SNPMiner Trials by Shray Alag


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Report for Mutation C677T

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 33 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

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

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

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

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

Primary Outcomes

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

Time: 1 year

Secondary Outcomes

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

Time: 1 Year

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

Time: 6 months

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

Time: 1 year

Description: MELD score ranges from 6 to 40.

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

Time: 6 months

Description: MELD score ranges from 6 to 40.

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

Time: 1 Year

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

Time: 1 Year

Measure: Adverse Events in both groups

Time: 1 year

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

Time: 6 Months

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

Time: 12 Months

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

Time: 3 Months

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

Time: 6 Months

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

Time: 12 Months

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

Time: 12 months

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

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

NCT04469543 Pediatric Non-Hodgkin Lymphoma
MeSH:Lymphoma Lymphoma, Non-Hodgkin
HPO:Lymphoma Non-Hodgkin lymphoma

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

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

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

Primary Outcomes

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

Measure: Death

Time: About six years

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

Measure: Events including progression, relapse, and secondary cancer

Time: About six years


HPO Nodes


HP:0000822: Hypertension
Genes 411
PLIN1 SMARCAL1 LIMK1 SDCCAG8 ELP1 TSC2 FMR1 CPOX GNAS COX1 SH2B3 LYZ CLCN2 NF1 NOTCH3 ARL6 EDA2R ELN APOA1 CTLA4 CC2D2A MLX FGFR2 ADA2 TRNC MMP14 MTRR BANF1 GLA TRNK TRNL1 CCR6 GPC3 CYP11B2 ERCC8 TRIM32 CFH ACVRL1 COL3A1 LRP6 TRNK XYLT2 CFI CALR ITGA8 SLC37A4 SUGCT GBA NF1 CD46 WT1 WRN KLHL3 BBS4 THPO SDHA POU6F2 ABCG8 CORIN NFIX PDE8B NOD2 ARVCF INVS PRKAR1A RET GLA SLC25A11 SCNN1A TRIM28 TRNQ OFD1 B2M WT1 TNFRSF11B ARMC5 FGFR2 HLA-DPB1 PPARG EDA TP53 BNC2 ALX4 LMX1B NPHP1 ACAT1 ACTA2 GNAS GTF2IRD1 SDHC UFD1 ENPP1 GATA5 LEMD3 MYH11 HGD SDHD RET RFC2 IRF5 KCNJ5 LDLR ERCC6 DLST REST CAV1 GANAB BBS10 SMAD3 TET2 TRNW MUC1 POU3F4 OFD1 ADA2 SDHB ERCC4 BBS9 CD2AP LMNA CYP11B1 MEF2A MMP2 CLIP2 COL4A3 ELN COMT HPSE2 BBS2 XYLT1 PRKACA JMJD1C SMAD4 VANGL1 G6PC WNK4 DIS3L2 TMEM70 HBB ENPP1 MAFB LZTFL1 TRNS2 PKD2 USP8 HIRA TRIP13 DNAJB11 FBN1 TGFBR1 CFHR1 SH2B3 PKD1 LMNA PRKAR1A SDHB SCN2B PRTN3 NR3C2 WDR35 MDH2 DNMT3A ELP1 ALMS1 ELN TRNL1 IQCB1 RET MKKS YY1AP1 LARS2 AIP TBX1 TGFBR2 SPRY2 FBN1 NOTCH1 ABCB6 PRKACA MTTP MYLK ARL6 ABCC6 TRAF3IP1 COL5A2 RET STOX1 H19 LEMD3 FGA TMEM67 SEC24C MAX CYP11B1 SLC25A11 ND6 KIF1B ACTN4 ADA2 HSD11B2 DYRK1B NPHP1 BMPR2 PDE3A ND1 TTC8 JAK2 MGP NOTCH2 VHL SDHB SDHAF2 VHL MYMK NPHP3 ABCC6 TGFBR3 PPARG ALMS1 SMAD6 TRPC6 CCDC28B TMEM127 VHL TNFRSF11A SCNN1B BBS5 SCNN1B ARHGAP31 APOB SDHD SDHD PDE3A GDNF RREB1 CYP11B1 ECE1 TMEM237 TRNE SDHC FH YY1AP1 LMNA TGFB2 COX3 GPR101 CYP17A1 BRCA2 THBD LMX1B WNK1 LRIG2 FIG4 CEP290 HLA-DRB1 XPNPEP3 CCND1 MKS1 ACTA2 FUZ COL4A3 CYTB SMAD4 LMNA TRNV SLC2A10 FBN1 PRKG1 COQ7 MLXIPL KIF1B AIP FLT1 SERPINA6 CFB PLIN1 HLA-B NKX2-5 WT1 PKD1 EGFR MC4R EPAS1 SLC2A10 GCH1 BAZ1B NSMCE2 VHL PCSK9 KRT8 WT1 WDPCP TRNK PKD2 APRT HLA-DPA1 MPL COL4A5 KCTD1 SDHD TRIM28 GP1BB THSD1 BBS12 CEP290 FMO3 CYP21A2 CUL3 NPHP4 PKHD1 BICC1 COL4A4 BSCL2 NR3C1 WT1 GANAB C3 COX2 TRNF IFT27 GTF2I STAT1 SDCCAG8 PAM16 MFAP5 LOX IL12B SLC37A4 LDLRAP1 MYH7 BBS7 TGFB3 CBS ARMC5 CEP164 ADAMTSL4 INVS CDH23 COL5A1 CACNA1D LMNA PTPN22 SCNN1A SDHB ABCG5 TBX1 FN1 TMEM127 BBS1 CYP17A1 FN1 RPGRIP1L AIP PHF21A CACNA1H POR ND5 ENG BBS1 PDE11A EXT2 COL1A1 GUCY1A1 TSC1 FBN1 TBL2 HMBS HMBS C8ORF37 NR3C1 FOXF1 PRKAR1A NPHP1 CEP19 KRT18 MAX ABCC6 VAC14 KIF1B KCTD1 TRNS1 HSD11B2 GJA1 SCNN1G KCNJ5 BBIP1 PDE11A ANGPTL6 CDH23 KCNJ5 MAT2A SMAD4 IDUA IFT172 CACNA1D WDR19 ZMPSTE24 CYP11B1 FOXE3 CCN2 GNAS SCNN1G GUCY1A1 NFU1 VHL USP8 CFHR3 NOS3 COL3A1 JAK2 OSGEP
HP:0000077: Abnormality of the kidney
Genes 1719
WT1 SMARCAL1 SLC34A1 SDCCAG8 KCNJ1 MICOS13 INSR ELP1 IL17F AMMECR1 KCNAB2 NF1 STIL CASP10 KCNJ11 CC2D2A GPR35 MYLK TMEM138 DYNC2LI1 RAG2 SLC9A3R1 NSD1 CYP11B2 GNA11 KRT17 SF3B4 GLA WDR35 CC2D2A CCR1 CEP41 CCR6 NDUFS3 NUP133 ANOS1 PIK3CA MOCOS INS GBA CDK6 CFI FGFR3 TRNT XRCC4 CLCNKB BSCL2 PIEZO2 BCOR LMNB2 IFT43 PHYH SLX4 DICER1 INSR OCLN KMT2D NUP93 BBS4 ABCG8 BUB3 DHODH LRP5 AQP2 ATRX AKT3 SCARB2 ABCA12 GLA FANCI FGFR1 BRF1 RAI1 RAB18 FOXF1 EDNRB CLCN5 FLRT3 SLC25A11 EVC2 SI TBC1D20 DICER1 WNT4 DICER1 WT1 NUP133 PHC1 SOX9 FGF8 SALL4 LZTFL1 LTBP4 IFT80 UFD1 NDUFAF3 TDGF1 TMEM126B SDHD SEC61A1 LPIN2 IRF5 PTPRJ FANCE KITLG WIPF1 DLST COX6B1 HBB GANAB PKHD1 FGFR2 DCC COX14 ATP7B EP300 POU3F4 FREM1 SLC5A2 COL4A3 KIF14 EXTL3 DEAF1 COL4A3 PYGM WDPCP SLC34A1 HESX1 PIGP WAS ZFP57 IL23R FANCL CFH DIS3L2 PEX12 NCAPD3 DCHS1 ITGA3 SMAD4 MAFB NDUFV1 CFH PEX5 USP8 PCK1 TGM1 CFHR1 