placebo 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

14 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 Nutritional Anemia in Mothers. Nutritional Anemia in Infants. Dietary Supplement: Vitamin B12 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

15 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 Essential Hypertension Drug: Amlodipine Drug: amlodipine-FA tablet, low dose group 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.

16 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 Hypertension Hyperhomocysteinemia Drug: Enalapril maleate and folic acid tablets 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

17 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 Essential Hypertension Drug: Amlodipine-FA tablet,low dose group Drug: Amlodipine-FA tablet,high dose group 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.

18 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 Off-spring Cancer Risk Behavioral: nutrition counseling 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

19 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 Single-Gene Disease 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

20 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 Participants With the MTHFR 677TT Genotype Dietary Supplement: Placebo comparator Dietary Supplement: 1.6mg riboflavin (Vitamin B2) 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

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

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

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

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

Primary Outcomes

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

Time: 1 year

22 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 Depression Dietary Supplement: Enlyte 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

23 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 Overweight and Obesity Other: 191 mcg/day of Folate 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

24 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 Infertility Low Molecular Weight Heparin 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

25 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 High Blood Pressure MTHFR C677T Genotype Dietary Supplement: Riboflavin 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

26 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 Overweight and Obesity 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

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

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

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

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

28 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 Hypertension Drug: Folic Acid Drug: Enalapril Maleate and Folic Acid Tablets (Yiye) 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

29 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 Colon Cancer MTHFR Gene Mutation Chemotherapeutic Toxicity 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)

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

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

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

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

31 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 Pediatric NHL 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


HPO Nodes


Hypertension
Genes 410
GPC3 MPL PRKAR1A ABCG8 ND1 CYP11B1 TRNS1 B2M MMP2 BRCA2 SDCCAG8 HMBS LYZ PKD1 C8ORF37 BSCL2 WT1 SCNN1B SLC25A11 COX2 CEP19 TRNQ YY1AP1 ECE1 WT1 KCNJ5 ENPP1 FN1 PDE11A HGD SLC25A11 HSD11B2 MFAP5 GUCY1A1 DYRK1B SPRY2 SLC2A10 SMAD6 COX3 SCNN1G SCNN1B LARS2 FOXF1 NPHP4 TRNL1 TMEM67 IL12B HIRA TRIM28 MLXIPL CDH23 CLIP2 HLA-B TRNF POU6F2 NFU1 SDHC CEP290 ENPP1 EDA CYTB SDCCAG8 HLA-DPB1 SCNN1A NKX2-5 COL5A1 LEMD3 YY1AP1 TBL2 ALMS1 NOTCH3 CLCN2 ARVCF SEC24C CFH FH TGFB2 TMEM127 ARMC5 AIP SDHA JMJD1C COX1 ND5 COMT NF1 CACNA1D TGFBR1 REST LDLRAP1 GTF2I PDE3A TNFRSF11B MAT2A HSD11B2 TRNH CORIN SERPINA6 BBS10 AIP MAFB FOXE3 SCN2B SMAD4 CYP11B1 TRNK SLC52A3 TRNL1 CYP17A1 GBA SDHB BBS1 HBB CCR6 XPNPEP3 ERCC4 VHL BBS7 GP1BB TRNE OSGEP PPARG NOS3 TRPC6 HMBS JAK2 VHL KRT18 TRNS1 WT1 NPHP1 SDHD INVS KCTD1 OFD1 USP8 FIG4 TRIM28 LRIG2 PCSK9 SDHB SCNN1G CCN2 COL1A1 TRNL1 WT1 PTPN22 LDLR PRKAR1A COX1 VHL TRNC COQ7 LEMD3 PRKACA MKKS BBS5 SLC52A2 SDHD TRNW COX3 RREB1 GPR101 SMAD3 INVS KIF1B DNAJB11 COX2 APOA1 RET ARHGAP31 KCNJ5 WT1 ND5 GDNF CUL3 GLA FLT1 ACVRL1 TNFRSF11A VHL GNAS PRTN3 COL3A1 ABCC6 XYLT1 CYP11B1 ADAMTSL4 FGA C3 COL5A2 BBS9 ERCC6 KCNJ5 FBN1 APOB BAZ1B PAM16 POU3F4 TMEM70 ND4 STOX1 GNAS RFC2 TGFBR2 CALR IQCB1 CYP21A2 MMP14 SLC37A4 ALX4 TRNQ TBX1 THPO GTF2IRD1 GATA5 ND6 FN1 RPGRIP1L CFB ANGPTL6 RET XYLT2 VANGL1 NR3C1 PDE11A NR3C2 POR TRNK BMPR2 MGP TRNV SUGCT RET MYH11 PRKAR1A MDH2 FMO3 KLHL3 WNK4 TMEM237 LZTFL1 TRNK IRF5 STAT1 NSMCE2 MUC1 COL4A4 HLA-DPA1 GLA IDUA NOTCH2 TRNW CC2D2A SCNN1A NR3C1 CPOX USP8 BBS2 ELN CYP11B2 SMARCAL1 LMX1B BNC2 TRIM32 MAX MKS1 PKD2 LRP6 PRKACA COL3A1 SDHD NPHP1 MAX PRKG1 MYLK HLA-DRB1 DIS3L2 CFI LMX1B ACAT1 ELN EGFR ND6 ELP1 ELN SLC37A4 PPARG CEP164 LMNA PLIN1 DLST TP53 TRNF SMAD4 LOX UFD1 FMR1 SDHB NOTCH1 SMAD4 BBS12 IFT172 ABCG5 MYMK CFHR1 TRIP13 SLC2A10 GJA1 WDPCP FUZ CYP17A1 TRNS2 WDR35 MYH7 SDHAF2 LMNA NPHP3 GUCY1A1 EXT2 HPSE2 OFD1 LMNA FGFR2 MEF2A PLIN1 COL4A3 CEP290 ACTA2 KIF1B CD2AP TGFB3 FBN1 TRNS2 SH2B3 COL4A5 NOD2 SDHC PDE3A G6PC THBD FBN1 CAV1 TTC8 ALMS1 ITGA8 LMNA GANAB LIMK1 BBIP1 CTLA4 BANF1 CCDC28B CFHR3 FBN1 H19 CACNA1H ARMC5 AIP CCND1 ADA2 ARL6 EDA2R CBS SH2B3 TET2 CACNA1D ADA2 ND1 VAC14 IFT27 PDE8B CYP11B1 TRAF3IP1 CDH23 BBS1 TMEM127 COL4A3 GNAS ELP1 ACTA2 NPHP1 MTTP WNK1 WDR19 ZMPSTE24 CD46 GCH1 KCTD1 ADA2 ABCB6 ACTN4 NFIX ENG TGFBR3 ABCC6 WRN LMNA BBS4 PKHD1 FGFR2 MC4R ERCC8 KIF1B KRT8 TBX1 JAK2 PHF21A MLX ABCC6
Abnormality of the kidney
Genes 1660
GPC3 UBR1 FAT4 GLI3 IL17RA SOX9 STRA6 CASP10 PIGL PLCE1 SDCCAG8 KRT17 GLI1 SDHD COL4A4 LRP4 NDUFB10 LMNA FAT4 FGF8 WAS TXNL4A ROR2 CTU2 REN ENPP1 PLG LRP5 HSD11B2 GBA RAB23 AXIN2 DYNC2LI1 WDR19 SPRY2 ASXL1 PNPLA6 PIGV TBX1 NPHP4 TMEM67 CFH BLK MYO1E ZFPM2 SPINK5 HIRA GBE1 ALG9 WDR60 CFHR5 MCTP2 BUB1B LHX1 BCOR HLA-DPB1 KAT6B PET100 MEFV SF3B4 SSR4 IL10 PYCR2 CDK6 WDR73 SLC36A2 YAP1 PIK3C2A B3GLCT FCGR2A COG6 B9D2 IGF2 OGG1 ITGB4 HPRT1 IFT27 NUP205 COQ8B CWC27 RNU4ATAC LDLRAP1 GTF2I CCNQ SLC25A22 RPGRIP1L ZNF687 COA8 FAM20C RPS26 ACVRL1 VPS33B COPB2 GABBR2 RECQL4 CYP4F22 DLL1 ITGA2B ND4 CCR6 ND2 DCHS1 C1R BBS7 KLLN OCRL SIX3 PEX6 TRNE CD81 CHD7 CRB2 BRCA1 WDR35 ETFB MARS1 FLNB DVL1 LETM1 MAP2K2 HRAS WT1 NDUFB8 NEK8 GREB1L KCTD1 CEP41 ARID1B LRIG2 SERPINF2 GATA3 CC2D2A SDHB GPC4 XDH LDLR AR SAA1 MET ALG9 CLDN10 DUSP6 PACS1 SDHD EFEMP2 SMARCC2 AGGF1 MAP2K1 PIGA ESCO2 ITGA3 HNF1A CFI ALG1 RAD51C DNAJB11 DGKE MINPP1 APOA1 TTR KIF14 AFF4 FLNA ZAP70 WDR34 GLA MYH11 NDUFAF1 DYNC2LI1 KCNJ11 HYLS1 VHL ATP6 TTC21B RAD51C DDX59 RMRP FGA COL5A2 VAMP7 NDUFB3 APOB CCR1 SON PDE6D GP1BA KCNQ1OT1 STRA6 FANCD2 GAS1 KMT2D FAM20A ATRX RFC2 FAM20A WIPF1 TRNT CLDN19 PTH1R SLC37A4 TBC1D20 SRY TRNQ PTPN22 TRNN IL17F MEFV FIBP SCARB2 FANCI RPGRIP1L GP9 UMPS MKKS NSD2 MAP3K1 BSCL2 VANGL1 MAD2L2 PTPN22 SEMA3A SLC3A1 TMEM216 SCN2A OFD1 SMARCAL1 WDR4 UMOD GPR35 FGF10 FANCA COL4A4 HLA-DPA1 CD96 SLX4 STIL CEP290 TAPT1 CEP55 SIX5 MKS1 SCNN1A CEP83 FLNA BBS2 OSGEP PLVAP KMT2D LAMB2 PPP2R3C SMC1A TSC1 MICOS13 HNF1B TP53 FUT8 WT1 ZNF592 RFWD3 TMEM67 NPHP1 HLA-DRB1 BRAF BUB1 LPIN1 ELN TACR3 LRIG2 ITGB3 EMP2 PDSS2 NDUFV1 FREM2 SMOC1 LIPN PLD1 SLC2A2 FGFR3 ACSL4 PTPN11 SHANK3 KANSL1 ALPL SDHB PALB2 MYMK HNF1A KAT6A UMOD GPKOW SLC30A9 TREX1 WDR4 SNAP29 CCDC141 WASHC5 ND3 NPHP3 INS HPSE2 TSC2 NDUFS7 BUB1 CENPF SHH ERAP1 CEP290 COPA PEX12 EYA1 ANLN ZIC2 PLG SOX10 BRAF DLC1 ITGB3 FCGR2B ALMS1 NLRP3 ITGA8 PDX1 GANAB KDM6A NARS2 PQBP1 BBIP1 EVC CTLA4 AVPR2 TRNS1 H19 H19 BRCA2 AIRE NDUFS3 SDCCAG8 AKT1 CCND1 PBX1 HLA-DRB1 PGAP3 GPC4 ACP5 ARX CDC73 MAGI2 PEX16 ND1 IFT27 AHI1 OCRL RAB3GAP1 BBS1 TMEM127 TCF4 ARID2 NPHP1 PEX2 PIK3CA FRAS1 PIK3CA RAB3GAP2 CASR ETFDH WDR19 SF3B4 APPL1 FLII ACTN4 C1QA C4A FKRP AGPAT2 IQCB1 USP9X FANCC COLEC11 NIPAL4 WRN MEFV PKHD1 ZNF423 NTNG1 KIF1B TRNT1 PEX13 MMUT UBE2T DACT1 PEX1 DZIP1L ND5 SBDS ADGRG2 ABCG8 B2M RAI1 GATA4 LAGE3 NLRP3 BRCA2 ANOS1 IQSEC2 PKD1 SLC6A19 CYB561 WT1 CASR NUBPL MYLK TCTN3 TMEM216 TMEM231 STXBP1 NPHP4 CC2D2A IRF2BP2 KCNA1 KEAP1 SEC63 WT1 KYNU ERCC4 KCNJ5 OCRL FLNA VIPAS39 SOX4 PAX6 GLI3 CDKL5 SCNN1G SCNN1B FOXF1 INPP5E YAP1 RPGRIP1L POU6F2 CAMKMT NDUFA11 SIX5 SLC4A4 H19-ICR PORCN SLC7A7 TRIM28 CDKL5 GP1BA SI PUF60 GLIS2 GDF6 FIP1L1 NDUFS2 PIGW BMPER TMEM107 MAP3K7 COL5A1 TMEM216 AMMECR1 TBC1D24 COX20 IFT43 COG7 FANCI FAH SEC24C IL2RG CCND1 NUMA1 H19 NRAS FLI1 FGFR1 CA2 PAFAH1B1 CACNA1D NAA10 MKKS SOX11 REST TDGF1 HMGA2 GALNT3 PEX14 CORIN FANCA PRDM16 FOS BBS10 ARL3 GEMIN4 NDUFAF3 PIEZO2 TRIP11 HBB CAV1 STS FANCB RARB TBX15 MMUT ANTXR1 POLR3A BCOR SMAD4 UMOD LCAT EDNRB NOTCH2 SEMA3E ADAMTS13 PRKCSH AMMECR1 FASTKD2 SIX1 NDUFA6 SPP1 ALG8 GCM2 RPGRIP1 ATP7B CEP63 PEX1 KCNE5 ALDOB TRIM28 RPGRIP1L SNAI2 CCN2 FGFR2 TMEM231 GRHPR CPT2 FKTN LEMD3 PTPN22 COX1 COL14A1 ZEB2 WT1 CFTR KCNQ1OT1 C4A COQ7 TMEM237 CLDN19 FANCC EVC2 NDUFB9 LPIN2 RREB1 PDSS2 STK11 HESX1 PLAGL1 APC MYT1 CCDC22 GRHPR SCO1 SLC4A1 GDF3 RET PIGY TRIM32 PRKCD GSN PHYH COX10 TMEM126B DYNC2H1 FLT1 ADA BUB1B KNL1 CPLANE1 IFT43 CDC73 CLCNKB TREX1 PRTN3 COL3A1 FXYD2 FLNA BMPER MBTPS2 APC APC2 MME FOXI1 DYNC2H1 BBS9 WNT5A NDUFA1 NSD1 PEX7 NPHP4 TRNW RPL11 FLNB ND6 ABCC8 WDR35 FANCB TRNV ND4 INF2 GNAS WASHC5 SLC49A4 NDUFAF3 COL4A1 APRT ITPR3 ETFA ARHGDIA TACO1 SEC61A1 HNF1B CLCN5 TBX1 NEUROD1 ACTG2 NADK2 MSH3 GTF2IRD1 RAI1 SALL4 PML CACNA1S IFT140 GATA3 C1QBP NBN MAPKBP1 SPECC1L ADCY10 BMP4 PLCD1 SETD5 HPRT1 TMEM237 F10 MLH1 MUC1 AMER1 KIAA0753 TP53RK MAP3K7 NDUFAF4 HMGA2 HS6ST1 KDM6A CLCN5 FBXL4 ROR2 USP8 PGAP2 WNT4 KANK2 GLIS3 WDR34 CAVIN1 BNC2 GBA CFI SIX1 ZFP57 KCNJ11 FANCE FANCM MAX CASR RNF139 RAF1 NCAPD3 