CREBBP PLG PKD1 PREPL IRAK1 ATRX ND6 AKT1 DNMT3A NSD2 C8ORF37 PEX2 MAD2L2 WDR19 PPP2R1A FOXP3 APC TRNL1 NODAL MSH6 DYNC2H1 KCNA1 PRDX1 PEX13 SMARCE1 ALPL NEK1 MEOX1 NDUFB3 PBX1 KCNJ10 CDKN1C PTEN RFWD3 PIGN PIGT KCNQ1OT1 COL5A2 NDUFAF3 H19 LEMD3 FGA PYGL MITF CHRM3 FAT4 TAPT1 MMUT DLL1 C3 KIF1B PALB2 NDUFS7 PDE6D SDHD CAMKMT WNT4 ACSL4 RTTN VHL ABCC8 KEAP1 SC5D SDHB STXBP1 STRADA EIF2AK3 NPHP3 MKKS FKRP ABCC6 TACO1 MCPH1 NEK8 SMARCD1 TRNF ALMS1 C1QA CDK5RAP2 TRPC6 CCDC28B ND3 PIGL C4A AVPR2 APOE AURKA AMER1 VHL FGFR3 CYP4F22 PRDM16 MRPS22 AP2S1 TP53 SLC7A9 ITGB4 COLEC11 PRKCSH APRT GDNF MBTPS2 RREB1 IFT140 TMEM237 CAD TSC2 NPHP3 PAH C1QBP WASHC5 SCN2A PC TMEM216 CYB561 TMCO1 MMUT PEX19 CFTR NDUFS1 ITGA2 NXN BBS12 LMOD1 MKS1 COL4A3 SOX10 NUP205 ZBTB16 COA8 SRY DYNC2I1 KCNJ11 FLT1 SMARCB1 RECQL4 PPP2R3C WT1 POR FAS MMACHC MBTPS2 DISP1 ROBO2 PDGFRL AXIN2 FLNA PTPN22 ASPM NRAS KYNU NAA10 TLR2 CENPF CCBE1 CDC73 WT1 GATA4 WDPCP SLC2A9 F8 FGFR2 TREX1 UBR1 GBA EBP KCTD1 TRIM28 GP1BB BBS12 SBDS SLC12A3 MAP11 REN TNXB RAD51 EMP2 NRIP1 ATN1 COL4A4 HNF1B PEX11B KLLN WT1 FH SLC17A5 ADAT3 C3 LIG4 TRNS1 IFT27 INPP5E FGFR2 EXT2 KYNU MAP2K2 UMOD APC CLCNKB ESCO2 CDC73 BRAF STAT4 PALB2 BBS7 PIGO HRAS SNAP29 TBX22 COL4A1 PLCD1 ADAMTS3 PIGL RAD51C CDH23 NDUFS4 FOXC2 LMNA SDHB SOX9 CDC42 GLMN SLC3A1 TBX1 CD96 DPH1 PTPN12 OFD1 RPGRIP1L SETD5 CCDC22 APPL1 COL14A1 IL2RG COQ8B ALOX12B ND4 WDR19 SLC6A17 PIGW SERPINF2 HELLPAR HNF1A NR0B1 DMRT3 PEX6 COPB2 NDUFB9 WDR19 ITGA8 HLA-DRB1 TRNV NPHP4 CD46 HPRT1 TP63 IFT172 CACNA1D WDR19 BUB1B RPL11 WNT4 CCN2 FAT4 SLC30A9 ANTXR1 SLC34A3 KDM6A CFHR3 OSGEP NUBPL SMS DYNC2LI1 PIGY TMEM231 LIMK1 GRHPR MINPP1 PDX1 LPIN1 NARS2 MAGI2 AFF4 LYZ NPHP4 AMMECR1 ARL6 ELN NADK2 NUP160 CEP55 IFT27 POLE H19 GBE1 TSC1 FUT8 ALDH18A1 HABP2 TBX1 SALL4 WDR4 SAA1 ADGRG2 UMOD NSDHL ZNF592 CEP135 KANSL1 NDUFV2 KNL1 ERCC8 PLG ROR2 HMGA2 GPC4 TRNQ XYLT2 NLRP3 KMT2A DSTYK ITGA8 FOXI1 CA2 WDR4 MYD88 LMAN1 LRP2 PEX1 DZIP1L GCM2 NDUFB10 SIX3 FRAS1 GP1BB CORIN AGGF1 RPGRIP1L NOD2 NUMA1 RERE UQCC2 H19-ICR MASP1 B9D1 CTU2 AGTR1 FANCB SLC1A1 FIBP PIK3CA UBR1 TRIM28 FOS PTPRO CCDC141 WT1 CPLANE1 PUS3 PAX2 CCDC141 PTPN22 RAI1 SPP1 ARMC5 IGF2 LEMD3 TRAF3IP1 HLA-DPB1 TMEM216 DHDDS MEN1 LMX1B TRNS1 CSPP1 TMEM216 TRNH PIGV HGD PEX14 IL12A WT1 ERCC4 DMXL2 FCGR2B REST SGPL1 MOCS2 CAV1 CC2D2A BBS10 SRP54 DHCR24 ABCC8 ARNT2 PCK2 BBS9 CD2AP DNASE1L3 NABP1 PDE6D HPSE2 AR ALG1 SKIV2L COA3 G6PC CFI PDGFRB INF2 ENPP1 NEUROD1 LZTFL1 ARL6 C1QC UMPS DNAJB11 CTNS BRCA2 CEP55 STXBP1 NELFA CD151 COX1 TBX1 TBL1XR1 CCND1 NSUN2 PAX2 TRRAP RPGRIP1L RAD51C LMNA BRCA1 ATP7A PRTN3 CSPP1 WDR35 ZEB2 HOXD13 TCTN2 SNAI2 SASS6 ALMS1 ETFDH ELN FGFR2 PLVAP PNPLA6 SULT2B1 F10 SON WDR19 NUP107 FAT4 LCAT KCNQ1OT1 FGF17 PIK3C2A CAV1 STRA6 IL17RA COQ6 CDKL5 NSD1 BUB1 YAP1 ARL6 ABCC6 COX2 WNT4 RET STOX1 COX20 HPRT1 USP9X INTU HDAC4 SPECC1L PPM1B IARS1 CTNS PEX3 MGME1 FAS CCND1 H19-ICR ARX ODC1 HNF1B PEX2 HSD11B2 SON NPHP1 RAG1 PRCC CEP120 SCO1 PHGDH G6PC3 SLC36A2 FGFR1 IFT80 SEC63 RBM8A MYMK GDF6 MAP3K1 SRCAP CPT2 MDM2 WWOX RAB3GAP2 HOGA1 MYH11 PET100 GLI3 PML SLC29A3 GP1BA WDR11 SCNN1B HSPG2 FBLN5 SCNN1B TMEM231 ZNF148 FRAS1 BLK SDHC SEMA3E FANCF IFT140 TBX3 KCNJ10 CHD7 CC2D2A SHH TCTN2 LMX1B CPT2 CEP290 ZIC2 MYO5B PGK1 PLEC KAT6A VDR CCND1 FANCG PPP3CA FUZ NIPBL YY1 IL7R ITGA2B FBN1 COQ7 CDKL5 NLRP3 KIAA0753 APOE ALDOB LETM1 INS FANCI PIGN GABBR2 APC2 EYA1 PIGA ACP5 ZAP70 TPRKB BUB1 MCM5 TMEM231 EPAS1 SPECC1L TFE3 SIX5 RPGRIP1L TRIM8 ASXL1 ETFA SF3B4 ALOXE3 PKD2 TRNN SMO TSC2 FGF10 BAX THOC6 TRAF3IP2 CLCN5 CEP290 ZNF423 DPF2 RPGRIP1L VPS33A NOTCH2 SLC4A4 DACT1 KLLN GANAB INPP5E WT1 PRKAR1A LMX1B CEP83 LRP4 WDR62 ANKS6 WAS OCRL CASP10 PIGT CA2 DHCR7 B9D2 RASGRP1 POGZ ANTXR1 LDLRAP1 IGF2 TMEM67 TMEM237 KIF7 EHMT1 KIAA0753 GNB1 MLH3 NOTCH3 DACT1 HNF4A INVS PQBP1 SLC3A1 FLCN ITGB4 VIPAS39 RARB CEP290 GRIP1 GLI2 WDR73 TMEM127 KAT6B BBIP1 AAGAB PACS1 PIK3CA TP53RK NDUFAF1 FBXL4 PEX13 COL1A1 FLNA HMBS TREX1 DNASE1 NOTCH2 MAX WT1 GPC3 VAC14 KIF1B USF3 DNAJC21 CCNQ USP9X BBIP1 NBN CWC27 PEX3 C1QB CHD7 CD109 EIF2AK3 ENG TKT MBTPS2 CLEC7A APC TALDO1 BSND RPL26 CIT TRIP11 USP8 WDR73 PGM3 FGFR1 FLNA SOX18 GNB1 PROKR2 KMT2D GATM FGFR3 GLI3 BCS1L HAAO TSC2 LRP4 POMT1 FAN1 B4GAT1 ARID1B PTEN STK11 CLCN5 SOX9 GPC3 MEFV OSTM1 CTLA4 BRIP1 INSL3 HOGA1 ATRX GATA3 MED25 TTC37 SALL4 YAP1 FXYD2 CHD7 MTRR PEX1 REN ND4 GPC3 MSH3 NCAPG2 STX3 TRIM32 CFH GRHPR TCF4 ALG8 BCOR TRNK NPHS1 CFI SLC7A7 HRAS SETBP1 IRF2BP2 RAI1 SLC35A2 SLC37A4 TFAP2A PTCH1 SEMA3E PIGQ CHST14 RPGRIP1 CEP120 XDH PDSS2 KCNH1 GALNT3 CLDN16 PEX10 ESCO2 NUP107 WT1 WRN DVL1 GCM2 COX8A BRAF NRAS POU6F2 RAD21 C4A MNX1 CEP290 GREB1L IL6 FLCN INF2 CTNNB1 SLC25A20 FANCA DSTYK KLHL7 RET WFS1 MST1 PEX12 DSE NDUFS6 NPHS2 SLC2A2 MET RAB23 GEMIN4 SCNN1A XRCC2 KISS1R TMEM67 WDR19 OFD1 FAM20A NTNG1 B2M CRTAP OCRL PIK3R2 WNT5A ALX4 AGPAT2 HSD17B4 DCLRE1C NPHP1 PMM2 GTF2IRD1 ND5 NDUFS8 FANCB FAS GPKOW SLC22A12 PIGY CEP57 FANCM LDLR ERCC6 CPT1A GPC4 CTLA4 MUC1 HPSE2 DIS3L2 OFD1 SDHB CLIP2 GCK COG6 COMT POR DCDC2 SFTPC XYLT1 STAT4 SLC4A1 GP1BA RMRP SLITRK6 GLIS3 SIX1 ERAP1 MAFB NDUFS2 ENPP1 BICC1 CFHR5 PDSS2 HIRA DKC1 TBCK AKT1 NPHP1 PAX6 SRY WFS1 GNAO1 TMEM107 PGAM2 SEC23B DYNC2I2 CHRM3 CYP24A1 KIF14 MDH2 GSN PLA2G2A TBC1D24 HLA-B CYTB WNT3 MKS1 TTC8 PROKR2 TRNL1 SLC6A20 PAX4 IQCB1 MEFV TMEM67 BCS1L PLAGL1 PRKCD HNF1A ADAMTS13 ND3 ARL3 CEP164 SLC12A1 STRA6 ND6 CLDN19 KMT2A COL4A1 RPS26 TTC21B ACTG2 AGXT LAMB2 CILK1 BBS10 MKS1 ARID2 SLC7A7 KCNQ1 EYA1 GCK ERBB3 ACTN4 IFT122 ADA2 FGFR2 SRC PMM2 RET TRNL1 HDAC8 LIPN THOC6 SDR9C7 PIK3CA DHCR7 RAB3GAP1 TREX1 IL17RC NPHP1 IFT172 NDUFB8 VHL TCTN3 RECQL4 PEX16 MITF SETBP1 KRAS TFAP2A CLCNKA ATP6V0A4 CPLANE1 RNU4ATAC ZIC3 B3GLCT RAI1 SALL1 CDKN1B F2 BBS5 PUF60 GREB1L DHX37 ND1 SDHD SLC26A4 TXNL4A HS6ST1 MSH2 ALDOB TRNE ND1 LAGE3 COQ2 HNF1B ATP1A1 LMNA COX10 MKKS THBD F5 LRIG2 TRIM37 HLA-DRB1 ALG9 FOXE1 FANCC H19-ICR SLC6A19 LIG4 TCTN3 COG1 MAP3K7 TBX15 H19 CFB MECP2 MFSD2A FANCB HNF4A PKD1 FANCD2 LARGE1 ADCY10 ZIC3 ADA PLCE1 CEP63 B9D1 BAZ1B TRNS2 PAFAH1B1 PCSK9 BCOR LRP5 CLCNKB FREM1 POMT2 DYNC2LI1 SMOC1 APRT COL4A5 SDHD ARX COA8 ITGB3 ACTG1 CLPB FLCN CAVIN1 PIGA FLNA ARID1B NPHP4 JAG1 FAM20A MMUT FAH ZNF423 STAT1 IFNG SDCCAG8 TBX18 YWHAE MED25 FGFR3 DYNC2I2 GLIS2 HYLS1 TACR3 TTC21B RNU4ATAC NPHS1 PIGL NDUFA6 PIK3R2 AIRE SF3B4 NPHP3 MEFV PIGV FH DPH1 SMC1A PIK3CA KAT6B CEP164 HMOX1 MEFV PLCD1 PUF60 DIS3L2 BTNL2 SPART PGM3 DUSP6 KANK2 NDUFA1 PLD1 TBC1D24 CHD7 BBS1 NDUFA11 ALG9 CASR FLII JAM3 SMARCAL1 PNKP NSMF BBS1 EP300 LEMD3 GLI3 EXT2 TSC1 ARL6IP6 SERPINH1 AMMECR1 HIC1 C8ORF37 FOXF1 BAP1 NPHP1 GP1BB F8 GDF6 TRNK DYNC2I2 PEX7 GABRD ABCC6 AGPAT2 POU6F2 PEX10 WDR73 MARS1 CSPP1 FANCA ATRX CDC73 OFD1 CLDN19 KCNJ10 NUP133 SPINK5 SLX4 HPRT1 IFIH1 SNRPB PRKCD SETD2 RPS19 SCN1B FCGR2A LAGE3 SLC26A1 CTH FEZF1 TP63 CDC73 TMEM231 TTR PDX1 STS FANCL FGF20 SOX17 GNAS DDX59 STAT5B ND2 KLF11 ARX OCRL MAP3K7 COG7 PEX7 SIX5 APOA1 IL12A-AS1 FOXH1 CASR PORCN STAT3 KIF14 COL4A4 FGF8 DLC1 CTNNB1 TRNT1 IFT43 CDK4 FKTN ITGA6 AKT1 SOX11 PRKCSH DDX59 CLCN5 KLRC4 TRIP13 PIEZO2 EVC CRB2 PEX6 TELO2 AGXT LRIG2 IFT172 DNA2 HLA-B DCHS1 FIBP NOD2 CEP290 HPRT1 SHANK3 SCO2 NDUFS2 NDUFB11 SLC25A22 VPS33A HSPA9 ADCY10 TP53 FLI1 NF1 CD46 GPC4 LIPT2 TIMMDC1 NDUFAF8 RAD21 BRCA2 GAS1 TMEM70 FASLG COX3 FANCB STRADA FAM20C ROR2 SDHA SNRPB MCTP2 PIGN ARVCF KIAA0586 INVS OPLAH TGIF1 FOXRED1 PTPN11 IQSEC2 SKI SDHC VPS33B MAPKBP1 MKKS NDUFAF4 CEP290 CISD2 B3GLCT AQP2 ZAP70 UBE2T BNC2 NPM1 SMC1A PEX1 AVPR2 PPARG STAG1 TRIM32 CCND2 TTC21B RBM10 EFEMP2 PRODH PORCN FLCN MYH9 FREM2 PTPN22 RBM10 PREPL PHEX RET GSN RFC2 IQCB1 OGG1 DCC RAF1 TSC1 CCNQ NDUFAF3 FOXP1 SOX10 EYA1 ANOS1 ERCC4 PTPN11 BBS2 VAMP7 CASR JMJD1C VANGL1 GRIA3 HBB MAFB NLRP3 PKD2 OSGEP FLNA TRIP13 SIX1 CACNA1S CENPJ PAX1 CDKN1B NAA10 TMEM126B ND5 NFIA SDHB BUB1B CLDN10 ATP6V1B1 EPG5 EHMT1 BMPER SOX4 ELP1 NR5A1 MKKS YY1AP1 NDUFAF2 LMNB2 HNF1A ARID1A RNF139 TCTN3 BRAF AIP TMEM67 POLR3A CPT2 TRNW TBX1 SPRY2 CCBE1 CPT1A HNF4A PPP1R15B SLC4A1 TRAF3IP1 CEP290 TNXB TMEM67 SEC24C BSCL2 DYNC2H1 NEUROD2 CDKN1C ANKLE2 BMP4 MAX TMEM107 SPRY4 PRMT7 COL7A1 TPRKB GPC3 PGAP2 ALG8 TTC8 PAX2 RSPO2 FANCE SHANK3 NPHP3 NDUFAF5 TMEM237 NOTCH2 TMEM67 SMARCC2 SDHAF2 PEX19 CD81 CHST14 RFWD3 PGK1 WDR35 CTNS ZFPM2 SURF1 LHX1 TMEM127 CDON NIPBL HNF4A CHD4 PHYH ACE ENPP1 RRM2B SCARB2 COQ2 DYNC2I1 NPHP1 APOB PEX5 ACVRL1 INTS1 FLCN GDF3 FH IL17RD SLC34A1 HNF1B PEX26 TRIP13 NUP85 TP53RK BRCA2 ITGA2B RIPK4 FIG4 VHL SMC3 B9D2 MAGED2 ANLN CASK XPNPEP3 TTC37 ZNF687 RERE TMEM67 TAF13 KRAS NIPAL4 MLXIPL HOXA13 RBBP8 KCNJ11 FREM2 SALL1 ATP6 NUP107 LAMB2 IKZF1 UBAC2 RARA LMX1B APC TMEM138 AGT SSR4 TCN2 MAP2K1 CHN1 DGKE VHL ND1 SMARCA4 APOL1 FIP1L1 MOCS1 NPHP3 HLA-DPA1 NEK8 SHPK ABCC8 TLR4 DVL3 RMND1 ADA DMP1 DYNC2H1 WNT3 TMEM216 MLH1 COPA PKHD1 FANCD2 BICC1 CPT2 ETFB FAM149B1 TBC1D8B SC5D GTF2I GDF2 BMPER FLNA MCC STXBP1 DNASE1L3 KCNE5 PYCR2 IL10 METTL5 SHH CRB2 SLC37A4 PTCH1 SH2B1 IGF2 CDC42 REST STAT3 TMEM260 AHI1 PRPS1 GNA11 GLI1 COL5A1 CACNA1D PTPN22 BBS4 TRNW ABCG5 AFF4 SDCCAG8 FN1 WT1 ADAMTSL1 FN1 HPS1 PROK2 WASHC5 SERPINA1 ITPR3 CEP152 MYO1E SLC12A3 PHF21A CYP27A1 SLC3A1 HNRNPU BUB1B FANCC ITGB3 DLL4 RAD54B SIK1 TBL2 SDHB TMEM216 DZIP1L RYR1 FLNB KYNU RBM8A IGF2 CEL SDCCAG8 MME ND2 CC2D2A PTH1R ARHGDIA KCTD1 GATA3 SEMA3A GP9 KCNJ5 ACTG2 LDHA TMEM231 CASR UMOD SUFU SARS2 HYMAI FLNA FLNB HMGA2 KDM6A PGAP3 SCNN1G VHL MCFD2 ACTB PUF60 COL3A1 CD96 CIT
Protein Mutations 4
C282T C677T K55R Y93H
HP:0001903: Anemia
Genes 751
STIM1 KMT2D SMARCAL1 NDUFS1 LIPT1 ATRX TCIRG1 MPLKIP NHEJ1 RAG1 BIRC3 CDIN1 CPOX RPS28 FANCL EPB42 TERT NPHP4 STK11 STAT5B STAT3 ATP11C PTH1R KCNN4 RPS27 LAMA3 AMMECR1 ITGA2B OSTM1 NDUFS8 CTSK CD59 CASP10 GSS SPTB MLX TERT RPL5 RPS10 BRIP1 ERBB3 PCCB ECHS1 KCNQ1 NDUFS7 ATRX ELANE CD81 PNP RAG2 WRAP53 ADA2 TYMP EPB41 KLF1 TRNT1 HBD MTRR CP TERT GLA DBH LAT LRBA PIEZO1 RHAG ND4 TTC7A MAD2L2 PET100 HBG2 GATA1 NDUFAF2 IREB2 SMARCD2 SRD5A3 PHGDH CFH ACVRL1 TNFSF11 AGXT TNFRSF13B HLA-B TRNQ FAM111A RUNX1 LPIN2 BCOR GCLC CFI MPIG6B CTLA4 NLRP3 SLC7A7 HPRT1 SCO2 NDUFS2 GBA RNF113A CFI IRF2BP2 ALAS2 TF GSR PLEC XRCC4 VPS33A CA2 MYD88 PKLR GBA TRNW MYSM1 SFXN4 SLX4 PCCA GP1BA DHFR CD46 COL7A1 PFKM CASK FASLG COX3 CD3G COX8A HAVCR2 GATA1 STX11 SLC19A2 DAXX AGGF1 LIPA LARS1 MARS1 NOD2 RPS28 NUMA1 BPGM RAG2 PSMB8 FANCA TFRC CLCN7 WFS1 AK1 GLA HBA1 FANCB RPL11 LYST NDUFV1 RAG1 TPP2 COL17A1 COL4A1 LAMB3 TNFSF11 XIAP HBG1 FOXRED1 TEK XRCC2 CISD2 CLCN7 PTPN22 MMP1 TNFAIP3 FAS SPP1 OCRL UBE2T SDHA UNC13D SRD5A3 ALX4 GLRX5 TINF2 RHAG DCLRE1C VPS45 TRNS1 NPM1 ANK1 ABCA1 SLC2A1 TRNH FANCB SLC4A1 CTC1 SLC19A3 HBB HBB CP TBCE SEC61A1 ICOS PRF1 LPIN2 FANCM ERCC4 FCGR2B FANCE SNX10 WIPF1 COX6B1 MMAA MTR CTLA4 LMBRD1 HBB SRP54 IDH1 COX14 STEAP3 ATP7B MUC1 NDUFA12 HBA2 ALAD STIM1 NABP1 NLRP1 COG6 IFNG STAT4 SLC4A1 TCIRG1 LYRM7 RPS14 WAS CASR RMRP CLCN7 KCNN4 PLEKHM1 COA3 FANCL RPL5 TRNT1 ERCC3 FERMT3 RPS27 RPS7 FOXP1 HBB PKLR SMAD4 CALR GSS CFH UMPS SPTB DKC1 EPO STEAP3 BRCA2 LAMC2 TNFRSF4 ZBTB24 COX1 CRIPT TBL1XR1 CCND1 NSUN2 WFS1 CFHR1 SBDS MMP1 ND5 STK11 COL7A1 RPL35A HBB ACD BRCA1 RPS29 IRAK1 ATRX TMPRSS6 HBA1 ND6 TERT G6PD FECH RMRP TARS1 FANCG IL2RB JAK2 COX15 CAT HMGCL BMPR1A MAD2L2 GREM1 RPL35 RPS17 ALAS2 SMPD1 FOXP3 LCAT KRT14 