MAGED2 ZNF423 FLNA CFI HNF1B PGM3 AAGAB IL12A CYP11B2 ELP1 VHL FLCN SLC37A4 DZIP1L PIGN NCAPG2 SLC22A12 FH CLCNKB LRP5 CRTAP RBM10 NDUFB11 NDUFAF3 FAT4 IFT172 LRP2 DYNC2H1 TFAP2A INF2 STAT3 PTPN22 TRIP13 AKT1 ALOXE3 SGPL1 DHDDS SDHC TTC37 CTNS WDR35 GP1BB C1QB PDX1 EXT2 NUP107 SPART RRM2B OCLN ENPP1 FANCE COL4A3 PEX5 KCNJ10 PIGL RTTN MYO5B CYP27A1 BAP1 PAX2 PYGM WDR19 SETBP1 DCLRE1C RNU4ATAC FBN1 IL7R CEP290 PIGO COL4A5 PIK3CA NOD2 ADCY10 TMEM260 POR SLC2A9 MITF DYNC2LI1 NSD1 SLC35A2 TRNL1 WDR19 ITGB4 WAS SHH SMC1A NUP133 PGK1 NDUFS8 RET STAT4 GRIA3 IKZF1 HIC1 MYH9 KCNJ10 CACNA1D PCK2 RAD21 PEX19 HABP2 KLHL7 H19 CDC42 UBR1 HNF4A SCO2 ATP1A1 CPLANE1 ROBO2 TRAF3IP1 CDH23 WT1 NR0B1 ELP1 HSPA9 SLC3A1 POR KCTD1 DKC1 NUP133 ND3 IRAK1 GRIP1 MMUT ABCC6 MEFV UQCC2 SON KCNAB2 PTPRJ POLE ATRX B9D2 HOXA13 RBM8A PHF21A ATRX ARID1B CLPB HNF1B WDR34 RIPK4 TP63 HPSE2 NUP160 TRIM37 MBTPS2 STX3 AGPAT2 PORCN COQ2 FRAS1 LZTFL1 FH TGIF1 HMBS PHGDH C8ORF37 SALL1 WDPCP SCNN1B SLC25A11 PRKCD BBS4 COQ2 PIGA TMEM67 YY1AP1 NR5A1 CYP24A1 DICER1 CA2 IFT172 PMM2 NPHP3 GCK TTC21B DSTYK HGD PAH WDR73 GNAO1 ACTG1 NDUFAF5 SALL4 MKS1 NDUFV2 ALOX12B LAMB2 PREPL PAX2 WFS1 PPM1B INSL3 TRNL1 CEP290 HOXD13 COX8A EYA1 ALDH18A1 WDR19 WT1 WNT4 KAT6B PUF60 TCTN2 TRNF TBL1XR1 CLCN5 EP300 COX14 LIPT2 GLI2 ARX SLC1A1 DCC STRADA WT1 SLC6A20 PEX5 PTEN LEMD3 SNRPB C1QC BRCA2 GREB1L NOTCH3 CDKN1C ARVCF MST1 CFH TMEM237 B9D1 AQP2 PIGV TMEM127 SDHA IGF2 SULT2B1 CHST14 JMJD1C TFE3 PGAM2 ND5 FGF17 APC HSD17B4 NF1 CEP55 SDR9C7 TMEM138 SUFU ZIC3 SLITRK6 VDR TTC37 SHPK KIAA0586 TP53RK SMARCA4 NFIA BUB1B PEX2 BCS1L AIP HNF4A MOCS1 BCS1L MNX1 SDHB MEN1 XPNPEP3 CRB2 ERCC4 RMND1 LAGE3 VHL HNF1A FANCD2 NODAL XRCC4 ND1 NPHP1 CCNQ FGFR3 CHD4 PKHD1 ZIC3 KIF14 ITGA2B CTLA4 POMT2 PEX11B SDHD KRAS RAI1 ITGA8 INVS NPM1 SLX4 USP8 DVL3 CCDC141 NPHS1 DDX59 ACTG2 COL1A1 CHRM3 MDM2 IL6 HSPG2 FGFR1 BBS10 ABCC8 RERE MSH6 CCBE1 WDR60 PGM3 CEP135 MKKS BBS5 FANCL CLCNKA COX3 FOXF1 RBM10 IGF2 NUP93 SLC12A1 MASP1 POMT1 CDC73 PHEX INVS HLA-B MAFB COX2 ARX SOX9 DNAJC21 FAS BBS12 FREM2 OSTM1 IFT140 BTNL2 GPC3 SLC34A3 DNA2 TRIM8 PEX3 GDNF ACTB PTEN ZBTB16 GPC4 DICER1 PIK3CA ABCC6 PPARG KITLG SLC9A3R1 BCOR STAT5B NLRP3 SF3B4 COQ6 G6PC3 CSPP1 COL7A1 PHYH NPHP1 EPG5 SETD2 REN LIG4 MKKS POU3F4 STOX1 RFWD3 HYMAI NRIP1 HLA-B RAP1A CDK4 CPT2 GSN PCK1 ATN1 ALX4 FGFR3 SIK1 CEP164 SLC25A20 PIGL STAT4 ABCA12 XYLT2 CCBE1 FLNA AP2S1 PEX3 CFH RET PIGY LZTFL1 STAT1 KISS1R CASP10 RAD21 TRIP13 MYD88 GLA B3GLCT NOTCH2 FAN1 GLMN BSND RAP1B CC2D2A CLDN16 TMCO1 TNXB FGF20 THOC6 ENPP1 GCK ELN SMARCAL1 DNASE1L3 MCM5 FLCN MAX PALB2 MKS1 PKD2 CD46 DIS3L2 MITF TBCK RPL26 LMX1B PTPRO HDAC8 SPRY4 HOGA1 IL23R PIK3CA JAM3 ANOS1 NOTCH2 ND6 COG1 KYNU PROKR2 ADA ATP7A LMNA DLST ZAP70 UFD1 F2 EIF2AK3 STAT3 CC2D2A TMEM67 TGM1 APOE APOE WDPCP GNA11 RYR1 LMNB2 KCNJ10 SERPINH1 SDHAF2 RBM8A SOX9 CASK OFD1 APC PEX13 ESCO2 EHMT1 SASS6 TMEM231 TTC8 DMP1 CD2AP GCM2 TMEM70 TRRAP EYA1 KCNH1 TPRKB FAS DCDC2 TP63 TCTN2 SDHC APOL1 VPS33A LDHA DCC G6PC PRKAR1A THBD CISD2 TTC8 DCHS1 CHRM3 B9D1 AVPR2 RPS19 LRP4 NEK8 TFAP2A ARMC5 SLC12A3 FGFR2 TCTN3 PIK3R2 KMT2A CEL TP53 ARL6 MAP11 PAX1 TMEM216 TRIP13 AKT1 TMEM126B DPH1 SMARCB1 VAC14 TTC21B C8ORF37 TNXB SCARB2 PC DIS3L2 HNF4A NPHS2 NPHP3 WT1 COL4A3 TRNK WDR19 ADAMTSL1 PNKP UBAC2 AKT3 IL17RD RAG2 CTNNB1 NPHP1 CFTR CTNS ASPM AGT SARS2 RECQL4 ERCC8 MMACHC EBP PRKCSH CSPP1 FLCN STXBP1 TBC1D24 TMEM67 NIPBL CDON LYZ CDKN1C RASGRP1 FLRT3 CEP290 CENPJ BICC1 NSDHL DHCR7 TMEM231 NUP85 CTNNB1 CLCNKB WNT4 RPGRIP1L PEX19 ALG8 FGFR3 SOX10 FN1 DISP1 COX6B1 LMOD1 TPRKB TBC1D8B NOD2 CTH MFSD2A FANCF TBX18 ND2 KLF11 TAF13 SURF1 OPLAH IFIH1 WNT4 CILK1 MLXIPL BRAF CLIP2 DHCR24 POU6F2 SERPINA1 FLCN LARGE1 SH2B1 AGXT CDK5RAP2 CEP290 SHANK3 REST PGK1 NDUFS2 SDCCAG8 PRSS1 MSH2 SRP54 IFT172 TBL2 ALMS1 DNASE1 PLEC DMRT3 KRAS SLC17A5 NPHP3 CSPP1 IL12A-AS1 NABP1 TSC1 FH FANCG MEOX1 TCN2 DSTYK SFTPC PDE6D SLC29A3 B4GAT1 COMT CD151 SLC26A1 CLEC7A MCPH1 SKI WWOX HPRT1 GPC3 SRCAP WDR62 SLC7A7 IFT122 TBX22 APRT CLCN5 SPECC1L FLCN TRNH PEX10 ARID1A PIEZO2 PHC1 NUP107 CASR GP1BB CHN1 MAFB TRNL1 SOX17 BBS1 CPT1A KMT2A RAD51 FREM1 NDUFS1 GABRD FREM1 GP1BB SKIV2L WDR11 OSGEP MRPS22 DIS3L2 KIAA0753 NDUFS4 TRPC6 CD96 SC5D SDCCAG8 FANCB PAX4 SLC26A4 VHL NSMF NEK1 TRNS1 NPHP1 CAD OFD1 XRCC2 FOXC2 PEX10 FIG4 PCSK9 FBLN5 INTU GNA11 ANKS6 NIPBL WT1 COL4A1 IFT80 KCNJ1 HAAO VHL NDUFS6 HPRT1 HNRNPU ATP6V0A4 LMX1B CIT CDC73 TRNW PRCC YWHAE CDKN1B KYNU C1QA GDF6 TIMMDC1 TSC2 KLRC4 KIF1B DICER1 FOXRED1 ADAMTS3 PLG USP9X GLI3 RBBP8 WT1 POGZ WNT3 RSPO2 IFT80 CEP290 FANCB TMEM216 SMARCE1 FASLG PAX2 CREBBP SLC7A9 NDUFAF2 CTRC LTBP4 XYLT1 SPINK1 C3 PRDX1 WDR73 ERCC6 FGFR1 ANTXR1 TMEM67 DPF2 BAZ1B EHMT1 COA8 BSCL2 SLC34A1 INS KIF7 PROK2 NUP133 ABCC8 SMS NXN RERE IQCB1 DACT1 DLL4 ATRX CPT1A FGFR2 AQP2 IL17RC PIGQ ATP6V1B1 TMEM107 SMC3 FN1 CC2D2A CFB PTPN11 ARNT2 CPT2 ITGA2 RARA EP300 HELLPAR PMM2 PEX7 GNB1 MECP2 FOXG1 C3 IFNG MDH2 PIGP PRODH TRNK IRF5 ENG CTNS TALDO1 NPHP3 SLC4A1 ALDOB JAG1 DEAF1 NEUROD2 MAFB TSC1 EIF2AK3 H19 IGF2 OFD1 KCNQ1 ACE LMX1B GNB1 TRIM32 ANKLE2 PTCH1 PEX26 BUB3 COL25A1 AMMECR1 NAA10 SLC34A1 TRAF3IP2 TCTN3 WFS1 TRAF3IP1 LIG4 CEP120 ZNF148 SRY FEZF1 PREPL DNASE1L3 FAM149B1 FLNA HMOX1 SETBP1 MOCOS CEP164 FOXH1 MBTPS2 RAB18 HNF4A PIGN H19 HOGA1 CCND2 BBS12 TMEM138 ABCG5 CFHR1 GDF2 TSC2 KCNJ11 SOX18 NUP107 DHODH FUZ RAG1 TREX1 ERBB3 LMNA LMNB2 PEX1 SRC ARL6 PIGT FOXP3 ITGA6 PPP1R15B HDAC4 INPP5E SLC5A2 CHD7 PDGFRB ARL6IP6 CEP120 NSUN2 TRNS2 TMEM67 MED25 SLC34A1 TBX3 NELFA NPHS1 CAV1 HPS1 FOXE1 LIMK1 FGFR2 CCDC28B CFHR3 BBIP1 SC5D PTCH1 FAS PEX12 DHCR7 AGXT TMEM231 ND1 TLR4 PIGN PROKR2 SLC12A3 CD109 NRAS TBX1 CDKN1B CHD7 AGTR1 FGF8 SNRPB WNT3 FGFR2 MGME1 KLLN SLC3A1 PEX6 PPP3CA KIF14 SEC23B GPC3 CD46 ADA2 HRAS SEMA3E PRPS1 SALL1 CHD7 BRIP1 FANCL BBS4 COL4A3 SDHB CEP152 CIT CEP57 TBX1 PLCD1 CPT2 LEMD3 PIK3R2 MOCS2 IARS1 ABCC6
Infertility
Genes 206
DNAH9 SNORD116-1 VAMP7 DNAH11 HJV PGR AXL SPAG1 PMFBP1 AR ADGRG2 SOX9 SEMA3E DNAAF3 GAS2L2 CCDC151 OTX2 STRC CFAP300 ZP3 ZMYND10 GATA4 HSD17B3 MKRN3 PMFBP1 DNAH1 CATSPER2 FSHB RSPH4A CFTR DUSP6 TEX11 NME8 DNAAF4 CEP19 SRY CCDC65 NR5A1 PROP1 HESX1 CFAP300 DNAI1 CDC14A MAP3K1 NR3C1 RSPH1 DNAH1 CCDC39 PWRN1 DNAL1 PATL2 GBA2 ZMYND10 LRRC6 FOXA2 QRICH2 CTNS DNAAF1 ZFPM2 GAS8 CFAP298 CFAP298 HSD17B3 CDH23 RBMY1A1 NR3C1 CATSPER2 GBA2 RNF216 ZP2 RSPH3 DNAAF2 PLCZ1 CCNO SRA1 DNAAF1 CCDC40 ZP1 TSGA10 DMRT3 DNAAF4 SNORD115-1 DNAH9 DNAI1 SRY DNAAF6 DNAH5 GCM2 DHH AR TTC25 FCGR2A FOXL2 SPEF2 IL17RD DNAAF5 HERC2 TEX14 CYP19A1 WWOX SNRPN AMHR2 ARMC4 FLRT3 NANOS1 IPW STRC SOHLH1 FANCA PROP1 DAZ2 MEI1 NPAP1 LMNA WDR11 HUWE1 CFAP221 KLHL10 PLIN1 DNAI2 TLE6 AMH PANX1 LHX4 GLI2 PRLR POLR3B WEE2 PADI6 DNAAF5 DAZ4 POU1F1 ARMC2 FGF17 STUB1 FOXJ1 SUN5 CFAP43 MAP2K1 CCNO FEZF1 DAZ3 TSPY1 RSPH1 DNAJB13 STK36 BRAF AURKC USP8 DNAH1 RSPH3 RSPH9 FSIP2 DRC1 LHCGR WDR66 CCDC103 TUBB8 AR DNAAF3 NDN LRRC56 LRRC6 MAGEL2 CCDC40 SOX3 MKRN3-AS1 SPRY4 DDX3Y PWAR1 SLC26A8 USP9Y DNAAF6 STRC GAS2L2 TGFB1 GNRH1 SPATA16 CCDC39 CDH23 PRLR H6PD WT1 NR0B1 OFD1 CFAP44 BRDT ZMPSTE24 MEIOB DNAI2 SEPTIN12 GNRHR CFTR CCDC141 PTPN11 CCDC114 DAZ1 PPP2R3C DNAJB13 RPGR CATSPER2 AK7 SUN5 CATSPER1 MCIDAS HYDIN