PLEKHM1 LARS2 NDUFA10 RMRP PRKCD SLC4A1 TALDO1 ADAMTS13 ACAD8 PRDX1 ABCA1 RFXANK TGFB1 ALPL SF3B1 HK1 MTFMT TERC RECQL4 RPL35A ABCB6 HBB DCLRE1C PSMB4 CIITA NDUFA2 TET2 RPS26 COX2 NDUFAF3 COX20 RPL31 RPL15 CR2 SLC4A1 IL2RA UMPS HPRT1 SLC7A7 NDUFA4 NT5C3A NFKB2 PEPD FAS SLC2A1 HAMP MMUT LAMB3 NBN NDUFA9 MTRR GATA1 ALG8 PRKCD CTC1 MMADHC RPL27 DNM1L ACTN4 COL7A1 SLC25A21 TRNL1 NPHP1 COL7A1 PALB2 STAT1 EPB42 ATRX RAG1 ITGB4 ABCB7 HBA2 ASAH1 OPA1 ABCB7 MYSM1 FANCE GBA KCNE1 CBL SDHB KIT SCO1 NDUFAF6 RPS24 TMEM67 SPTB SPTB SLC46A1 GATA1 G6PC3 NPHP1 NDUFB8 NOP10 UBE2T RFWD3 PDGFRA PGK1 POLG ZBTB20 TACO1 TRNF ATRX BRCA1 NDUFA13 YARS2 SURF1 SLCO2A1 EPB41 HBB TBXAS1 ETV6 TTC7A PET100 SAMD9 PTEN LAMA3 RPS26 GTF2H5 PML SLC29A3 PIGT F2 HBG1 GNA14 PRF1 SCARB2 COQ2 RPL26 HYOU1 PUS1 RPS29 PHGDH GCLC TNFRSF11A UROD SDHC ACVRL1 CBLIF MALT1 UROS ND1 ELANE CD19 RRM2B ORAI1 GPX1 TSR2 CD40LG IFT140 PLA2G4A CAD FANCF COX10 RPS10 HBA1 THBD HBB-LCR ABCG8 FAM111A GATA1 GTF2E2 TCN2 BCL10 NRAS PSAP TNFRSF13C PGK1 PLEC FANCC RFXAP HBA1 LIG4 FARSB FANCG TF RPS24 COG1 ZBTB16 IL7R COA8 HELLS ANK1 RPS7 KIF1B HMGCL ANK1 TINF2 NDUFAF5 SP110 CFB FARS2 HLA-B RPL27 FANCI NHLRC2 SPTA1 HBG2 IKZF1 RPL15 FAS FANCD2 TPI1 MMACHC ZAP70 RARA TCIRG1 TP53 RPS15A MTHFD1 SPTA1 ADA TFR2 DNMT3B DGKE RTEL1 ABCD3 TRNS2 EWSR1 SLC11A2 SNX10 AK2 FIP1L1 ISCU ASXL1 SAMD9L PNP PNPO F8 TRNN SLC46A1 TREX1 GYPC UBR1 GBA SHPK SMAD4 PFKM SLC25A13 COA8 EFL1 SBDS ADA SLC12A3 MVK PIGA FMO3 REN BMPR1A SLC4A1 RAD51 AASS VPS33A GALT FOXP3 TACO1 MMUT KIT FANCD2 RHAG RPS15A ACVR1 PCNT SBDS ENG PSMB9 C3 LIG4 BMPR1A YARS2 TRNS1 NFKB1 PRKAR1A STAT1 PRKACG FLI1 GDF2 TET2 KIF23 RAG2 WAS CASP10 MECOM RTEL1 LAMC2 MMAB PNPO NDUFV2 CA2 ATP7B APC KIF15 CLCNKB MS4A1 IFNGR1 IL12B IRX5 RASGRP1 RAG1 TET2 ITGB3 NPM1 SURF1 RPL18 AIRE HBB PTF1A SEC23B CDCA7 UQCRFS1 ALAS2 BMPR1A DNAJC21 UROS COX4I2 CLPX DKC1 STAT3 RPS17 MPL EPHB4 TSR2 HMOX1 WT1 SPTA1 GBA RAD51C PACS2 TKFC HBB BTNL2 DNAJC19 ADAR ENG SH2D1A THRA KLF1 ITGB4 HBA2 GATA1 TRNW COL7A1 PGM3 SPTA1 SRP54 FTCD ELMO2 ERCC2 PDHA1 CHD7 TERC ABCD4 HBB SAMD9L ADA2 HSPA9 SRSF2 SMARCAL1 PHF21A IGH ERCC6L2 IL2RG NFKB1 HBB PHKG2 STING1 NDUFS3 NDUFS2 FANCC NDUFS4 EXT2 CUBN DNAJC19 PARN IDH2 SLC40A1 NLRP3 SMAD4 SPTA1 GPI RPL35 HBA1 RBM8A DNASE1 HELLPAR FASLG TERC DDX41 HBA2 FERMT1 PIEZO1 DNAJC21 PUS1 TNFSF12 FANCA PHKA2 HBB ITK CDAN1 SDHA LYST APOA1 NHP2 HLA-DRB1 RPS14 SLC25A38 NBN PARN NPHP4 CLCN7 RPS19 CD46 TNFSF12 HPGD BTK SARS2 ENG CD55 SLC4A1 USB1 SLX4 TBXAS1 RPL11 SMAD4 MPL RFX5 PRKCD STIM1 SLC19A2 RPS19 TGFB1 TALDO1 FCGR2A DKC1 RPL26 KDM6A ALDOA GATA1 FECH TINF2 PGM3 CFHR3 EFL1 TET2 TET2 HBA2 FDX2 KRAS
Protein Mutations 4
C282Y C677T H63D V617F
HP:0000716: Depressivity
Genes 390
PDGFRB PFN1 DNAJC13 LIMK1 TRNS1 HTT LMAN2L CLN6 TSC2 FMR1 PSAP FGFR1 CPOX GBA GNAS DRD2 EPCAM NOTCH3 KISS1 ELN GABRG2 CLRN1 PON1 AARS2 PINK1 TBP ATRX RRM2B MAPT GPR35 UCHL1 PSEN1 SPRY4 PPARGC1A TACR3 FGF17 GNA11 C19ORF12 SNCA CP GLA HLA-DRB1 CHMP2B KCTD17 ND4 PDGFB MLH3 MSH2 NR4A2 USH2A ATP1A3 GIGYF2 PRNP TCF4 USH1C TRNQ DNMT1 RUNX1 HLA-DQB1 NEK1 ZC3H14 CLIP1 CACNA1G PDGFRB COQ2 TOR1A POLG GNAS OPTN MECP2 MAN2B1 GABRG2 C9ORF72 UNC13A GNRHR COX3 WDR11 GRN KCNT1 FMR1 ARVCF FBXO31 VPS13C MED25 SQSTM1 SLC6A4 MST1 MAPK1 MAPT MBOAT7 TRAPPC9 GBA ARSA ERBB4 UBQLN2 WFS1 MED23 SLC18A2 SQSTM1 PRNP ARMC5 TBP OCRL ATXN8OS TRNS1 USH1G ADGRV1 HS6ST1 GNAS GTF2IRD1 UFD1 TWNK TRNH C9ORF72 CCNF SGCE MAPT TARDBP RFC2 PLA2G6 TTC19 POLG XPR1 SNCAIP LRRK2 PRKCG DCTN1 PDGFRB PROKR2 TREM2 CLIP2 COMT GABRA1 XK TBC1D7 DNMT1 PRKACA JMJD1C NEFH SOD1 FRRS1L TRNL2 PRSS12 KDM5B DMPK CEP78 HIRA PPOX BCR VCP TARDBP EPM2A DNAJC5 COX1 PGAP1 MSH6 PMS1 MAN1B1 ND5 PRKAR1A RSRC1 DUSP6 HBB ST3GAL3 IQSEC1 CISD2 GSN ND6 EHMT1 TOR1A POLG ALMS1 LMNB1 CHD7 STX16 PRNP CHMP2B CFAP410 BCS1L PER3 TK2 TBX1 TUSC3 FA2H RPS20 AIMP1 FGF14 COX2 TREM2 DNA2 CLCN4 CPOX EDC3 CRBN GDAP2 SEC24C PAH FLT4 EPHA4 TMEM106B FGF8 EIF4G1 NSMF SLC2A1 AMACR SLC25A4 TRNL1 KISS1R FGF14 PAH RRM2B CBL ATP13A2 CHCHD10 DAO ATXN10 ADH1C CRADD PDGFB PMS2 TRNF PON2 LINS1 SYNJ1 ATXN8OS FUS PLA2G6 AP2S1 HNRNPA1 MSTO1 SNCA CACNA1H ND1 RREB1 PROK2 MYO7A SLC45A1 FUS JPH3 PODXL GLE1 SGCE GPR101 SPAST MATR3 MAN2B1 PON3 WHRN PRNP COASY PDCD1 LRRK2 GBA DCPS PDZD7 GNAS PPT1 COQ2 AIP GLT8D1 TGFBR2 MYO7A SMPD1 WFS1 PIGC KCNJ2 TWNK ANOS1 HTR2A POLG ATXN8 ABCA7 SARS1 AFG3L2 ANXA11 POLG PTPN22 RPS6KA3 SEMA4A TWNK PARK7 CC2D1A POLG2 GCH1 DGUOK HTRA2 BAZ1B TRNS2 TAF15 VPS35 ASXL1 ATXN2 HTT C12ORF4 CDH23 PCDH15 GP1BB PANK2 CACNA1G EZR HARS1 PIK3CA FAN1 FMO3 ATP1A3 MSTO1 NSUN2 PANK2 ARSG TNIK PINK1 PER2 TET3 TWNK SNCA CSF1R CLCN4 VCP GRIK2 GTF2I BMPR1A ATXN2 TET2 TBK1 TAC3 TRNN TBK1 FMN2 ATP7B SRPX2 THOC2 CRKL GRIN2A PTS VCP FIG4 NHLRC1 ARMC5 PRPH CDH23 TRNL1 CTSF ATXN10 TRNW JRK C9ORF72 CHCHD10 TBX1 GABRB3 CASR MLH1 PRKN SRSF2 CYP27A1 KRAS DCTN1 B3GALNT2 NDST1 PRNP HNMT HLA-DQB1 ANG TSC1 VAPB SLC20A2 METTL23 WASHC4 TBL2 CIB2 HMBS HMBS C9ORF72 DCTN1 PPP2R2B KCTD17 ESPN VCP POLG C9ORF72 PDE11A CBS GNRH1 PRNP TECR IDUA GNAS TRNS2 USP8 GLUD2 DNAJC6
Protein Mutations 4
A1298C C677T V158M V66M
HP:0003119: Abnormal circulating lipid concentration
Genes 290
PLIN1 DHCR7 LIMK1 KCNJ1 PIGH PHKA2 PEX19 SLC25A13 ADCY3 SLC22A5 NGLY1 LTC4S TRNE ALB PPARG ELN LCAT ALMS1 NADK2 PCSK9 LMNA TDP1 APOE LIPE ABCA1 RAI1 APOC3 SYNE2 SLC29A3 PHYH CAV1 CAV3 LMNA PANK2 TBCK HADH PEX26 GLA PNLIP APOB NSDHL BSCL2 AEBP1 LMNA PHKG2 CETP PLA2G4A TRNE UBE3B CFH LMNA PIK3R5 LRP6 PEX7 LIPE SMPD1 TRNK ABCD1 PEX3 ALB ABCG8 AGL RAI1 SYNE1 SLC37A4 CYP19A1 XRCC4 BSCL2 NPC2 HSD3B7 LMNB2 LMAN1 CIDEC AGL GYS2 LMNA CYP11A1 FBN1 HMGCL ABCA1 KCNJ11 ACADVL GPD1 HAVCR2 CYP27A1 PEX12 NUP107 PLIN1 SMPD1 STX11 CYP7A1 ABCG8 ACADL LMNA NADK2 TRMU ABCC8 RSPO1 PEX1 PEX13 DGAT1 FLCN APOA5 SLC25A20 PSMB8 LDLR PNPLA2 CYP11A1 APOC2 APTX NPHS2 MC4R PPP1R17 IQSEC2 BAZ1B PCSK9 UBR1 LDLRAP1 FOS ABHD5 GK APOB RAI1 TNPO3 MYO5A APOA5 MTTP GHR DCAF17 OCRL PPARG EBP UNC13D PEX2 DCAF17 AGPAT2 EBP SLC52A1 SLC25A13 PEX1 ABCA1 PMM2 GTF2IRD1 PEX16 PPARG CAVIN1 PEX11B PYGL NPC1 GPIHBP1 LBR TANGO2 PEX5 JAG1 CAV1 SPIB PRF1 RFC2 BSCL2 LDLR PSMB9 TMEM199 LPL CPT1A PEX12 SC5D SGPL1 HNF1A SAR1B GTF2I EMD PEX2 OCRL ZMPSTE24 PIGT XRCC4 TMEM43 LMNA XIAP DEAF1 DHCR7 PEX5 LMNA MEF2A CLIP2 MSMO1 NPHS1 PEX6 SLC37A4 LDLRAP1 G6PC STXBP2 POU2AF1 RAB27A AKT2 APOC3 PEX5 GHR DMPK TTPA UCP2 SLC25A13 LEP HNF4A PEX19 SLC25A13 LMNA CFHR1 ABCG5 LMNA ACADM LIPC LMNA IL12A LCAT CCDC115 FLII LPL CYP27A1 LEPR ALMS1 CIDEC TRNL1 PLVAP ABCA2 PHKG2 ANGPTL3 ACOX2 NUP107 LCAT IL12RB1 PEX10 TBL2 POLD1 FHL1 HMBS PEX14 TANGO2 ACAD8 DHCR24 DLD ABCA1 CEP19 CAV1 ACADVL POLR3A CPT2 CCT5 SLC12A1 PEX7 CPT1A MMEL1 AGPAT2 PSMB4 PLA2G7 AR APOA2 COG4 LIPA PHKA2 PYGL IRF5 ACAD9 APOA1 SLC7A7 CAVIN1 BSCL2 TFG CTNS ZMPSTE24 CETP SAR1B ZMPSTE24 ACAD8 TDP1 APOB PEX10 TNFSF15 ACTN4 PNPLA2 DYRK1B NSMCE2 POLR3A MCFD2 FECH ACADM CFHR3 LIPA SETX EPHX2
HP:0000365: Hearing impairment
Genes 2076
TWIST1 VPS11 CTBP1 ELMO2 CHD7 TCIRG1 MICOS13 FRG1 AMMECR1 KCNAB2 SPRY4 TCOF1 FGFR3 COX1 TBL1Y XPA FGFR3 DMXL2 DNAH1 POLG NF1 ERCC3 EYA4 KCNJ11 SOST CLRN1 ECHS1 MOGS COL2A1 NDUFS7 SPRY4 PCYT1A TACR3 NSD1 FGFR3 BPNT2 FGF17 PUS7 ARHGEF6 SHOC2 RDH12 HCCS RAB3GAP2 DMD SF3B4 GLA NR5A1 ATP8 TRNL1 NDUFS3 EYA4 MCM2 BPTF ANOS1 USH1C ARX DNMT1 ERCC3 FHL2 SIX1 CDC14A CEP57 FGFR3 XRCC4 BMP15 SLC7A14 BCOR KIT PHYH MRAS SLX4 MITF GLB1 KCNC3 SUFU GNRHR CHRNG BCOR KMT2D WDR11 SARDH BBS4 SLC19A2 HGSNAT SERAC1 COL2A1 NFIX BUB3 DHODH DDX3X ATRX HOXA2 ARSA SQSTM1 PLP1 TRMU FANCI TNNT2 PEX7 NDUFV1 RFC1 EDNRB FLRT3 SLC25A11 ARSA IQCB1 TMEM132E SOX9 SALL4 SOST SDHA DGUOK ANKH UFD1 LETM1 NUP107 NDUFAF3 TMEM126B HACE1 TWNK TARDBP GRHL2 RAC1 FGFR1 DNMT1 ATP6V1B2 SDHD TTC19 FOXJ1 FANCE KITLG DLST WHRN COX6B1 RPGR DCC COX14 TRNW PEX2 EP300 POU3F4 ALX3 DNAL1 ANKRD11 DEAF1 SIN3A TAF1A PDE4D COL4A3 HESX1 HESX1 PCDH15 ZFP57 FGFR2 TWIST1 TULP1 SMAD4 ERCC3 EFTUD2 DCHS1 NDUFV1 NOP56 C8ORF37 CAP2 BTD BCR IQSEC2 CARS2 SOX10 CERKL CREBBP ERCC2 OTUD6B MN1 CTSA DCC TRNS1 DNAJC21 SMCHD1 SOST SLC25A1 ATP6V1B2 DUSP6 FGFR3 HBB ABCA12 ATRX NALCN COCH ND6 AKT1 RRM2B DNMT3A TERT NSD2 MAD2L2 MED12 ARSL ERCC4 VPS13B PDZD7 TMC1 PRPF4 TRNL1 GUCY2D RAF1 TANGO2 SPNS2 PEX13 SMARCE1 TTC8 SLC18A3 OSBPL2 CHSY1 MTFMT MEOX1 PHEX LARS2 NDUFB3 PBX1 KCNJ10 USP7 HUWE1 PTEN RPL10 NDUFAF3 LEMD3 RIT1 NOG NIPAL4 PSMC3IP CDC45 POU3F4 TNFRSF11A HGSNAT FAT4 PRKAR1A LRP4 GRHL3 NUS1 ERCC4 TRNF ND6 ARHGEF18 NR2F1 RP1 MED12 PALB2 KISS1R NDUFS7 CRYM PDE6D SDHD NLRP12 CATSPER2 PRDM5 SH3TC2 CHCHD10 ACSL4 RTTN MCIDAS ABCC8 SC5D SDHB GBA2 EPS8 MANBA A2ML1 POLG WNT10B TACO1 SMARCD1 SDHB BEAN1 TRNF RPS6KA3 ALMS1 GUCA1B PDE6G CCDC28B ND3 PIGL CDK5RAP2 AMER1 VHL SPATA5 FGFR3 TUBB3 CIB2 FUS PRDM16 FZD2 MANBA TBCK GMNN COL11A2 COLEC11 OFD1 PEX13 SMCHD1 MBTPS2 RREB1 PDE6B PEX11B SDHC KCNQ1 LRP5 HOXA11 PEX7 C1QBP CFAP298 PHOX2B RFT1 ABCD1 PEX3 NAGA FAT4 TBC1D24 PITX2 PRDM16 PIEZO2 ALG12 RET ACTB KCNJ10 HTRA2 PEX19 NDUFS1 PEX1 ITGA2 SEM1 SPATA7 TRMT10A POMK NXN RPE65 MKS1 GALNS IGF1 COL4A3 SOX10 CYTB NAGLU COA8 MAN2B1 KCNJ11 SMARCB1 RECQL4 COQ8A MYO7A PPP2R3C CCDC39 ARMC4 VPS37A PSMD12 BCOR CNTNAP1 CNKSR2 NEU1 ERCC5 SOX10 MTHFD1 COX10 LRP2 DNAI1 GLI3 FLNA PTPN22 PEX2 COL1A2 TWNK KYNU NAA10 EDN3 MITF PIK3CA CCBE1 GJB1 COL11A2 PTPRQ SOX2 WDPCP SDHA EXOSC2 FGFR2 TBX4 UBR1 EBP PCDH15 OTOGL GP1BB SOST REV3L COL4A6 COLEC11 TPRN BBS12 EPRS1 LMX1A SYNE4 RAD51 SLC26A2 GLYCTK PTCHD1 ACSL4 PDK3 CERT1 TACO1 PGAP2 USH1C ATN1 COL4A4 PEX11B PCNT RRM2B EYS ADAT3 LIG4 IDUA TRNS1 LRTOMT IFT27 TWIST1 ERCC6 ERCC3 WBP2 FGFR2 SMC3 EPG5 TBK1 TNFRSF11A NDUFV2 PSEN2 TRNP WHRN BRAF CRKL SQSTM1 SCN5A BBS7 COLEC10 HOXB1 GJB2 TRIOBP GJB6 TCOF1 HARS2 SNAP29 RPS23 GIPC3 HOMER2 TBX22 ADAMTS3 APC ACTB RAD51C ELMOD3 NDUFS4 PAK3 OAT TNFRSF11B CDC42 TRNL1 DUSP6 GJB2 TBX1 SLC4A11 TBL1XR1 USH2A DPH1 RP2 SETD5 OTUD6B EPS8L2 LZTR1 IFT172 BMP4 GJB6 SMCHD1 PRPS1 POGZ MYO6 PRPS1 TINF2 WNT5A NMNAT1 ND4 FAM161A MGAT2 RPE65 CNTNAP2 DMXL2 BTRC PARN PEX10 ACY1 COL11A1 UBB KDSR TTC25 DMD PRKAR1A TMC1 TRAPPC4 HOXA11 NDUFB9 OTOF MERTK NRTN NDUFA13 PERP TRNV COL2A1 PSAP GNRH1 TPM2 RRAS IARS2 FAS KIF7 TP63 IFT172 NDUFB11 RAI1 RPL11 GALE CRX EXOSC8 RNASET2 MRPS2 GPRASP2 COL9A1 GTF2E2 FAT4 ANTXR1 KDM6A RPS6KA3 NUBPL SNX14 RSPH1 LRP4 NDUFS1 GLI3 PDGFRB PJVK LIMK1 LIPT1 SOX3 MARS2 MRAS SUCLA2 PSEN1 PSAP RPS28 NARS2 AFF4 FSHR SURF1 PRPF6 FGFR2 AMMECR1 NOTCH3 ARL6 PRPH2 ELN NDUFS8 MED12 MYH3 TWIST2 RRM2B GJB3 CHRNG TRNC FGFRL1 GJB2 PAX3 TBX1 NRAS DNAH9 ORC6 SALL4 TMPRSS3 RUNX2 BTK ZNF408 ALG11 ACY1 RSPH4A NSDHL XPC AIFM1 AIPL1 NDUFV2 ERCC8 TBX15 SLC5A7 USH2A ROR2 TWIST2 POLG CCDC65 TRNQ MORC2 POLR1D NLRP3 IL1RAPL1 GJA1 ATRX CLIC5 GPSM2 ARSG GJB2 FOXI1 EYA1 SLC4A11 MYD88 COL13A1 RIPOR2 LRP2 PEX1 MYSM1 SLC17A8 NDUFB10 FRAS1 EDN3 SDHD SOX2 SKI FMR1 GP1BB PITX2 RERE COL2A1 ROBO3 CTSA GZF1 COL11A2 MAPK1 MASP1 EXT1 TMPO ATP6V1B2 CNGB1 ASPM ESPN ABHD5 TRNS1 FIBP UBR1 DNAAF6 CCDC141 CPLANE1 IFT140 PUS3 TSPAN7 CCDC141 PTPRQ POLR1C RAI1 TNFRSF11B SEMA3D STAMBP FGFR2 DCAF17 HLA-DPB1 COL27A1 TNFRSF11A DHDDS RDH12 LMX1B TRNS1 ADGRV1 CSPP1 SOS2 TWNK ARSA TRNH XYLT2 PEX11B PEX6 CEP290 C9ORF72 FGFR3 RPL10 DARS2 MYO9A PEX14 RNR1 ERCC4 FLNB RHO HAND2 OTOA GJB2 KIZ PEX12 SGPL1 TWIST2 BBS10 IDUA FGFR3 ABCC8 ALOX12B NDUFA12 NSD2 BBS9 SDHA LMNA PNPLA1 GMNN FUCA1 VPS11 COA3 SUCLG1 ACVR1 LZTFL1 