Colon cancer
Genes 59
TP53 TRIP13 COL14A1 SMAD4 BRCA2 MLH1 MSH6 HABP2 PMS2 APC BUB1B PALLD BUB1 GREM1 NTHL1 PMS1 MSH6 AXIN2 APC EPCAM BUB3 MSH2 APC KRAS TGFBR2 FAN1 MINPP1 APC MSH3 SH3KBP1 TP53 KRAS AAGAB SMAD4 BMPR1A MSH2 BMPR1A MLH3 MSH2 PALB2 MUTYH FLCN PIK3CA BMPR1A FOXE1 MSH2 SMAD7 MLH1 CEP57 MLH1 BRCA1 RPS19 PRKAR1A PMS1 APC CDKN2A APC MLH1 APC
Spontaneous abortion
Genes 70
MTMR14 DNAH9 CCDC103 DNAH11 DNAAF3 LRRC56 LRRC6 GAS8 SERPINC1 CFAP298 SPAG1 CCDC40 ARMC4 F13A1 HOXA13 GAS2L2 CCDC151 XIST MYF6 HTR1A DNAAF2 SYCP3 JAK2 RYR1 CFAP221 ANXA5 DNAAF1 RSPH4A OFD1 NME8 DNAAF4 DNAI2 CCDC65 MPL THPO BIN1 CFAP300 FOXJ1 ALB DNAI1 WRN DNM2 DNAAF6 FGG CCNO DNAH5 CCDC114 RSPH1 CCDC39 STK36 FGA F2 DNAJB13 RPGR MGP TTC25 DNAL1 DNAH1 ZMYND10 RSPH3 RSPH9 FGB SPEF2 DNAAF5 F13B DRC1 GPHN F5 MCIDAS HYDIN
Non-Hodgkin lymphoma
Genes 32
ATM FAS CASP10 CTLA4 FAS BCL10 CD28 BIRC3 FOXP1 TNFRSF1B MYC CCND1 ASXL1 ATM MALT1 CTLA4 CD28 SRSF2 KIT POLE IGH ADA TET2 FASLG PIK3R1 NTHL1 RASGRP1 TNFRSF1B PRKCD NBN RHOH IGH
Male infertility
Genes 52
VAMP7 ZFPM2 AMHR2 PMFBP1 ADGRG2 SOX9 RBMY1A1 DDX3Y STRC STRC FANCA CATSPER2 GATA4 DAZ2 USP9Y STRC TGFB1 PMFBP1 DNAI2 WT1 NR0B1 CATSPER2 CFTR AMH TEX11 SRY DMRT3 DNAAF5 DAZ4 ARMC2 NR5A1 DNAI1 SRY CFTR MAP2K1 MAP3K1 PTPN11 DAZ3 DAZ1 TSPY1 PPP2R3C BRAF AURKC GCM2 FCGR2A CATSPER2 SUN5 CATSPER1 LHCGR CYP19A1 CTNS WWOX
Chronic kidney disease
Genes 119
SOX18 SLC7A7 IFT122 TMEM67 UMOD NPHP4 SGPL1 TMEM67 NUP160 CTNS CORIN NPHP3 NUP133 NUP107 LZTFL1 LAGE3 NUP107 STOX1 INF2 PLCE1 SDCCAG8 IQCB1 COL4A3 WT1 APRT ARHGDIA XPNPEP3 SEC61A1 GSN HNF1B ANLN PAX2 NUP85 WDR19 TMEM231 CLCN5 NPHP4 OCRL DCDC2 OSGEP KYNU TRPC6 NPHP1 CEP290 IFT172 COL4A5 FN1 NOD2 APOL1 REN GATA3 MAPKBP1 NEK8 TPRKB WDR19 TBC1D8B INVS SPRY2 LAMB2 PAX2 NPHP4 CTNS MUC1 COL4A4 CFH TP53RK MYO1E ALDOB CEP290 JAG1 FAN1 WT1 SAA1 CFHR5 CLCN5 TMEM126B GLIS2 MAGI2 CEP83 CLDN16 CLDN19 TTC21B CLCN5 AHI1 SH2B1 AGXT CEP290 BNC2 LAMB2 NUP93 TRAF3IP1 NPHS2 NPHP3 COL4A3 PKD2 INVS NPHP1 WDR19 TMEM67 NPHP1 RAD51C DNAJB11 DGKE WDR19 ACTN4 TRAF3IP1 IFT140 IQCB1 MMUT DSTYK DZIP1L SARS2 FLT1 NUP205 CEP164 COQ8B IFT43 TTC21B CD151
Anemia
Genes 722
GTF2H5 PIEZO1 ERCC6L2 TNFRSF11A HBA2 MECOM RPL18 EPHB4 SBDS RPL35A BIRC3 FERMT3 COX15 ATRX OPA1 NFKB1 CTC1 JAK2 CASP10 NLRP3 TET2 TYMP GREM1 ZBTB24 ATRX LAMA3 FAM111A RFX5 SLC40A1 RMRP SF3B1 SBDS HBB RASGRP1 KIT HYOU1 CASR PRKCD ENG SURF1 HBB HBA2 COQ2 PIGA NPHP4 SLC19A3 IRF2BP2 HMGCL FANCG TNFRSF4 PEPD CA2 EPB41 HBA1 TERC ERCC4 ABCA1 WAS MARS1 REN KLF1 TCIRG1 BMPR1A HBB PARN GBA COX6B1 ENG COL7A1 PLA2G4A TBCE IFNGR1 PKLR RPS14 FANCF RPL15 TNFAIP3 TINF2 NRAS LARS2 WFS1 RFXAP ADA2 RPS7 IL2RB SURF1 COX8A MMAB RPS7 IL12B RPS17 SMAD4 ALG8 SLC7A7 SLC19A2 SLCO2A1 HLA-B CD3G ORAI1 TBL1XR1 DHFR STEAP3 FIP1L1 SLC4A1 SPTA1 COX14 PRF1 AGXT TF COL7A1 SPTA1 SAMD9 ABCD3 KCNN4 PGK1 NDUFS2 CIITA SEC23B BCOR NDUFS1 PET100 NPM1 ITK SRP54 BPGM STX11 SLC4A1 SLC46A1 DNASE1 COX20 PLEC PLEC RPS28 NABP1 CALR CLCN7 RAG2 CDAN1 PHKG2 TNFRSF13C HBG1 CFH RPL31 FANCG FCGR2A IL2RG NDUFAF2 COG6 CCND1 SLC11A2 PHGDH NUMA1 IFNG SPTB ITGB4 RPS26 GATA1 HPRT1 ELANE RPS27 SLC29A3 ISCU MMP1 HELLS CA2 FLI1 SPTB STAT3 POLG KRAS RHAG SPTA1 STIM1 ATP7B SLC7A7 ITGA2B RPL11 SHPK HBB-LCR GP1BA FOXP1 EPB42 COA8 GYPC MYSM1 MPL RPS26 FANCA LAMB3 ALAS2 ACVRL1 MPLKIP AMN ABCB7 GATA1 NHEJ1 TPP2 GBA HBB LRBA DNMT3B SDHA ALAS2 CP FANCB EFL1 FECH RAD51 PRKACG C1R MMUT RMRP DBH FANCD2 PFKM CLCN7 SMAD4 TACO1 XRCC4 LCAT NPHP1 PRF1 NLRP3 SMAD4 SNX10 TTC7A FANCB RPL5 ADAMTS13 BRCA1 COL17A1 RTEL1 AMMECR1 PACS2 FASTKD2 ALAD AK1 HBB NDUFAF5 SMPD1 SPP1 HBA2 NDUFB8 IDH1 HBB ATP7B CTLA4 GATA1 GATA1 CAD NPM1 SPTB SLX4 XRCC2 FTCD MPL SRD5A3 FOXP3 CD59 NHLRC2 DCLRE1C PSMB8 PSMB4 GCLC KIT MTR TMPRSS6 SP110 SMAD4 HBA1 RPL5 NDUFA12 EWSR1 NDUFA13 PGM3 FANCC IDH2 SLC46A1 LPIN2 FANCL TP53 UNC13D AGGF1 STK11 GTF2E2 C1QA TGFB1 RPL35 APC GSS GPI WRAP53 BTK DGKE PDGFRA DNAJC21 FAS SCO1 MTFMT TINF2 ABCB7 RPS29 ITGB3 CD81 EPB42 DKC1 OSTM1 STK11 IFT140 PRKCD RPS19 SAMD9L BTNL2 SPTA1 COX10 RPL15 NLRP1 HBG2 NLRC4 RPS15A CRIPT SDHA PHGDH GLA TNFSF12 ACVRL1 ADA SPTA1 ZBTB16 FASLG CTSK STIM1 FOXRED1 KLF1 COL7A1 CLCNKB SFXN4 HBB COX4I2 SLC25A13 RAD51C DNAJC19 RMRP ANK1 STAT5B C3 GATA1 PRDX1 G6PC3 COL7A1 RPL35A YARS2 DDX41 BCL10 NDUFA4 NPHP4 ERCC2 AK2 CLPX HBA1 COA8 ECHS1 RPL11 MS4A1 FASLG LIG4 TFR2 NFKB2 FANCD2 PUS1 TBXAS1 TARS1 AASS IREB2 KIF15 RFWD3 ATRX TERT NDUFAF3 PLEKHM1 HBA1 PTEN UROS WIPF1 HBA1 ATRX NDUFS3 RHAG NOP10 LIPA LMBRD1 THRA GBA TRNT1 HLA-B HBD TACO1 IRX5 RPL27 SEC61A1 TNFSF11 SLC19A2 HBG1 NHP2 PCNT ALX4 BMPR1A NDUFS4 PTPN22 TRNN CD55 STAT4 HK1 PML ANK1 FANCI NT5C3A BMPR1A UMPS NDUFS7 G6PD CFB LAT LYRM7 ERBB3 PARN NBN HSPA9 TET2 RARA LARS1 RNF113A MAD2L2 HELLPAR TEK ATP11C BRCA1 ICOS RFXANK ELMO2 GATA1 TNFSF12 ELANE PTH1R GLRX5 USB1 EPO CFH FAS SMARCAL1 SBDS LYST HPRT1 FMO3 RPL26 TTC7A ENG FANCA STAT1 MUC1 PCCB TALDO1 HPGD SLX4 CASP10 TET2 RAG2 TERT SLC4A1 MYD88 GLA PKLR ACD TNFRSF13B KDM6A CLCN7 PTF1A ACVR1 RPS10 HAMP SAMD9L FARSB CPOX RPS10 NDUFS2 DNAJC21 SMARCAL1 VPS45 KMT2D TGFB1 GBA PALB2 CFI GCLC PUS1 TALDO1 HBB SRD5A3 PIGT CD46 FANCE FANCM TMEM67 SLC4A1 NPHP1 DNM1L SLC2A1 RPL26 CFI WFS1 RAG1 LIG4 UMPS CASK PGM3 ADAR PSMB8 PDHA1 SNX10 MTRR DKC1 PNP WT1 HMOX1 COG1 CR2 STEAP3 ADA COL7A1 FARS2 LAMC2 ZAP70 CUBN ALPL F2 ETV6 TCN2 STAT3 NBN RPS15A CFHR1 GDF2 ITGB4 CD19 HMGCL UROD TNFSF11 MMADHC TCIRG1 FECH NDUFA2 ABCD4 TREX1 RAG1 PSMB9 COL4A1 CDCA7 TF RBM8A KRT14 SDHC TERC EXT2 LPIN2 RAG1 TFRC EFL1 TSR2 PFKM HBB RPS29 FOXP3 FANCE CLCN7 CTC1 SDHB LYST KIF1B PNPO TBXAS1 HAVCR2 ABCG8 MMAA NDUFAF6 TRNW FAM111A DCLRE1C FAS HBB TERT RPS27 NSUN2 CTLA4 XIAP PLEKHM1 IL7R NOD2 GSS VPS33A HBG2 NDUFA10 PRKAR1A FCGR2B EPB41 RAG1 NDUFV2 HBA2 THBD CISD2 ERCC3 TERC NDUFV1 SLC4A1 GNA14 GALT SLC2A1 ZBTB20 CFHR3 TRNS1 RPS19 STAT1 ANK1 BRCA2 AIRE RPL27 SLC25A38 WAS IL2RA PGK1 HLA-DRB1 LIPT1 HBB RPS24 FDX2 ALDOA IKZF1 PRKCD RPS24 LAMA3 ATRX KCNQ1 DAXX UBE2T SH2D1A SLC12A3 ACAD8 MVK DNAJC19 MTHFD1 UBR1 ADA2 RHAG LAMC2 SCO2 MPIG6B SCARB2 CHD7 IGH OCRL NDUFA9 ALAS2 C15ORF41 RPS14 GPX1 SMARCD2 STING1 HBA2 CD40LG CD46 CBLIF TINF2 SRP54 DKC1 TPI1 ABCB6 GATA1 ACTN4 RECQL4 PSAP RAG2 IRAK1 BMPR1A HBB MAD2L2 NFKB1 PET100 FANCC TSR2 MALT1 UROS BRIP1 FANCL PHKA2 TCIRG1 YARS2 ABCA1 SARS2 MTRR FERMT1 RPS17 PCCA PNPO GBA MMP1 TRNT1 APOA1 MMACHC CP LAMB3 TET2 RPS28 MMUT STIM1 UBE2T RTEL1 RRM2B KIF23 TERT KCNE1 NDUFS8 PHF21A MLX