ABCA4 ERCC6 FGF3 BRCA2 NELFA CD151 COX1 MFN2 MYH14 GJB4 NSUN2 PAX2 GJB3 TRRAP TYMP NDRG1 PROM1 PIK3R1 BRCA1 PRTN3 DNAI1 CISD2 DNAH1 ZNF469 IDUA MET IMPDH1 SNAI2 GAA TARS1 ZNF711 PEX10 ALMS1 PRCD COX15 ELN PNPLA6 KCNE1 SLC25A24 FKBP14 KDM6A ABCB6 FAT4 EDNRB FGF17 SP7 CA4 GDI1 PIK3C2A PIEZO1 COQ6 EFNB1 BNC1 LHX3 NSD1 ERCC2 BUB1 YAP1 FOXI1 AP1S2 PCARE LRRC6 ARL6 COX2 DNAAF5 RET MYH3 COX20 TGM1 TFAP2B USP9X INTU HDAC4 SPECC1L NOG IARS1 DSG2 ROR1 FGF8 PYCR2 TWIST1 MRPS22 COL11A2 PEX2 SON AHR ADCY1 ATP1A2 TMEM38B OPA1 AMER1 USP45 DNAJC3 RRM2B ACO2 KCNE1 SCO1 NDUFAF6 PPP1CB G6PC3 TRPV4 NOP10 SURF1 FGFR1 RBM8A LSS GDF6 FTSJ1 TBX22 FGFR3 ALG11 CDH1 TAZ TRNP SRCAP TOP3A CTNNB1 DIAPH3 FGF9 TCAP DLX5 USH2A COX7B PET100 COL1A1 NAGA GJB3 SLC29A3 TXNRD2 TNFRSF11A CASK TOPORS WDR11 ATP1A3 RFT1 SCAPER EYA1 FLNA CXORF56 FKBP14 PROK2 MYO7A COL11A1 FRAS1 PEX10 EDNRB SDHC SEMA3E FANCF NECTIN1 PEX6 ITM2B KCNJ10 CHD7 VCL COX3 MAN2B1 TRNI NLRP3 TP63 SPEF2 SUCLA2 CCND1 FANCG CTNNB1 HDAC8 NIPBL ZNF469 TSHZ1 ITGA2B PTRH2 FBN1 COQ7 CDKL5 GJA1 NDUFAF5 LETM1 DHODH INS FANCI MBTPS2 TWNK TRAF7 HGF GABBR2 APC2 EYA1 FGFR1 PIGA CYP7B1 MORC2 FGF3 NRAS PNPLA2 PMPCB EPAS1 SIX5 FOXE3 PDZD7 RTEL1 PROKR2 WAC SNX10 CBL MPZL2 ASXL1 SLC44A4 MECP2 SLC29A3 TMIE GRAP CDH23 TRNN FGF10 MECOM HARS1 CEP290 NDUFAF4 DPF2 ARHGAP29 LOXL3 NOTCH2 ERCC5 EFTUD2 DACT1 TWNK ACVR1 KLLN BAG3 TTR PLXND1 TRNF GAS2L2 XPA EDNRB FGFR3 LRP4 GJC2 IDH3A TAC3 USP27X PPP1R15B PAX3 PIGT KCNN3 TBC1D24 RASA2 GDF5 DHCR7 PDE4D TK2 CACNA1A RHO POGZ IGBP1 RP9 TMEM67 SPIDR KIF7 EHMT1 PDK3 MYO7A KIAA0753 RLBP1 DNAH5 KCNJ10 RPL10 PQBP1 ACTC1 FRG1 BEAN1 FOXC1 ANKRD11 ORC4 GRIP1 NOP56 TMEM127 KAT6B ZIC1 PAX3 PTPN11 TIMMDC1 SGCD ND5 NDUFAF1 RET NDUFS3 WHCR EPS15L1 TWIST1 PRPH2 NLRP3 GUCY2D CIB2 FLNA HCCS PEPD TNC MYH9 DNAAF2 SEMA4A AP1S1 SYT2 LMNB1 NOTCH2 MAX TULP1 SNRNP200 IFT88 VAC14 KIF1B MSX1 SGMS2 ESPN VCP TRNE PEX16 GBA2 USF3 PRPS1 IFRD1 STUB1 GMPPA USP9X BBIP1 ND5 NHP2 PEX3 NDE1 CDT1 CHD7 CD109 KITLG TTN SKI IDUA TKT USP9X DLX6 PRPF31 TRNS1 MBTPS2 BTD BCS1L ACTG1 AIFM1 FLNB MYO7A BSND DKC1 TRNS2 DLX5 PDE6A TRNK PGM3 ARID2 FOXI1 FLNA FUCA1 PROKR2 KMT2D FGFR3 BCS1L CLCN4 HAAO TECTA KRAS KCNJ13 MYH7 SGSH ARID1B REEP6 GJB2 SOX9 KIAA1549 OTOG KISS1 RRAS2 CTLA4 TNNI3 NEFL BRIP1 DDX11 KCNQ1 ATRX SIX1 GATA3 COL2A1 TCF12 TYMP SALL4 KCNH1 LRP5 CHD7 COLEC10 GSC MTRR DOLK PEX1 ND4 CDH23 SLC26A4 GAS8 TRIM32 COL2A1 GJA1 COL11A2 TRNK PPIP5K2 TRNL1 RNF113A SETBP1 RAI1 SLC35A2 TFAP2A L2HGDH SEMA3E CHST14 ACTN2 ILDR1 RLBP1 EDC3 EDNRA KCNH1 PEX12 PEX10 NEK1 MAP3K7 AGBL5 CERS3 TRAPPC12 SMARCB1 COX8A PAX3 RAD21 NEDD4L CASK ERCC2 DES ALDH18A1 BEST1 FLCN RPS6KA3 SLC39A8 COL11A1 LRP12 BCS1L LAMA4 FANCA MYH9 EIF3F KLHL7 DMP1 LAMB1 WFS1 PEX12 DSE NDUFS6 ARSB RAB23 FGFR3 RDX NECTIN1 TAF1 XRCC2 CRB1 KISS1R WFS1 ASCL1 PTPN22 OFD1 OPA1 NTNG1 ABHD12 DNAAF4 BCAP31 DCAF17 MEOX1 ERCC4 OFD1 TINF2 SRP72 USH1G ARL6 GTF2IRD1 ND5 TPM1 NDUFS8 FANCB CDHR1 FGFR2 MYH3 COCH CEP57 CNGA1 FANCM DHDDS MIR96 AGRN MSRB3 TUBB4A GJB2 POLG ERCC6 NF2 TK2 GPC4 RNF13 PCDH15 DPF2 COL1A1 SUMF1 OFD1 DNMT3B SCN1A NEK2 ANKH NEBL FLRT3 MAK GALC RBM20 PHF6 CLIP2 GCK ALX3 ERCC2 BBS2 COMT POR MYO3A PEX11B GP1BA CLCN7 DNMT1 RSPH9 SLITRK6 GLIS3 SIX1 ERF TP63 POLR3H MITF MAFB GJC2 GPC4 NDUFS2 STRC MYO7A PCGF2 NEU1 ENPP1 CEP78 HIRA PEX19 DKK1 PLA2G6 BCS1L HARS1 SRY PTDSS1 CPLX1 WFS1 RAC1 DIAPH1 DVL1 TRNF SEC23B ZNF41 LRP5 CEACAM16 SOS1 RERE MDH2 GSN DNAJB13 TBC1D24 POLG PROKR2 CAT TRNL1 CHD7 SIX6 DDB2 CD164 PEX26 TRPV3 SYP NDUFA10 BCS1L PLAGL1 KCNC3 TUB ERCC6 BTK SLC26A4 ND3 SEMA3C MYH3 TGFB1 SLC9A7 PIK3R1 SBF2 SOX10 ND6 MED12 CLPP KMT2A PNPT1 COL11A1 LORICRIN RPS26 CCNO COL1A2 ARID2 NDUFA4 TIMM8A ALX1 LRRC56 EYA1 NSMF DLX4 CTC1 DNM1L FGFR2 ITGB6 TRNL1 HDAC8 NOG PEX16 THOC6 SLC33A1 ND1 OSTM1 PIK3CA DHCR7 MSX1 SNAP29 USH1C MASP1 MGP GPC4 NDUFB8 VHL ANKRD1 TCTN3 RECQL4 PEX16 MITF SNAI2 SALL4 MYBPC3 ERCC5 TFAP2A NDUFA13 CCDC50 SMPX CLCNKA ATP6V0A4 CPLANE1 CFAP221 KIF7 B3GLCT RAI1 SALL1 HCFC1 CEACAM16 ERCC1 DMXL2 COX7B STK36 BBS5 IDH3B MSTO1 LMNA GJB2 MYO6 MFN2 ND1 SDHD SLC26A4 MAP3K20 TXNL4A HS6ST1 TSPEAR NME8 TRNE ND1 GATAD1 HNF1B GAB1 BMP2 NAXD SLC39A8 COX10 EDN3 PNPT1 SLC26A5 CHSY1 EYA4 PRKDC ADPRS FANCC TNNC1 OPA1 COG1 GJB2 POU4F3 GRXCR1 MAP3K7 MARS2 DAB1 PEX6 MECP2 FXN WFS1 ANOS1 RPGR MYH14 FANCD2 SIX1 TCIRG1 CDH23 CLDN14 POLG MFN2 USH1C DVL3 POLG2 GCH1 GBA2 DGUOK BAZ1B TRNS2 NDUFS4 SIN3A CYP7B1 COL11A1 BCOR THRB CLCNKB PIGO PPCS COL4A5 BCAP31 ACTB TP63 COA8 CASK DLG1 FLNA ARID1B TMEM126A PMP22 ALOXE3 PLCB4 SOX10 COL9A3 MARVELD2 TP63 CDK8 RGR SDCCAG8 MAP2K1 CCDC151 PAX3 TRRAP GJB2 FDXR PTEN CRYAB MPDZ GNPTAB TACR3 IGBP1 CHST3 ACTG1 IRX5 ZBTB20 PIGL NDUFA6 SURF1 POLR1D MPZ SF3B4 KLHL7 PRPS1 PIGV SLC52A2 SQSTM1 RPGRIP1 ALG13 KAT6B AKT1 NFIX KRAS SLC25A24 BRAF PGM3 DUSP6 NDUFA1 ERCC2 PDHA1 BBS1 NDUFA11 PAX3 FLII LDB3 FRMPD4 MAP3K7 CCDC40 CSRP3 NSMF BBS1 COL2A1 NDUFA9 NDUFS2 ECE1 OPA1 DIABLO CHAT EDNRB ATP2B2 AMMECR1 HOXA1 C8ORF37 RECQL4 NPHP1 ARL3 GDF6 TRNK LRAT WFS1 PEX7 GABRD ADK PDE1C TP63 RSPH3 SMARCA4 FANCA SUMF1 OFD1 LHFPL5 HYDIN NOTCH3 COL11A1 KCNJ10 POMGNT1 PSAP COL11A1 SLX4 SNRPB SETD2 PNPLA2 SLC19A2 TGFB1 PEX1 PDZD7 GNAS TBL1XR1 NEXN TRAPPC11 FEZF1 PLAA TP63 IRF6 CRB1 ZNF81 DNAH11 RD3 S1PR2 HACE1 NKX2-1 SLC39A14 SPAG1 MPLKIP PDX1 PCDH15 FGFR1 FANCL ND2 COL9A2 RAF1 MAP3K7 COG7 PEX7 SIX5 IFT140 ARID1B PNPLA8 FGFR2 ECHS1 MED13L PORCN UGT1A1 PNP STRC ATP6V1B2 WRAP53 STAT3 RAB39B DNAAF1 FGF8 TRNT1 GFER PNPT1 PRDM5 TRNK UFM1 BRAF GDF5 TRNK PMP22 SOX11 PET100 NDUFAF2 PEX6 TELO2 ATP8B1 HSD17B10 DCHS1 COL2A1 GMPPB FIBP COL1A1 SHANK3 SCO2 NDUFS2 NDUFB11 MGP POLG MAN2B1 TIMMDC1 NDUFAF8 NARS2 COX3 FAM20C SDHA SNRPB MEGF8 MCTP2 PEX1 LARS1 ARVCF CRX MID2 COL9A2 MITF KIF5A SMCHD1 LRP5 FOXRED1 PRRT2 PTPN11 IQSEC2 SKI RBP3 TNFSF11 NOG ADGRV1 SDHC AAAS ZNF513 FOXRED1 GALC CREB3L1 NDUFAF4 CISD2 TRNQ B3GLCT CCDC103 CLCN7 NOG UBE2T PRPS1 REST MAF GJB6 SMC1A PEX1 EDN1 HS6ST1 PEX16 GJB2 CHCHD10 GDNF SOST COL10A1 SLC19A3 CTNND1 PORCN PEX5 MYH9 RBM10 RET SLC52A2 PEX19 RFC2 PSMD12 MYPN NOTCH3 LCA5 GJA1 RAF1 SNAP25 DSPP GAS8 FOXC1 PRPF8 SOX10 EYA1 PROKR2 DVL1 ERCC4 ACOX1 PTPN11 FGFR1 BBS2 PEX6 MYCN JMJD1C ST3GAL5 PEX13 GFER TRNS2 PEX5 NLRP3 FLNA PSAP SIX1 DVL3 NRL PAX1 NAA10 IDS POLR1C COL1A2 ND5 TRNH SDHB BUB1B TIMM8A ATP6V1B1 EYA1 CACNA1D EPG5 EHMT1 CDH11 PTPN11 DLX5 SOX4 HSPD1 CARS2 TRNS2 MKKS FLNA NDUFAF2 NDP LMNB2 ARID1A TCTN3 BRAF ABCC9 ATP1A3 PYCR2 CDC45 TK2 TRNW NR2E3 GJB2 SOX2 CDC6 TBX1 CCBE1 CDH1 SLC52A3 PPP1R15B GBA NDUFA2 ESRRB TRPS1 PIGS GSDME DDX3X AHDC1 RUNX2 GMPPA GNAS SEC24C DNAJC3 BMP4 ATP6 CEP250 FGFR2 FTO SYT2 NDUFA9 SPRY4 GJB1 NOG PRMT7 COL7A1 DCDC2 DNAAF3 SLC25A4 TPRKB CLRN1 GPC3 PLS1 LRAT CLRN1 TTC8 PAX2 FANCE SHANK3 NDUFAF5 VAMP1 AARS1 NAGA SMARCC2 GRXCR2 CATSPER2 SDHAF2 STAG2 FKTN CHST14 RFWD3 ELAC2 KARS1 ZBTB20 MYO15A ASPA UPF3B TRNQ SURF1 LHX1 SLC10A7 NIPBL NF2 HNF4A GTF2H5 CHD4 RPGR PHYH PEX26 COQ2 GNS SDHD PEX5 ARL2BP HSD17B4 RRM2B TSR2 GDF3 FH IL17RD HNF1B LONP1 PEX26 COL11A2 SNX14 TRIP13 CNOT1 SALL4 SLC26A2 CFAP300 PRPF3 FAM149B1 WHRN FIG4 SMC3 MFN2 GTF2E2 ACOX1 XPNPEP3 RERE SELENOI NRXN1 ZMYND10 TAF1 TRNV PDZD7 MLXIPL RNASEH1 FREM2 SALL1 ATP6 FGF3 PCLO FARS2 PEX12 GJA1 IGF1 PRRX1 GNAI3 PEX13 GJB6 DNAI2 ORC1 POLG LMX1B APC NEK10 SERPINB6 UBE2A PCNA YME1L1 TECTA LHX3 CHN1 VHL ATP6AP1 ND1 GJB6 RDH5 PEX26 SMARCA4 ABHD5 NDP IL17RD AHI1 AK2 EDN1 ZIC1 TP63 SAG NDUFB11 TRNK PEX2 P2RX2 HLA-DPA1 SLC25A4 PLN PLOD3 PRPS1 SOST RMND1 CFAP300 NLRP3 DMP1 MAF MSTO1 TANGO2 SPATA7 ARSG TRNL1 FANCD2 TRMU PEX14 FAM149B1 LRP5 GATA1 GDF6 SC5D FGFR3 COX2 GTF2I IMPDH1 DHX38 STRC MECOM KCNQ4 STXBP1 DNASE1L3 KCNE5 ESRP1 FGFR3 PEX6 COG5 NPM1 CEP78 COL9A1 BRAF IARS2 STAC3 CDC42 SLC29A3 SOX10 TCF12 COX15 AGTR2 PRPS1 CDCA7 DUX4 TTC12 MPZ PTPN22 TWNK EBP TRNW AFF4 SDCCAG8 USH1G ADAMTSL1 GATA2 TERC ORC1 PROK2 LONP1 ARNT2 PAX1 FIG4 DLG3 FANCC NDUFS4 ITGB3 DNAJC19 ERCC2 ROM1 AIFM1 TBL2 OTX2 IRF6 POLD1 RNF135 SDHB AHSG OPA3 TMEM216 PEX14 FLNB KYNU DNAAF3 PEX3 BMP4 DRC1 ND2 PTH1R BDP1 ARHGDIA FSCN2 TRNS1 ZIC1 TCIRG1 GATA3 SEMA3A AP1B1 FBN1 IMPG2 CCDC114 BTK HYMAI LOXHD1 TELO2 SMAD4 SNAI2 STAC3 USB1 CABP2 ZMPSTE24 KDM6A MYH6 SPATA5 VHL GUSB AP1S2 PUF60 COL2A1 PEX1
HP:0002664: Neoplasm
Genes 1515
EPCAM BAP1 CYLD WT1 CTBP1 GLI3 CTNNB1 ELMO2 ATRX TERT EDN3 MTAP TSC2 RAD51 BLNK KCNAB2 WDPCP SPINK1 ARID1B PTEN STK11 XPA PTH1R TCF4 EPCAM NF1 GPC3 ERCC3 MC1R CASP10 PDGFRA RPL5 CDH1 BRIP1 RUNX1 KRAS SFTPC GPR35 MYLK STS DYNC2LI1 RAG2 CBL FOXE1 STAT3 TTC37 ABL1 NSD1 ATM KCNH1 GPR101 IGH KRT17 SUFU TERT KRAS GPC3 CYP11B2 MLH3 PTCH1 FAH MSH2 EXT1 CCND1 MSH3 ATP7A SEC23A PHOX2B HAX1 MYD88 LMO1 PIK3CA PRLR AXIN1 TCF4 RUNX1 AKT1 ERBB2 REST DCLRE1C SERPINA1 ERCC3 TMC6 RASA1 MSH3 TRNL1 CALR HRAS INS RNF113A SETBP1 CDH1 SLC37A4 TFAP2A CDH1 PTCH1 KIT PTEN IL1RN MLH3 MUTYH PTEN KIT GBA BCL2 KCNH1 GINS1 ESCO2 TET2 SLX4 DICER1 PALB2 NEK1 ESCO2 COL7A1 PTCH2 WT1 WRN GCM2 BRD4 BRAF TREX1 THPO SUFU NRAS CDC73 POU6F2 GNAS DAXX BUB3 RSPO1 MNX1 ERCC2 RPS28 ANTXR2 CTNNB1 POT1 FANCA KDM6B RET MST1 NOTCH3 FGFR1 KRAS LYST CHIC2 TMC6 MET KRT10 UROD SLC25A11 ARSA EVC2 TEK XRCC2 CASP8 ASCL1 IL1B TERF2IP DICER1 MPL OFD1 RHBDF2 DICER1 MDM2 WT1 MMP1 CDKN2A FGF8 NR4A3 FGFR2 OCRL TP53 ERCC2 SUFU ERCC4 ALX4 TINF2 DCLRE1C SRY SRP72 NF2 GNAS LETM1 TP53 FANCB TAL1 TDGF1 BRCA1 LEMD3 NF2 BRAF NUP214 RAD21 COL18A1 SDHD ICOS CEP57 BAP1 FANCM PTPRJ FANCE SLC22A18 PIK3R1 JAK2 FLT4 SMO WIPF1 DLST NF2 RAD50 MEN1 CHEK2 GPC4 WDPCP CYP2A6 HBB GANAB XRCC4 TET2 ATP7B EP300 DIS3L2 HFE CARD14 OFD1 ALX3 VANGL1 BAP1 SDHB EXTL3 PIK3CA GATA2 ALX3 BCL10 KIT WAS FGFR2 RMRP TWIST1 BMPR1B DIS3L2 ERCC3 FOXP1 SMAD4 CALR APC PCGF2 USP8 DMPK NRAS DKC1 BRCA1 ADAR BCR RSPO1 SLC45A2 GJC2 TNFRSF4 AKT1 IFIH1 MSH6 DICER1 PAX6 TGFBR2 SRY KLHDC8B CPLX1 MSH6 AIP PMS1 CREBBP ERCC2 CTSA APC MMP1 SH2B3 PKD1 TRNF SEC23B DNAJC21 STK11 BCR HBB MITF IGLL1 ALX4 MDH2 AKT1 SCN4A SDHAF2 PRKN PLA2G2A RNF43 DNMT3A TERT NSD2 RMRP FANCG BRCA2 CAT TP53 BMPR1A MAD2L2 SIX6 DDB2 GREM1 KRT17 PAX4 RPS17 TRPV3 ERCC4 C11ORF95 APC IL12RB1 BRIP1 PPM1D SDHB NODAL HNF1A FLT4 MSH6 ERCC6 BTK SLC26A4 SEMA3C AR NEK1 TERC RPL35A RPS20 CDKN1C SF3B1 TERC PTEN RFWD3 BRCA2 KCNQ1OT1 RPL10 ACTG2 MAGT1 ALK BLM H19 LEMD3 RPL31 MLLT10 PYGL RPL15 IRF1 CR2 MITF PTEN MYC PTPN11 TUBB TCF4 KCNQ1 NFKB2 ALX1 HLA-DRB1 APC EWSR1 NBN CDKN2A ERCC4 GCK DLL1 SLC25A11 PDGFB L2HGDH PRKCD CTC1 PIK3CA SUFU RPL27 KIF1B SRC CIB1 RECQL4 CDKN2B MSH3 BRCA2 PALB2 PDE6D SDHC SDHD CCL2 CHEK2 PMVK XPC STK11 PIK3CA MVD DHCR7 KIT GPC6 KARS1 MNX1 VHL TUBB NAB2 KEAP1 TSC1 NQO2 APC SDHB VHL TCTN3 RECQL4 PMS2 RAD51C STAG3 SNAI2 MAP3K8 SETBP1 SDHB NPM1 RAD51C RARA ERBB2 ERCC5 ATRX CHEK2 KRAS BRCA1 TFAP2A SLCO2A1 PHOX2B PTEN COL2A1 PIGL PDGFRA APC CPLANE1 AURKA SDHD LAMA3 VHL RPS26 GFI1B CDKN1B PRDM16 AXIN2 FZD2 AP2S1 LZTR1 TP53 TP53 GNA14 CTNNB1 MSTO1 PIK3CA RPS29 CALR DHX37 MYF6 SDHC MALT1 ELANE SDHD SLC26A4 MAP3K1 GDNF MSH2 SDHC TGFBR1 RUNX1 CREB1 CDKN2A TSC2 KRAS TNFRSF10B LMNA WWOX PHOX2B EDN3 RPS10 RSPRY1 TRIM37 RET MEN1 BCL10 MSH2 TNFRSF13C FOXE1 FANCC H19-ICR BLM ERCC6 LIG4 BDNF LMOD1 NF2 TMEM107 CYLD GJB2 EXT1 CTSC PHOX2B RAD51D RASGRP1 RB1 TGFBR2 SRY MYH8 KRAS TINF2 RECQL4 H19 PRF1 GDNF MXI1 SMPD1 WT1 HRAS COL1A1 PDGFRB FAS FANCD2 NF1 DISP1 PDGFRL IKBKG BIN1 BRCA2 ADA POLE AXIN2 SEMA4A KRAS NRAS PALB2 CHEK2 ASCL1 POLE TLR2 PIK3CA