Allergy
Genes 21
CHD1 TGM5 ADA PLA2G7 MTOR FOXP3 PGM3 CARMIL2 SIK3 CCDC28B BBS1 NRXN1 IL4R COX4I2 MS4A2 PLCG2 SPINK5 CSTA CNTNAP2 RBM8A PGM3
Portal hypertension
Genes 62
CLDN1 TMEM67 GDF2 MPL HLA-DRB1 SHPK F5 GBE1 SP110 MLXIPL ARHGAP31 JAK2 TET2 CC2D2A EOGT FARSB ADA2 JAK2 ACVRL1 NEUROG3 GLIS3 POU2AF1 GDF2 STN1 DLL4 NPHP3 RBPJ TCF4 INPP5E NOTCH1 IL12A PIGM DOCK6 RPGRIP1L SMAD4 SPIB ELN CALR DGUOK DGUOK RPGRIP1L MST1 DCDC2 BTNL2 PKHD1 TET2 ALMS1 TNFSF15 DLL4 SLC30A10 IL12RB1 IRF5 MMEL1 ITCH MPL GPR35 ENG TMEM67 JAK2 CC2D2A TJP2 TNPO3
Depressivity
Genes 377
AMACR BAZ1B PDCD1 PRKAR1A KCTD17 AFG3L2 DNAJC13 NSMF PRPH TBP DNA2 TOR1A UBQLN2 MED25 WFS1 TRNL1 ADH1C ND4 GNAS RFC2 FGF14 HMBS PLA2G6 SPAST PRKCG HTR2A SQSTM1 ATRX GABRA1 FGF8 FUS CLCN4 LMNB1 CLN6 TRNS2 GDAP2 PON2 GSN SNCA FAN1 XK TWNK PTS TRNQ RPS6KA3 TBX1 GLT8D1 OPTN PINK1 GTF2IRD1 NHLRC1 GBA TRNN PANK2 CRBN GNRH1 PSAP NDST1 GLUD2 SOD1 DNAJC6 LRRK2 DNMT1 PDE11A TAC3 DRD2 MAN1B1 HTT AP2S1 SPRY4 PGAP1 CBS SQSTM1 TOR1A AIMP1 TUSC3 PDGFB TWNK FMO3 SLC20A2 MECP2 CACNA1G CDH23 C9ORF72 FUS GPR35 TARDBP C9ORF72 HIRA IDUA HLA-DQB1 PRSS12 C9ORF72 CLIP2 PIGC HNMT JRK TRNF PAH CLRN1 ATXN2 CPOX CEP78 MSTO1 ELN CLCN4 CISD2 PROK2 PDGFB SGCE SLC6A4 KCNT1 PDGFRB UCHL1 MATR3 GABRG2 SMPD1 PRNP GNRHR KISS1R COQ2 HS6ST1 TNIK NEFH MAPT C9ORF72 ATP13A2 PARK7 NSUN2 SLC25A4 CCNF ANXA11 HLA-DQB1 TBL2 CPOX SNCAIP FIG4 TARDBP NOTCH3 LINS1 VAPB BMPR1A ARVCF SLC18A2 C19ORF12 MAPT ATXN10 POLG SLC45A1 KDM5B MST1 SEC24C B3GALNT2 MLH3 PPT1 FRRS1L JPH3 WDR11 PODXL ND6 ARMC5 HTRA2 AIP CRADD TTC19 MED23 ZC3H14 JMJD1C PRNP USH2A ATP1A3 TRNS1 ND5 EDC3 COASY UNC13A COMT UFD1 VCP POLG FMR1 PMS1 FMN2 PRNP PRNP CHD7 DCPS METTL23 DCTN1 TRNL2 GBA PPP2R2B ATP7B GTF2I USH1G PTPN22 SRPX2 TACR3 TWNK GNA11 TMEM106B SNCA CSF1R MLH1 TRNH PMS2 CLIP1 POLG2 ATXN8OS CASR VPS13C PON1 RSRC1 PPOX VCP HLA-DRB1 EZR DUSP6 BCS1L DCTN1 EHMT1 TRNL1 PRNP PDZD7 MSH6 MAPT EPHA4 POLG THOC2 CRKL CYP27A1 PLA2G6 ANG CC2D1A DCTN1 MYO7A CACNA1H HTT DNAJC5 COQ2 GRIN2A GP1BB DGUOK PRKN CHMP2B KRAS ARSA NR4A2 HNRNPA1 CHMP2B WASHC4 TRNS2 ATXN10 MSH2 CFAP410 PFN1 HMBS CACNA1G GNAS MYO7A SLC2A1 PINK1 POLG C9ORF72 PSEN1 ANOS1 PIK3CA ALMS1 TBC1D7 VCP TRNS1 PANK2 GBA TK2 LIMK1 CHCHD10 XPR1 PPARGC1A RPS20 USP8 ST3GAL3 ARMC5 HARS1 KCTD17 TAF15 AARS2 PER3 FGF14 CTSF TBP MECP2 MBOAT7 POLG PAH TREM2 USH1C TREM2 COX1 TBK1 C12ORF4 WARS2 STX16 ATXN8 SGCE ND1 ATXN8OS PRKACA TBK1 ARSG MAPK1 ATXN2 GRN ABCA7 OCRL KCNJ2 TRNW CHCHD10 COX3 RREB1 DAO GIGYF2 GPR101 TECR CDH23 ATP1A3 EPCAM ADGRV1 GNAS TCF4 GNAS GABRG2 PRNP KISS1 TGFBR2 SEMA4A TWNK GCH1 CIB2 COX2 FGFR1 PCDH15 WHRN LRRK2 TRAPPC9 RRM2B FMR1 RRM2B WFS1 FA2H FGF17 HBB PDGFRB SARS1 BCR EIF4G1 POLG ERBB4 GLA PER2 FBXO31 PON3 GLE1 PROKR2 VPS35 NEK1 MSTO1 LMAN2L GNAS DNMT1 GABRB3 CP TBX1 EPM2A PDGFRB GRIK2 SNCA VCP
Abnormal circulating lipid concentration
Genes 286
CYP11A1 PEX1 LDLR UBR1 APOB BAZ1B PEX7 PNLIP CCDC115 ABCG8 CYP27A1 BSCL2 HNF1A CIDEC AGPAT2 LMNA RAI1 POU2AF1 GHR IQSEC2 RFC2 HMBS LIPE PEX12 BSCL2 ACADM MYO5A APOB SLC25A13 STXBP2 MSMO1 TRMU UBE3B NSDHL CPT1A SLC37A4 DHCR7 CEP19 EMD LMNA ACAD8 SLC25A20 NADK2 TMEM199 NSMCE2 GTF2IRD1 RAI1 TDP1 NGLY1 ABCA1 PMM2 POLD1 OCRL EBP BSCL2 TFG TNFSF15 LCAT HSD3B7 PLA2G4A DYRK1B PCSK9 DHCR24 PYGL TRNK TRNL1 NPC2 ABCC8 CTNS NADK2 LBR ACOX2 PIGH SLC7A7 CYP7A1 TMEM43 JAG1 DEAF1 LEP CLIP2 LMNA PEX5 NPC1 ELN CAV3 FHL1 PRF1 PLVAP FLCN CAVIN1 CETP SMPD1 PNPLA2 PRSS1 LEPR LRP6 APTX LPL STX11 TBL2 ALMS1 LDLRAP1 APOA5 BSCL2 DCAF17 PNPLA2 ZMPSTE24 SLC22A5 PIK3R5 SPIB RSPO1 PHKG2 SLC52A1 ABCA1 CFH PEX26 SETX SLC37A4 EPHX2 LIPC PPARG PEX13 ACADL PEX12 IL12RB1 ABCA1 SLC29A3 ACADM LMNA ANGPTL3 MMEL1 LMNA PLIN1 MTTP SAR1B CAVIN1 PEX3 PEX2 CYP19A1 TNPO3 ABCG5 DGAT1 TTPA SMPD1 CFHR1 LDLRAP1 GTF2I ACADVL HMGCL APOE FECH SGPL1 LMNB2 GPD1 PSMB9 TDP1 LMNA PEX6 NUP107 APOA2 CAV1 NUP107 AR FOS ZMPSTE24 TBXAS1 LMNA UCP2 CIDEC MEF2A PLIN1 PEX5 PPP1R17 ABCD1 CAV1 XRCC4 PEX10 PEX5 ADCY3 HAVCR2 ABCG8 CPT1A CYP27A1 APOB APOC3 LIPA LMNA PEX2 POLR3A TRNE FBN1 PEX10 PPARG XRCC4 ACAD9 LIPA LCAT SYNE1 LCAT DCAF17 SC5D AKT2 G6PC NPHS1 ACADVL ALMS1 LMNA LTC4S CETP LIMK1 PEX11B RAI1 GK APOC3 CCT5 CFHR3 TRNE PCSK9 ALB APOA5 SLC25A13 DHCR7 PSMB8 PSMB4 CPT2 LIPE APOC2 LDLR KCNJ1 SAR1B AGL CAV1 ACAD8 PEX19 CFTR HNF4A COG4 XIAP GHR OCRL LPL SLC12A1 UNC13D CYP11A1 PEX14 HADH NPHS2 POLR3A TANGO2 PEX1 PEX16 IL12A ZMPSTE24 PEX7 PHKA2 RAB27A FLII ACTN4 PHKG2 PANK2 AGPAT2 PHYH GPIHBP1 ALB PEX19 KCNJ11 ABHD5 LMNA PHKA2 GYS2 ABCA1 GLA MC4R SYNE2 LMNA SLC25A13 IRF5 PLA2G7 CTRC APOA1 EBP PPARG SLC25A13 AGL SPINK1 DLD
Renal Fanconi syndrome
Genes 23
COX14 COX20 COX6B1 SCO1 TRNN FAH HNF1B CLCNKB COA8 TRNS1 HNF4A PET100 COA8 SLC12A3 BCS1L COX10 OCRL CTNS TACO1 HNF4A FASTKD2 CTNS COX8A
Vasculitis
Genes 78
HLA-DPA1 IL12B IFIH1 TLR4 PTPN22 CASP10 CD19 MYD88 PTPN22 STAT4 CCR1 MVK PRKCD TNFRSF13B MS4A1 SLC22A4 HLA-B TREX1 FASLG ARPC1B C4A NFKB2 ADA2 CD244 OTULIN PGM3 CASP10 PTPN22 NLRP3 SCN9A LMX1B PADI4 ERAP1 WIPF1 SCN11A TNFRSF1A CIITA RASGRP1 HLA-DPB1 IL10 MEFV PRKCD KLRC4 IL10 CFI UBAC2 HLA-B FAS VPS13A C4A CD81 FAS NFKBIL1 IL12A-AS1 PGM3 IL12A IL23R TNFRSF13C NOD2 DNASE1L3 WAS NFKB1 DOCK8 PNP SAMHD1 MEFV TNFSF12 CR2 SCN10A ICOS FASLG CTLA4 TNFSF12 PRTN3 FAS FAS WAS MLX
Hearing impairment
Genes 2020