MINPP1 SOS1 CYLD CTLA4 POT1 ASXL1 CDC73 APC SAMD9L WT1 TRAF7 GATA4 PIK3CA DYNC2LI1 ATP7A CBFB MST1R GCGR MPL COL4A5 SMAD4 CDKN1A SDHD TRIM28 POLH GPR101 PIK3CA FLCN GPR143 RB1 SBDS SLC12A3 KLF6 ICOS GNB1 PIGA TYROBP GFI1 RAD51 SLC26A2 MC1R TREM2 SFTPA2 JAG1 BAP1 EGFR IGH KIT PLCB4 NLRP1 HNF1B ZFHX3 EPHB2 KLLN OCA2 WT1 FAH FH TERT SRD5A3 LIG4 NFKB1 RNF43 KIT STAT1 IFNG BMPR1A ERCC3 TBX18 TET2 MAP2K1 EXT2 HRAS RTEL1 FGFR3 PTEN CTNNB1 MAP2K2 MEN1 APC CLCNKB AKT1 ESCO2 CDC73 MS4A1 BRAF CRKL NUTM1 CDK4 NTHL1 ETV6 TET2 SQSTM1 FAM20C PIGL SEC23A ATM PALB2 TYR SRSF2 EXT2 GJB2 DNMT3A HRAS TCOF1 CHEK2 CDH1 FH DKC1 POLE PIK3CA PTCH2 AKT1 PAX3 FH ADAMTS3 APC PMS1 RAD51C PLCD1 PUF60 DIS3L2 CDH23 SCN9A FOXC2 SMARCB1 CDKN2A VANGL2 ENG SH2D1A SDHB SOX9 BRAF SDHA PGM3 ERCC2 GJB2 TBC1D24 CHD7 MPL DHH PTCH1 CALR IL12A TNFRSF13B CD28 MLH1 PTPN12 OFD1 MLH3 REST CCDC22 APPL1 COL14A1 IGH PSENEN IL2RG MC1R SMARCA4 CYLD KIF11 PHKG2 JAK2 COL2A1 AXIN2 FLNA WNT5A TYR EP300 GLI3 EXT2 MGAT2 KCNE3 ECE1 PARN IDH2 TSC1 ARL6IP6 FGFR3 SMAD4 HMBS SLC6A17 PRKAR1A BAP1 KDSR DHCR24 CXCR4 DDX41 GABRD RET NR0B1 DMRT3 CCND1 GDF5 POU6F2 CTLA4 TBXT FANCA NRTN PHKA2 KIT ITK RNASEH2A PERP CDC73 OFD1 CYP2D6 RET MEN1 CD27 PARN FUZ RPS19 MSH2 SMARCE1 TNFSF12 ZSWIM6 TERT RHOH NF1 BUB1B SLX4 LIG4 PDGFRL TNFSF15 OPCML APC PRKCD SETD2 RPS19 BRCA1 FAT4 ANTXR1 WNT10A SUFU TP63 EFL1 IL7 MN1 DOCK8 CDC73 SSX1 TMEM231 MPLKIP VHL MINPP1 BIRC3 PDX1 STS PSAP HNF1A JAK2 FANCL POT1 GNAS TERT CD79A KLF11 WRN MAPRE2 LIG4 CYSLTR2 DNM2 SH3GL1 KIT FOXH1 RELA KRAS PRKAR1A ERBB3 FGFR2 H19 TJP2 CD81 PNP MSH6 WT1 THPO ATP6V1B2 GNAQ BRCA1 WRAP53 ERCC3 CHRNG KRT14 TSC1 DLC1 CTNNB1 FGFRL1 SDHC GDNF HABP2 NRAS ATR TRNK BMPR1A TERT BRAF AKT1 XPC FGFR3 NUP214 TRIP13 SMARCD2 ZSWIM6 PIEZO2 EVC IL6 HRAS GPC4 TNFRSF13B PALLD CDKN2A POLR1D TP53 FOXO1 BRCA2 FIBP CDH23 RB1CC1 B3GALT6 FLT3 GJA1 SH2B3 MRAP MTOR AR FOXI1 TP53 GNAQ KRT6B MYD88 KRT16 TP53 NF1 MYSM1 MGMT KIT NF1 GPC4 GCM2 SIX3 PIK3CA RAD21 HRAS PMS2 ASCC1 BRCA2 GAS1 FASLG SDHD NRAS C2CD3 KDR SDHA SMAD4 SOX2 NBEAL2 SRGAP1 AGGF1 ATM AKT1 RPGRIP1L NOD2 BAX BRCA2 H19-ICR TGIF1 MAPK1 ESR1 EXT1 RPL11 KRAS BCL10 SKI LAMB3 XIAP SDHC HABP2 TRNS1 CCM2 FIBP PIK3CA TRIM28 HRAS SCN10A NF1 WT1 CPLANE1 HFE F5 C2CD3 GNPTAB TBX2 KLF6 GATA2 VEGFC RNASEH2B CBL SEMA3D ARMC5 CXCR4 JAK2 IGF2 FGFR2 NRAS UBE2T ARHGAP26 SCN11A MEN1 LMX1B F13A1 BCR COMP EDN1 SDHC ACTB GDNF CDKN2C ASPSCR1 NAGS PDGFRB PALB2 DLEC1 BCL10 STAR GNA11 PORCN RNR1 FLCN SPIB WT1 RET SDHB SLC22A18 ERCC4 CDKN2A CTHRC1 DLST OGG1 POLD1 DCC IL2RG REST SRP54 RAF1 TSC1 SRP54 IDH1 ACD KIT ACAN NSD2 TOP2A CASP10 DVL1 PTPN11 CASP10 STIM1 KRT9 AR CIB1 GNAS AR VAMP7 MRE11 GFI1 RPS14 BCL10 CACNA1S TP53 VANGL1 SKIV2L PTCH2 G6PC LRP5 PDGFRB BARD1 RPS27 RPS7 GNAS ENPP1 STAT6 ACVR1 MTM1 NEUROD1 TNFRSF13C PKD2 RUNX1 STK11 FGF3 TRIP13 SIX1 BRCA2 LAMC2 NELFA DVL3 GJB4 NSUN2 CDKN1B CTNNB1 POLR1C GJB3 SMARCB1 SBDS LMNA KRAS TRNH ECM1 STK4 ANTXR2 SOS1 BAP1 MSX2 DICER1 SDHB ACD WRAP53 BRCA1 ATP7A BUB1B RYR1 RET BRCA2 TP53 DPM1 BRCA2 BCR POLD1 TCIRG1 PTPN11 HOXD13 CR2 TARS1 JAK2 BMP2 MUTYH FLT3 TRNS2 MTMR14 NR5A1 ABCA5 RET AHCY TSC2 KIT KCNQ1OT1 RNF6 RAD54L HNF1A HMMR RNF139 WWOX TCTN3 BRAF FCN3 RNASEH2C AIP PRKN SF3B1 MSH6 NSD1 PTCH2 CCBE1 RECQL4 PMS2 ERCC2 HNF4A MMEL1 BUB1 TET2 TRPS1 ABCC6 RET IRF5 CDKN2B PDGFB USP9X TAL2 INTU GNAS HDAC4 MFN2 DYNC2H1 PIK3CA PLAG1 ATM MAX FAS PIK3CA CYP11B1 CCND1 H19-ICR PTCH1 MUTYH ABL1 ODC1 FGFR2 COL7A1 MSR1 BRCA1 RB1 TNFRSF1B COL7A1 FLT4 GPC3 TGFBR2 ATRX RAG1 PRCC BRAF TNFRSF1B FANCE RAD54L CBL SDHB TERT SDHD RPS24 FASLG MET KRT17 GATA1 ERBB2 FGFR1 KAT6B ABCA5 SDHAF2 SLC25A13 NOP10 GATA2 RFWD3 PDGFRA SPRTN MLH1 NKX2-1 IGF2R CD19 MAP3K1 TREX1 TRNP ZFPM2 CTNNB1 TRNQ WWOX IGHM MYH11 TMEM127 CDON NF2 SAMD9 PTEN RNASEL IDH2 HNF4A GTF2H5 GLI3 HRAS LPP DDB2 KIT PIK3CA PDCD10 HSPG2 HFE RPL26 BRIP1 ASXL1 SDHD CEBPA ACVRL1 NRAS CD19 GNAQ TET2 TCTN3 SMARCB1 FLCN ABCB11 BLK RAD54B SDHC FH AKT1 ANTXR1 FANCF HNF1B EXOC6B SAMHD1 SHOX MYO1H COL11A2 KCNJ10 TRIP13 CC2D2A LZTS1 SEC23B GPR101 DOCK8 BRCA2 NBN SLC26A2 SPRED1 VHL KRT1 LIN28B GTF2E2 NRAS ZIC2 SNAI2 SH3KBP1 SHOX BCL6 NTHL1 RHBDF2 CD28 MCM4 CCND1 FANCG SMARCAD1 GATA2 RERE YY1 ASXL1 IL7R TMEM67 C1S TAF1 FGFR3 NBN KRAS KIF1B AIP KCNJ11 LETM1 FANCI MLH1 MBTPS2 NRAS NEK9 GNAI3 APC2 EYA1 ZAP70 EXT2 BUB1 SSX2 LIG4 CARMIL2 SLC17A9 TMC8 PCNA EPAS1 TFE3 BRCA2 DHH MAP2K1 CASP8 CDK4 PDGFB RTEL1 EWSR1 PTEN VHL GJB6 NDP RNF6 TNPO3 TGFBR2 TXNRD2 PNP TAF15 TRNK SMO NOTCH1 LRRC8A RASA1 TSC2 ABCC8 PRKAR1A BAX IDH1 SLC22A18 ADA FAN1 TG PTEN BMPR1A MSTO1 ERCC5 IRF1 MLH1 NRAS MLH1 PICALM FANCD2 SF3B1 BICC1 RPS15A TERT KLLN ELANE FAM149B1 GATA1 SASH1 INPP5E TP53 WT1 BMPR1A PTPN11 PTPN11 MYCN XPA EDNRB TP53 FLI1 GDF2 PHB BMPER FGFR3 PTEN MCC EXT1 MC2R KCNN3 DNASE1L3 DHCR7 RASGRP1 SHH NPM1 SLC26A2 SLC37A4 IGF2 RPL18 SH2B3 PTCH1 BRAF PAX7 INHBA BMPR1A KIF7 XRCC3 IGF2 POU2AF1 DNAJC21 CYP26C1 RB1 MPL REST KIAA0753 DNMT3A ERCC6 MUC5B MLH3 ASXL1 MPL NOTCH3 KCNJ10 SMARCE1 TSR2 RPL10 KRT1 SLC25A13 WT1 NNT TP53 GNA11 GLI1 BARD1 FLCN COL7A1 SRP54 GLI2 EDN3 PTPN3 WT1 TMEM127 CD79B GATA2 TERC FN1 EIF2AK4 RAD51 WASHC5 SAMD9L AIP TP53 AAGAB RB1 TP53 KRT5 ADA2 HSPA9 PIK3CA SRSF2 PHF21A IDH1 KRAS KRAS CHEK2 BUB1B RET FANCC TP53 WHCR RAD54B NUMA1 SDHB HMBS TMEM216 SMAD4 MAFA MSH2 RPL35 CDKN1B IGF2 PPP2R1B CD70 CEL MAD1L1 MAX ALK GPC3 FERMT1 KIF1B TCF3 POLH PIK3R1 USF3 FDPS MYC DNAJC21 TNFSF12 HACE1 CDH1 SDHA ND5 NHP2 PIK3CA RPS14 NBN WNT10A ING1 CASR SUFU FGFR3 HPGD BTK ENG DCC CASP8 PHOX2B STAC3 USB1 KRIT1 PHOX2B TET2 SMAD4 JAK2 BCHE APC MVK SMAD7 SMO DKC1 SMARCB1 VHL F13B TINF2 USP8 FGFR1 FOXI1 TET2 CD96 TET2 JAK2 KRAS