ALG13 LETM1 UBR1 FAT4 TGM1 ESRP1 RNASEH1 TRNS2 ORC1 RHO KCNJ10 RP1 HGF TRNS1 PIGL EYA4 GLI3 CATSPER2 PAX3 NDUFAF4 SDHD LRP4 DNAAF4 NDUFB10 MYH3 FAT4 SLC18A3 EPS8L2 ARL6 RDH12 ARL3 PSAP TXNL4A GJB2 TAC3 GRAP RAB23 ARL2BP ASXL1 PRPF31 PNPLA6 GBA2 POLG IGF1 PTDSS1 MYH14 ERCC5 CCDC50 HIRA SLC19A2 GAS8 SIX1 AIFM1 CEP57 SOST MCTP2 NRXN1 COL11A1 PNPLA8 CLRN1 COL4A6 KCNH1 RAB3GAP2 COL11A1 BUB1B TAF1A OPA1 SEMA3C NECTIN1 MFN2 NEFL LHX1 HLA-DPB1 KAT6B DNAAF1 NDUFS1 PCLO PET100 SF3B4 LAMB1 ARSL PSMD12 NOTCH3 RAI1 YAP1 PIK3C2A PRPS1 TMC1 PRPF8 EYA4 B3GLCT PDZD7 NDUFAF2 CLCN4 SH3TC2 ESRRB SDHC CERT1 GJC2 MRPS22 ECHS1 COL9A3 HSPD1 LONP1 KIT GTF2I CDC45 MID2 TMEM126A IARS2 TMIE COA8 FAM20C RET PRPF6 RPS26 ZNF408 KCNQ1 TRMU ERCC2 PEX1 GABBR2 RECQL4 MED12 BEST1 SLC52A3 ND4 SDHA ND2 DCHS1 POLR1C DPF2 BBS7 ACY1 TRNE EXT1 CLPP FGFR3 CHD7 IGBP1 SRP72 UFM1 BRCA1 ANOS1 LETM1 NDUFB8 WNT10B KCNC3 TRPV4 TMPO GJB2 MAK ARID1B GNAI3 GATA3 MYH6 HARS1 COX15 DAB1 GPC4 ERCC5 MED12 CDH1 DLG1 FAM161A HESX1 LRRC56 RPS23 NEBL NOG DUSP6 NDUFA12 EDN3 MFN2 FGFR3 SEM1 TBL1XR1 SLC52A2 MRAS SMARCC2 GTF2E2 PIGA TGFB1 CNKSR2 GJB2 ATRX TWNK DNAI2 SLC44A4 MTFMT APC AFF4 FLNA TFAP2B ABHD5 SOX10 ALX3 SPATA5 GLA CCDC114 NDUFAF1 TCOF1 KCNJ11 CDC45 STRC TRNK ATP6 RAD51C POGZ HYDIN IL1RAPL1 DNAH11 FRG1 PSEN1 NDUFB3 SON ERCC2 PDE6D PAX3 NSMF FANCD2 LMNA KMT2D GJB6 SOS1 NEXN TBX15 ATRX RFC2 NDUFS3 PIK3CA EDN3 RSPH4A PTH1R TRNQ TRNN IDS MFN2 ALG12 GDF6 FIBP FANCI ATP6V1B2 FGFR3 TNFRSF11A COL11A2 SMCHD1 RLBP1 NSD2 ANKRD1 MAD2L2 EDC3 FGFR2 AGTR2 TRNK ERCC3 SEMA3A ORC4 AHR LHX3 ACTC1 DMP1 FGF3 LARS2 RDH12 CDH23 PEX14 FGF10 FANCA USH1C COL4A4 HLA-DPA1 IL17RD TARDBP ANKRD11 PSMC3IP SLX4 IDUA STAG2 PDZD7 TRNW CLCN7 EPS8 BTD GJB3 SIX5 FLNA ATP6 BBS2 BTD GBA2 TRNE CISD2 LSS DNAAF2 CDH1 KMT2D NF2 PPP2R3C EDNRB BBS2 SOX10 MICOS13 TPRN SLC25A4 PERP NALCN BRAF SLC29A3 ELN TACR3 COL11A1 NDUFV1 CERKL FGFR3 ACSL4 PTPN11 SKI IFT140 FARS2 SHANK3 USH1C DCC VPS13B SDHB SMAD4 MORC2 TWNK DLX5 SNX14 USH1G AKT1 ZNF469 SNAP29 CCDC141 SNAP25 ND3 POLG2 ERCC6 INS PLXND1 NDUFS7 BUB1 TELO2 HGSNAT ST3GAL5 FGFR1 SYP CEP290 PEX12 EIF3F FOXI1 EYA1 GJB6 PIGO SLC25A24 PAX3 SOX10 DMD GJA1 KCNQ4 ITGB3 CRX KLHL7 POLR1C TNNC1 SCN1A ALMS1 AIPL1 FTSJ1 FGFR3 GLB1 PEX5 KDM6A ERCC3 NARS2 PQBP1 BBIP1 CTLA4 MYPN FLRT3 ZBTB20 TRNS1 BRCA2 TWNK AHI1 ANKH FLNA NDUFS3 AGBL5 EDN1 AKT1 MAP3K20 DHX38 CCND1 PBX1 KIF5A TWIST1 DNAAF3 ERCC5 EDNRA TXNRD2 PRRT2 TINF2 CEP250 DNAJC19 MTHFD1 MITF PEX16 ND1 NEDD4L IFT27 SUCLA2 CABP2 TP63 COL9A2 PEX14 BBS1 PEX2 MYH9 PEX1 NKX2-1 GNAS ARID2 RNASET2 ZBTB20 PIK3CA COL1A1 FRAS1 GCH1 KIZ FGFR1 SF3B4 FLII REV3L NFIX SPATA7 SOX2 USP9X TWIST2 FANCC COLEC11 CNTNAP2 TRAPPC11 SOST PROKR2 VPS11 CASK NTNG1 PAX1 PRKAR1A VCL MRPS2 SQSTM1 TRNT1 PLN PMPCB EYA1 MYO6 GJB2 UBE2T GJB6 MCIDAS DNAH9 PEX1 MRAS GTF2H5 ND5 PEX1 BCOR COX15 ND1 GAS2L2 KIF7 ERCC4 WHRN RAI1 NLRP3 FHL2 ANOS1 SGCD IQSEC2 PEX12 DLX6 IDUA ERCC4 COX2 CHSY1 LRP5 MBTPS2 COL2A1 NUBPL KCNN3 PROKR2 TCTN3 ADGRV1 MAP3K7 TRNQ TMEM216 STXBP1 RFC1 PRPF4 FOXE3 EFNB1 ADK USP9X ERCC4 ATP6V1B2 DNAI1 FLNA SHOC2 DNMT1 FDXR NR2E3 SOX4 CASK CREB3L1 KITLG COX3 PRCD ZMYND10 NDUFA11 SIX5 IQCB1 BMP4 PITX2 PORCN SDHB CTSA GJA1 CDKL5 DHDDS GP1BA BCS1L CYP7B1 IFT140 RP2 GDF6 CEP78 PPIP5K2 NDUFS2 PROK2 SERAC1 CNGA1 NDP IQSEC2 NPM1 MAP3K7 MIR96 MYO6 ND5 MPZL2 AMMECR1 TBC1D24 COX20 RUNX2 PRPH2 DCAF17 COG7 FANCI GALC SEC24C DNAAF6 HACE1 ALX1 FUCA1 TWIST1 KIAA1549 SLC9A7 TTC19 GJB3 WFS1 SPEF2 ZNF81 FGFR3 PEX2 NAA10 ASPA NF2 SOX11 TNFRSF11B SLC52A2 PEX14 XPA FGFR3 NLRP3 GNS SNAI2 NEU1 FANCA PEX6 ITGB6 PRDM16 ABCA12 USP45 BBS10 NDUFAF3 NUP107 ERCC2 DMXL2 FANCB GIPC3 TCOF1 GLYCTK RFT1 BCOR BCOR PHEX TACO1 EDNRB MSX1 NOTCH2 NLRP3 GATA2 SEMA3E SLC39A8 NOG AMMECR1 OSTM1 FASTKD2 SIX1 NDUFA6 CARS2 TP63 PEX1 PHOX2B KCNE5 RSPH3 ATP1A3 EBP MASP1 SNAI2 DRC1 CHSY1 PSAP TULP1 WAC TRNL1 PTPN22 USH1C HSD17B4 COX1 LRP5 PEX26 TK2 CNTNAP1 PDE4D FOXC1 SP7 FGFR2 SLC25A1 TRNC STAC3 PRKAR1A GJB2 PCGF2 ACO2 COQ7 NDUFA13 FANCC COL11A1 CLDN14 RFT1 NDUFB9 SLC26A5 TCAP POU4F3 MEGF8 RREB1 SLC26A4 PEPD SOST GFER MITF LONP1 MYO7A HESX1 SIN3A PLAGL1 TIMM8A GJA1 MYT1 SDHA BTK NECTIN1 ALX3 SCO1 GDF3 LRP4 SYT2 RET SUFU LCA5 TSPEAR FRMPD4 FGF3 RRM2B ERCC1 PHYH ATP6AP1 PNPT1 COX10 FGFR2 TMEM126B CDC6 GJB2 COX10 PTPN11 GZF1 KAT6B TSPAN7 RPE65 LMNB1 CPLANE1 SKI PRTN3 PLA2G6 TP63 FLNA MBTPS2 APC APC2 RIT1 ALOXE3 FOXI1 GAS8 BBS9 LDB3 NDUFA1 NSD1 GJB2 HACE1 LOXL3 SMARCA4 NDUFA4 PEX7 TRNW RPL11 FLNB ND6 ZNF41 MPDZ ABCC8 FGFR3 CFAP300 IFT88 TARS1 TRNV ND4 NEK2 TMEM132E NDUFAF3 EDNRB RHO PTPRQ TWIST1 TRNS2 BPTF ARHGDIA TACO1 DLG3 IRX5 SLC33A1 SIX6 SLC19A2 ASCL1 AGRN PEX6 RPGR TBX1 GTF2IRD1 FAS RAI1 SALL4 PEX16 ND6 ARX NDUFS7 POLD1 GATA3 C1QBP NOG MANBA TNNI3 ACTG1 LARS1 TRIOBP EFTUD2 HDAC8 SPIDR BRAF PITX2 MGP TRNV USB1 NAGA BMP4 SOX10 SETD5 GJB2 SLC26A2 FSHR FGF3 PIK3R1 AMER1 RECQL4 MAP3K7 NDUFAF4 FGFR3 HS6ST1 CFAP298 CDHR1 COG5 KDM6A CEACAM16 ROR2 MAP3K7 RPS6KA3 GLIS3 KCNJ13 ABCC9 ROBO3 SIX1 GJB2 ZFP57 ADPRS IDUA FANCE AIFM1 EXOSC2 FANCM MAX PDE1C MYO15A CLIC5 RAF1 SNAP29 KDM6A HNF1B PMP22 PGM3 PDHA1 TRNQ AP1S2 PEX26 ARID1B PSEN2 DNAH5 PRPS1 ARNT2 ARHGEF6 RAC1 NDUFA13 TRNF SMAD4 NDUFB11 RPS6KA3 PEX3 DGUOK DNAAF5 USH1C BRAF FAT4 IFT172 LRP2 TFAP2A CASK SALL4 TRNS1 TNFSF11 STAT3 PTPN22 PRKDC SGPL1 DHDDS GBA2 SDHC RNF13 NSD2 PCDH15 TRNL1 TP63 PDX1 TERC SMCHD1 EFTUD2 VCP TSR2 MARVELD2 ENPP1 CYP7B1 FANCE IDH3B COL4A3 KCNJ10 RTTN CRKL TNFRSF11B GPC4 CPLX1 PAX2 SOX10 ABCA4 NDE1 FBN1 TPM1 COCH STUB1 COL4A5 FOXJ1 NDUFA10 NDUFV1 SLC26A2 KRAS NSD1 BEAN1 SLC35A2 GDNF FRG1 TRNL1 NAGA SMC1A CCDC103 LIPT1 NOG NDUFS8 CRYAB FBN1 CACNA1D DNAJC3 TRNI AHSG LRP4 MYH9 PEX7 KCNJ10 ZNF469 RAD21 COL9A2 GTF2E2 KLHL7 GMPPB CDC42 UBR1 IMPG2 SCO2 MAPK1 CPLANE1 IGBP1 NDUFA9 HOXA1 ANKRD11 TBC1D24 P2RX2 GLI3 DVL1 OFD1 PEX16 KISS1 PEX7 BCAP31 MYH14 POR PCDH15 WHRN ELMOD3 SPTLC1 NOP56 ND3 ST3GAL5 DDB2 GRIP1 HOMER2 BCR NRAS OSBPL2 SLC7A14 KCNAB2 MAN2B1 ARHGEF18 VPS11 DNMT1 COL11A1 FAT4 RNR1 DDX11 ATRX NDUFS4 TERT RBM8A CNGB1 NUS1 IDH3A ARID1B POLR3H PLAA GMPPA ROR1 PTPRQ HNF1B PCARE TP63 OPA1 MBTPS2 BTK PORCN MYH3 MET MITF FRAS1 TTC8 ABCB6 NMNAT1 ATP8B1 GPC4 C8ORF37 ANKH MPZ LRAT SALL1 OPA1 USH1G BEAN1 DOLK SLC25A11 SUCLA2 PAX3 FOXC1 TIMMDC1 NOG COQ2 PDK3 S1PR2 IGF1 GCK AP1S1 KCNE1 COL2A1 HTRA2 OTUD6B MSRB3 NDUFAF5 RSPH1 GJA1 ERCC4 GAB1 SUMF1 AMER1 SALL4 NDUFV2 DNAL1 IRF6 FTO WFS1 BPNT2 RRM2B TRNL1 COX8A EYA1 ERCC6 STAC3 DIAPH1 RBM20 KAT6B GDF5 MANBA TRNF ARSG CEP290 NDUFA9 PEX5 MSTO1 EP300 COL1A2 COX14 RPGRIP1 TECTA PTPN22 PNPLA2 COL2A1 KISS1R CYTB EDN3 CTSA COL11A2 PEX5 AP1B1 PTEN LZTR1 IMPDH1 LEMD3 TMPRSS3 SNRPB ST3GAL5 KCNC3 RPS28 ARVCF CLCN7 ATP6V1B2 POMGNT1 PIGV TMEM127 TTR NDRG1 PEX13 MGP RAF1 SDHA CHST14 PEX12 KCNJ10 JMJD1C ACTB ARHGAP29 ND5 FGF17 SLC5A7 POLG MPZ GFER SLITRK6 SOX2 NARS2 SLC25A4 NRTN SMARCA4 FLNB PEX2 GJB2 BCS1L STRC ACTN2 MPLKIP PROM1 GNAS MAF PRPH2 DUSP6 BCS1L ACTG1 POLG XPNPEP3 ERCC4 RMND1 VHL EXOSC8 FGF9 FANCD2 DES PEX10 XRCC4 ND1 FGFR3 SNX10 LRP5 CHD4 PCYT1A ATP2B2 MAP2K1 PEX10 ILDR1 NDUFAF5 ITGA2B WHCR GJB3 PEX11B SDHD RAI1 MYH3 SLX4 CCDC141 ESPN CDK5RAP2 POLG OTOG TRAF7 SGSH LRRC6 THRB NRL CCDC40 EPS15L1 ABCC8 BMP4 RERE CSRP3 BTK CCBE1 ALDH18A1 CTNNB1 PGM3 MKKS BBS5 FANCL CLCNKA PEX10 ADCY1 COX3 EYA1 RBM10 COL11A2 MASP1 PLCB4 SDHD PCDH15 WRAP53 NOP56 COL2A1 MAFB COX2 SOX9 DIAPH3 NR5A1 CRB1 POLR1D FREM2 RRM2B FMR1 HARS2 ERCC2 GSDME CDH23 ND5 PEX11B POLG TNFRSF11A FOXRED1 FGFR2 MARS2 ERCC3 SLC52A2 CATSPER2 KITLG TWIST1 ERCC6 IFT172 BCOR NLRP3 BMP2 TRNF COQ6 RPGR G6PC3 COL7A1 ACY1 PHYH OTX2 EPG5 SETD2 SOST AK2 RASA2 DNAAF3 MYH3 CCDC151 EDNRB PEX6 PSMD12 POU3F4 PDE6B ASPA NRAS RFWD3 SYNE4 CA4 HYMAI RAF1 NOP10 CDT1 TYMP PMP22 SUMF1 SLC52A3 RAP1A NHP2 GSN PCNT HOXA11 FZD2 ATN1 CRB1 NDUFS4 FGFR3 TWNK CCDC65 NDP PIGL FGFR3 COL11A2 MECP2 SLC39A8 ORC1 GNRH1 PRPS1 PSAP ZIC1 GJB4 DVL3 PRDM5 RPL10 KIF7 CCBE1 COLEC10 EPG5 PEX6 SOX10 MYO7A SLC29A3 ARSA CCDC39 PEX3 GBA NAXD GATAD1 AIFM1 ACTB TMC1 HOXA11 LZTFL1 MYCN ZIC1 FGFRL1 KISS1R POLR1D TRIP13 MYD88 B3GLCT BSND ACVR1 RAP1B CTNNB1 PTEN ELN TSHZ1 FLCN OPA3 PALB2 GMNN SBF2 MKS1 NAGLU PRPF3 HCCS SDHD PUS7 MOGS MITF PNPLA2 HDAC8 SPRY4 POLG GRHL3 HCCS TAF1 NOTCH2 ND6 CLRN1 COG1 KYNU PROKR2 NOTCH3 TOPORS USH2A TRNF TTC25 DLST TRNL1 DDX3X BDP1 ATP8 EPRS1 TYR UFD1 ALG11 TAZ ATP1A3 ECE1 MITF PDK3 TCIRG1 WDPCP ARMC4 SOST CLRN1 KCNJ10 SDHAF2 CHST3 COLEC10 GRXCR1 COL2A1 SOX9 LRP12 OFD1 LRP2 LMNA SMCHD1 PEX13 EYA1 CFAP221 EHMT1 TAF1 CTC1 DMP1 TRRAP EYA1 DGUOK KCNH1 CDH11 SOX2 CIB2 TP63 PPP1CB AAAS CDCA7 SDHC DSPP DCC ASPM CHAT CISD2 PAX3 TTC8 CCNO DCHS1 GJB1 CARS2 TPM2 RAC1 PEX11B RPE65 POU3F4 BMP15 LOXHD1 RSPH9 TFAP2A PRRX1 SLC17A8 FGFR2 COX7B TBK1 ARL6 DIABLO PLOD3 PAX1 DLX5 PEX11B POLG SMARCB1 IRF6 VAC14 ARSG AARS1 TNFRSF11A TANGO2 UBE2A HOXA2 ADGRV1 PAX3 NLRP3 COL4A3 PNPT1 PIGS TRNK ACOX1 GRHL2 ADAMTSL1 XPA TINF2 CEACAM16 IL17RD WFS1 FGF17 HBB MERTK PET100 COL1A1 PDZD7 CXORF56 FKBP14 STAMBP CACNA1A PDE6G RECQL4 ERCC8 SAG RAB39B NOG GUSB HARS1 XPC EBP GSC MYO3A PHF6 RRM2B GATA1 HCFC1 TIMM8A PDE6A MECOM SPAG1 TCF12 TMEM67 NIPBL STRC PGAP2 NFIX TYMP DSG2 RIPOR2 WBP2 FUS FLRT3 DNAH1 NSDHL SNRNP200 SURF1 DHCR7 MECOM PTRH2 MYO9A EYS SLC19A3 CLCNKB PEX19 SURF1 FOXI1 CFAP300 DNMT1 L2HGDH KDSR TRNP RUNX2 FKBP14 SOX10 SMC3 CDC14A RRAS2 BCS1L ITM2B FGFR3 COX6B1 SPRY4 TPRKB LRP5 SNAI2 SARDH SLC25A24 FANCF CERS3 ND2 TRPV3 DKK1 RLBP1 SDHA GJB2 C9ORF72 FGFR1 SURF1 MLXIPL BRAF REST TOP3A CLIP2 RD3 CTBP1 LRTOMT REEP6 LORICRIN UBB GPRASP2 MYH7 PRDM5 COL11A2 SHANK3 PAK3 SCN5A ELAC2 GNRHR NDUFS2 SDCCAG8 HS6ST1 SLC4A11 GMPPA TBL2 ALMS1 PTCHD1 CSPP1 DNAI1 IARS2 GUCA1B PJVK FH FANCG IDUA HSD17B10 SURF1 DNAJC21 MEOX1 ARID2 PEX26 GALNS FXN TBL1Y TRNK TRPS1 PNPLA1 MITF COX1 BCS1L SLC29A3 DLX4 MYBPC3 MED12 OAT GJB2 SEMA3D LMX1A COMT GJC2 CD151 COL1A2 SKI SERPINB6 POLG GPC3 ERCC2 GJB6 SRCAP TRAPPC12 TBX22 TACR3 MGAT2 TWNK SPECC1L DVL3 TRNH PEX10 ARID1A CRX FGFR1 GP1BB COL9A1 CHN1 FGFR3 DMD SIX1 RDX TRNK TRNL1 BBS1 SIX1 HUWE1 WNT5A TUB PEX13 USH2A FLNA KMT2A RAD51 GJB6 NDUFS1 GABRD SMCHD1 GP1BB EYA4 WDR11 CD164 RP9 PDGFRB ARSA KIAA0753 COL10A1 TRNS1 NDUFS4 COCH TRNS1 DCAF17 EDNRB SC5D SDCCAG8 RBP3 MYO7A COL2A1 SLC26A4 RTEL1 VHL NSMF NLRP12 TRNS1 TK2 NPHP1 STK36 BRAF OFD1 CTNND1 XRCC2 FIG4 TP63 INTU IMPDH1 NIPBL VAMP1 PIEZO2 PTPN11 ARSB HAAO VHL DVL1 NDUFS6 PEX19 SOS2 GJA1 ATP6V0A4 SPATA7 LMX1B PLP1 PEX12 RRAS ACVR1 TRNW CHCHD10 CDH23 KYNU GDF6 TIMMDC1 KIF1B TRNP FOXRED1 OTOF ADAMTS3 USP9X PCDH15 DKC1 TUBB3 TNC PRPS1 POGZ ATP6V1B2 NLRC4 NDUFB11 SLC10A7 SMARCE1 PAX2 XYLT2 RPGR CREBBP NDUFAF2 RPS6KA3 AP1S2 PPCS OFD1 TBX22 GPSM2 GUCY2D ERCC6 HOXB1 FGFR1 ANTXR1 DPF2 BAZ1B EHMT1 KRAS COA8 ECHS1 KIF7 PROK2 WFS1 MEOX1 MED12 RGR NXN ERCC3 ERCC2 SYT2 NEU1 SGMS2 RERE DACT1 CHRNG ATRX FGF8 BAG3 SCAPER SPNS2 FGFR2 NME8 CHRNG ATP6V1B1 SMC3 DNAJC3 TCF12 SUCLG1 SALL4 PTPN11 PARN ITGA2 RNF113A ALG11 ARSA PEX7 SQSTM1 MECP2 BTRC FOXG1 CRYM TWNK OTOGL TECTA CEP78 MDH2 TRNK NLRC4 PEX3 TRNH PYCR2 GRXCR2 LHX3 RPL10 GMNN TMEM38B DEAF1 DUX4 BRAF TRMU FUCA1 LRP5 NDUFS2 UPF3B OFD1 VPS37A ABHD5 KARS1 LMX1B TGFB1 TRIM32 ELMO2 ABHD12 ORC6 PEX26 ROM1 BUB3 RRM2B COL11A1 TWIST1 COL25A1 AMMECR1 UGT1A1 NAA10 DNM1L YME1L1 PEX6 LRAT TCTN3 MSX1 WFS1 COLEC11 LIG4 DHODH SRY FEZF1 COL2A1 DNASE1L3 TP63 CAP2 FAM149B1 DUSP6 WDR11 FLNA MARS2 DARS2 HGSNAT PRPS1 SETBP1 COL2A1 TTN SOST TUBB4A USP27X DMXL2 HNF4A TBX4 EDN1 BBS12 CHD7 FIG4 NIPAL4 USH2A KCNJ11 MYO7A GUCY2D SLC4A11 DHODH PEX13 TK2 C8ORF37 NDUFA2 GAA TWIST2 FGFR2 OTUD6B IFRD1 SLC39A14 ACTB TRNS2 ERF TNNT2 LMNB2 SMPX MYH9 GDI1 PEX1 FKTN FGFR2 PRDM16 SEMA4A PIEZO1 PDZD7 DDX3X PPP1R15B RET ABCD1 HDAC4 A2ML1 CHD7 MYO7A NDUFAF6 PEX2 NAGA NSUN2 ZNF513 SMARCB1 TRNS2 MFN2 NELFA COL27A1 RNF135 NDUFV2 COL2A1 RDH5 COL9A1 CHCHD10 SIN3A LIMK1 GALE PEX1 FGFR2 CCDC28B OTOA DNAH1 SC5D DHCR7 TULP1 WHRN CHD7 ND1 ACOX1 KCNQ1 PROKR2 FLNB PEX16 ZIC1 OPA1 CD109 TBX1 ZNF711 COL1A1 CNOT1 COQ8A FGF8 SNRPB NEK1 LAMA4 SLC26A4 ATP1A2 ALOX12B PIK3R1 TRNL1 NOTCH3 SPRY4 KLLN COL13A1 PEX6 ZMPSTE24 SEC23B POMK CIB2 SQSTM1 COL11A2 BCAP31 COX7B SEMA3E PRPS1 GDF5 PEX19 SALL1 CHD7 BRIP1 TCIRG1 NDUFB11 BBS4 MCM2 SOX3 TBC1D24 TWIST2 SDHB MSTO1 CEP57 LHFPL5 DNAJB13 PNPT1 PRPS1 ACSL4 TBX1 GJB1 FSCN2 KCNE1 NDUFS8 IARS1 DCDC2
Neoplasm
Genes 1473
GPC3 LETM1 LZTS1 REST MPL ARID1B RPL18 MGMT GLI3 BIRC3 ZSWIM6 TRNS2 ETV6 HNF1B KIT BRCA1 SUFU PLAG1 SOX9 TP63 CTSC RASA1 ATRX TRIM37 SUFU BTK CYP11B1 NOTCH3 EPCAM PORCN PIGL AR TET2 FH TGIF1 HMBS ATRX TREX1 SMAD4 KRT17 FGFR1 WDPCP SF3B1 GPR101 KIT GLI1 SLC25A11 XRCC4 SDHD PRKCD RNF43 SDHB BAP1 EGFR PIGA NF1 ASCL1 MPL RET C2CD3 GDNF NR5A1 DICER1 TNFRSF4 CASP10 TERC FGF8 PSAP CIB1 SLC22A18 PTCH2 ENPP1 CDKN2C SLC25A11 GPR101 KIT AXIN2 TREX1 DYNC2LI1 ERCC4 RPS14 COMP TINF2 FOXE1 DHCR24 RPS7 TYROBP HOXD13 ERBB2 BLK EYA1 ZFPM2 ERCC6 NLRP1 STAC3 ERCC5 NUTM1 MEN1 WT1 BCL10 GNPTAB KRAS TP53 KDR PUF60 TRNF FCN3 SDHC KCNH1 MSTO1 EP300 BUB1B GNA11 KCNE3 DOCK8 SEMA3C ACD GLI2 SMPD1 SUFU NF1 PTCH2 ACAN DCC WT1 CTSA KIF11 BCR SRGAP1 KIT PTEN LEMD3 MLLT10 SCN4A BRCA2 BMPR1A NOTCH3 SEC23A CDKN1C BARD1 SPIB RSPO1 MC2R CALR ATP6V1B2 NBN RAD54L MST1 SUFU MYCN TMEM127 SRD5A3 IGF2 CD28 RUNX1 OGG1 HAX1 SDHC CTNNB1 MST1R SDHA IGF2 KCNJ10 IL12RB1 MEN1 RAD51 TFE3 ND5 MMEL1 MVK APC FLI1 RNF6 NF1 BRCA2 SUFU GPC6 NR4A3 TTC37 KIT NRTN BLNK IGH SPRED1 TXNRD2 IGF2R FOXP1 BUB1B SOS1 LRP5 GJB2 DNMT3A PMS2 PRKN RET MSH6 ACVRL1 MPLKIP ERCC2 AIP GNAS TAL1 NNT RECQL4 PMS1 DLL1 EIF2AK4 STAT6 MNX1 SDHB KRAS MEN1 MN1 SH2B3 EFL1 VHL KLLN RMRP RUNX1 SIX3 GDNF FANCD2 EXT1 CDH23 BRD4 DLEC1 NODAL CARMIL2 SDHB MSH2 HMBS SMAD4 SRP72 NRAS DOCK8 SPRTN BRCA1 MAP2K1 KRT14 LETM1 TERT MAP2K2 HRAS WHCR WT1 IDH1 TMEM107 SCN10A GJB3 SDHD KRAS GATA1 RPS20 GJB2 SLX4 USP8 PRKAR1A CR2 JAK2 HFE MPL POT1 BRCA2 GNAI3 SDHB ALK OCA2 TP53 GPC4 ACTG2 CTNNB1 HSPG2 AR FGFR1 STK4 MET TMC8 MRAP MSH6 CCBE1 EWSR1 LMO1 EDN3 LEMD3 PGM3 FGFR3 CASP8 RB1CC1 SCN9A FANCL TG SDHD COX3 IGF2 COL11A2 AGGF1 GPR101 PRKN PLCB4 SDHD NF1 GTF2E2 MAP2K1 ESCO2 CDC73 WRAP53 TET2 PDGFRB RNASEH2A RAD21 HNF1A TGFBR2 POLD1 COX2 TNFRSF10B MINPP1 DNAJC21 FAS EXT1 SLC26A2 APC SDHAF2 TINF2 LIG4 POLR1D WWOX TMC6 RPS19 ERCC2 SASH1 MC1R MVD SEC23B CYP2A6 GPC3 KIT HRAS RAD54L SDHA GDNF NKX2-1 GFI1 ALX3 STAT3 MYH11 DYNC2LI1 FGFR2 TCOF1 PTEN MAFA PIK3R1 SLC25A13 HRAS VHL COL7A1 GNAS FGFR2 PIK3CA GPC4 DICER1 ERCC3 PIK3CA RAD51C RB1 RMRP MLH3 ATM COL7A1 LIG4 NF1 VAMP7 RPL35A RB1 SETD2 BCL10 LPP NRAS KRAS ABCA5 ERCC2 PDE6D KCNQ1OT1 MS4A1 SLC22A18 APC LIG4 JAK2 FANCD2 GAS1 STAG3 NRAS PALLD SLC22A18 RFWD3 PPP2R1B APC PTPN11 PTEN WIPF1 PIK3CA NOP10 IL7 UROD TNFRSF1B TP53 REST SLC37A4 NHP2 CXCR4 KIT CYSLTR2 FZD2 ALX4 BMPR1A SRY TRNQ SDHD PIGL CCM2 FIBP FANCI GJB4 SPINK1 RPL10 NSD2 MAP3K1 RET CDK4 HSPA9 TET2 GFI1B MAD2L2 DCC AP2S1 SMAD7 BRCA2 TRNK ERCC3 BRCA1 ELANE SFTPC PTH1R COL1A1 FUZ OFD1 RET FLT4 PRKAR1A SBDS RPL26 SMARCE1 SMARCAD1 MSH2 BCR GPR35 INTU FANCA STAT1 ANTXR2 FGFRL1 TUBB BRAF SLX4 CASP10 TERT RAD21 MTOR TRIP13 MYD88 DPM1 RSPO1 PTPN11 CTNNB1 AIP PTEN VANGL1 CYP2D6 RPS10 GCK KRT16 DNAJC21 BCL2 AKT1 KRAS KLF6 NOTCH1 FLNA MAX NF2 PALB2 TP53 PSENEN RNF6 TSC1 HNF1B TP53 RFWD3 SDHD PERP TP53 DIS3L2 B3GALT6 STS PDGFB SMARCB1 BRAF BRIP1 CBFB BUB1 BLM INHBA CALR NBN MLH3 TAF1 MLF1 PIK3CA MSH2 CTLA4 ND6 PALB2 WT1 PTCH1 POLE ADA MC1R FLT4 ATP7A MLH3 SMO TRNF NRAS LMNA DLST TRNL1 MTAP TP53 ZAP70 SDHB CHEK2 PALB2 FLT4 CDK4 NBN MSR1 CC2D2A TNPO3 ECE1 RPS15A NAGS TMEM67 HNF1A PIK3CA ATP7A AKT1 NRAS SDHAF2 CXCR4 TSC2 NF2 EPHB2 WDPCP OFD1 BUB1 FLT3 APC SMARCA4 CDKN2A RPS29 MCM4 PDGFRA ESCO2 CTC1 ESR1 SDHB MSH6 APC HABP2 GNAQ KIF1B SH3GL1 CD70 MPL IGH ZIC2 GCM2 VEGFC HRAS CTNNB1 KCNH1 LRRC8A BRAF FAS ICOS NSD1 RNF43 AKT1 BIN1 DLC1 SH2B3 RARA WNT10A CARD14 SDHC EXOC6B ESCO2 POLR1C G6PC MSH6 KRT1 PDX1 TNFRSF13C ERCC3 EVC SNAI2 CD79A BRCA1 RNASEH2B CCND1 TP53 RPS19 H19 H19 BRCA2 TFAP2A ARMC5 FASLG FGFR3 APC F5 EDN1 MAP3K8 AIP APC AKT1 TERC CCND1 CEL MYC TP53 GPC4 ERCC5 HNF1A POLE DAXX NUP214 TRIP13 AKT1 TET2 CDC73 ND1 MUTYH PIK3R1 TERT CEBPA EXT2 OCRL DIS3L2 ADAR TGFBR2 BRCA2 MRE11 SOS1 HNF4A FAH TMEM127 WT1 AXIN2 TCF4 EDN3 PTPN3 KRAS SEMA4A PIK3CA XPA MFN2 TINF2 PIK3CA APPL1 RUNX1 GNPTAB FGFR3 NRAS PDCD10 RAG2 PTEN CTNNB1 SOX2 BMPR1A HBB TERT USP9X NFKB1 FANCC PRF1 WRN SRY SRSF2 PMS2 RHBDF2 PHOX2B RPS17 PAX3 RECQL4 KIF1B SQSTM1 RB1 EXT1 XPC CYLD TOP2A MYD88 CDKN1B TET2 GJB2 PTEN UBE2T RTEL1 PTCH1 KLHDC8B GATA1 POLH JAK2 RHOH FLCN DCLRE1C MTMR14 GTF2H5 PTEN SBDS TBC1D24 PAX7 AR TP53 ASPSCR1 MTM1 RECQL4 ERCC2 TGFBR2 ERCC4 JAK2 SF3B1 CDKN2B XPC GATA4 KIT POU2AF1 BRCA2 GREM1 CDON NTHL1 DICER1 GINS1 ATM RAD51D SHOX EXT1 RASGRP1 WT1 GATA2 NF2 ERCC4 TUBB MBTPS2 DHCR7 MYLK KCNN3 TCTN3 TMEM216 TMEM231 KRT1 CTNNB1 MPL PDGFRB FANCG RPGRIP1L KEAP1 DICER1 WT1 BAP1 FOXI1 ERCC4 CDKN2A FGFR3 KDSR CBL HRAS BMPR1A DISP1 RELA MAP3K1 PARN BCR ENG COL7A1 LMOD1 KRAS PAX6 SNAI2 GLI3 FANCF FOXO1 RPL15 TBX18 TRPV3 PIK3CA NRAS CDH1 GNAS SMARCB1 KLF11 ADA2 EDN3 POU6F2 CDH1 GNAS IL1B SMAD4 H19-ICR SDHB STK11 NF2 TRIM28 SEC23A SLCO2A1 BRCA2 BRAF DNMT3A MDM2 BMP2 BRCA2 DHH NRAS POU6F2 CTBP1 PTCH2 FLCN CALR BAP1 LIG4 HRAS REST BRAF SAMD9 NDP TYR KRT17 MUC5B PRSS1 MEN1 NPM1 ITK MSH2 CYLD TAL2 SRP54 IFIH1 HMMR TCTN3 ND5 JAK2 FAM20C RET NEK9 DMRT3 KRAS MINPP1 SH3KBP1 THPO FAH KRT5 JAK2 PHKG2 TSC1 TNFRSF13C MEN1 FH RPL31 FANCG PIK3CA IL2RG DNAJC21 VANGL2 MYO1H ALX1 CDKN2A AIP H19 NRAS TWIST1 PTEN TRNK TRPS1 RPS26 MAPRE2 RPS27 TCF3 KRT17 ERCC6 DHH MMP1 FGFR1 SEMA3D PTCH1 ABL1 CDKN2A SKI APC WWOX ZSWIM6 NF2 WNT10A KRAS GPC3 REST GJB6 HRAS VHL CTNNB1 TGFBR1 IL6 TDGF1 RPL11 IL1RN BRCA1 MGAT2 POT1 ASCC1 XPA TBX2 FLCN HFE NTHL1 SMARCB1 DVL3 TRNH IDH1 FANCA LAMB3 CD79B RAD51C PRDM16 PHOX2B GNAQ CCL2 PDGFRA CREB1 SRP54 PIEZO2 TRNL1 GBA GNAS WNT5A PIK3CA STS FANCB KRAS MAGT1 RAD51 IDH1 TNFRSF13B TREM2 GABRD BCL10 SKIV2L POLD1 KRIT1 KRAS ARSA SMAD4 RAD51 TP53 DIS3L2 KIAA0753 PRLR CD96 LZTR1 WRN GATA2 EDNRB MUTYH ATM CHIC2 TP53 CYLD PAX4 SLC26A4 RTEL1 VHL NEK1 TRNS1 GCM2 TYR ATP7B CTHRC1 BRAF ASXL1 OFD1 MLH1 CDKN1A PHOX2B XRCC2 CD19 RB1 FOXC2 TRIM28 EWSR1 TERT GNA11 F13B CDKN2A KARS1 BCL10 TP53 WT1 CDKN2A FDPS KIT COX1 COL14A1 VHL WT1 TERT SMAD4 STAR NUMA1 RPL5 PDGFB PCGF2 CFTR KCNQ1OT1 KIT GJA1 GNAQ CD27 FANCC IDH2 EVC2 BRCA2 TCF4 KRAS PIK3CA CDC73 ACVR1 BRIP1 TRNW PRCC GCGR CDKN1B STK11 SCN11A TGFBR2 AXIN2 ERBB2 RPL35 APC TSC2 IL12A SSX2 TET2 KIF1B DICER1 TRNP BTK CCDC22 PDGFRA ALX3 ADAMTS3 CD81 RET DKC1 GLI3 FGF3 SMAD4 STK11 ERCC6 WT1 ELANE C11ORF95 SAMD9L SLC45A2 NQO2 PTPN11 ATR PDGFRL TNFSF12 BRCA2 ADA BUB1B FASLG GDF5 KRAS CPLANE1 CREBBP CDC73 CLCNKB GATA2 CTRC SDHA ACTB APC BMPER SPINK1 APC2 MC1R FOXI1 DYNC2H1 KIT PPM1D SDHC NSD1 SDHC DDX41 ANTXR1 CASP8 F13A1 SUFU INS NUP214 ANTXR2 KIF7 NFKB2 ABCC8 TARS1 ERCC3 TCIRG1 ND4 ERCC2 GNAS TERT WASHC5 SLC49A4 RERE CALR MSH3 PHOX2B SLC25A13 BMPR1B CYLD SIX6 ASCL1 IDH2 FAN1 CHRNG CBL NEUROD1 MSH3 THPO VANGL1 CDKN2B TAF15 PTCH2 HMGA2 MSH6 CHEK2 FN1 GATA2 IRF1 KRAS BMPR1A NPM1 ERCC3 CDH1 ALK DNM2 ERBB3 PTPN11 DLST MUTYH PARN GFI1 NBN FGFR3 CHEK2 EP300 RNF113A TNFSF15 TEK TERF2IP ICOS COL18A1 TNFSF12 BRAF CHEK2 IFNG TMC6 USB1 KDM6B GJC2 SLC26A2 MDH2 TP53 ENG MLH1 KRT6B MNX1 PDGFB TRNH POLE CASP10 HPGD TET2 RB1 PHOX2B JAG1 GNB1 ACD TNFRSF13B MYC BRAF TSC1 SAMD9L BCL10 H19 POT1 USP8 IGF2 OFD1 CYP11B2 KCNQ1 CDH1 LMX1B TET2 ANTXR1 JAK2 SMARCB1 ELMO2 PTCH1 SIX1 L2HGDH WRAP53 BUB3 AXIN1 RET KCNJ11 ABL1 FANCE RAD54B FANCM TSC2 MAX IGHM TSC1 HACE1 CASR RNF139 MITF RAF1 WT1 TCTN3 POLH LIG4 TP53 KRT10 AAGAB SRY RAD50 TNFRSF1B TRNQ DNASE1L3 FAM149B1 KRT9 VHL FLCN TBXT SLC37A4 DKC1 PNP DDB2 SETBP1 ECM1 MSH2 CR2 COL2A1 COL7A1 MLH1 FH SFTPA2 PIK3CA FOXH1 MET HNF4A H19 KAT6B GPR143 PHB PMS1 ATP7A FAT4 TJP2 TFAP2A GDF2 AHCY TSC2 CD19 TRNS1 BDNF TRIP13 AKT1 FGFR2 RAG1 BRCA1 SDHC MLH1 XRCC3 NSD2 LMNA SDHC TERC EXT2 PIK3CA MSH3 SDHD SRC CHEK2 C1S ABCA5 HBB RYR1 FGFR2 CDC73 KIT FANCE RET LYST KCNJ10 BCHE HDAC4 INPP5E CRKL PHOX2B BAP1 CPLX1 PDGFRB ARL6IP6 RNASEL SETBP1 CTLA4 PALB2 DCLRE1C NSUN2 XIAP TRNS2 BMPR1A IL7R BCL6 COL4A5 PIK3CA NOD2 PRKAR1A NELFA IL2RG MYH8 RHBDF2 IGLL1 PIK3CA SERPINA1 FOXE1 ARHGAP26 TCF4 MITF ABCB11 ERBB2 GNA14 SLC26A2 NSD1 SH2B3 STK11 PTCH1 GDNF RPL27 DHCR7 WAS CIB1 SHH CACNA1S LIN28B SF3B1 ATM PRKCD RPS24 LAMA3 ATRX CASP8 AKT1 OPCML HFE SH2D1A ING1 CCND1 SLC12A3 HABP2 H19 LAMC2 RAD51C NAB2 NRAS MAPK1 CPLANE1 CYP26C1 CDKN1B CHD7 IGH MYF6 BLM ASXL1 FH NEK1 HLA-DRB1 SLC26A4 RPS14 SHOX RNASEH2C SMARCD2 GATA2 CDH23 WT1 EPCAM NR0B1 KLLN DVL1 SEC23B GPC3 SLC17A9 BRCA1 SRP54 DKC1 RECQL4 CD28 PTPN11 HRAS NBEAL2 BARD1 MLH1 DDB2 PMS2 IRF1 ABCC6 EXT2 ASXL1 TSR2 PTEN MALT1 PTEN BCR PALB2 BRIP1 SSX1 PHKA2 FGFR2 SDHB FERMT1 KCNAB2 FLT3 PMVK MSTO1 CEP57 MMP1 PICALM IRF5 TP53 PTPRJ RNR1 WWOX PLCD1 RPS28 FGFR3 COL2A1 IKBKG TERT RASA1 SAMHD1 PHF21A