MTHFR - methylenetetrahydrofolate reductase Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4524

About MTHFR

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:11,785,723-11,805,964 (from NCBI)

This gene has 19 transcripts (splice variants), 205 orthologues, 4 paralogues and is associated with 21 phenotypes. Ubiquitous expression in lung (RPKM 7.5), thyroid (RPKM 7.2) and 25 other tissues.

Summary

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon Cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]

MTHFR Products (3)

mRNA	Protein	Name
NM_001330358.2	NP_001317287.1	methylenetetrahydrofolate reductase isoform 1
NM_001410750.1	NP_001397679.1	methylenetetrahydrofolate reductase isoform 3
NM_005957.5	NP_005948.3	methylenetetrahydrofolate reductase isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables flavin adenine dinucleotide binding	IDA IDA: Inferred from direct assay	12673793	GOA
enables methylenetetrahydrofolate reductase (NAD(P)H) activity	IDA IDA: Inferred from direct assay	12673793	GOA
enables methylenetetrahydrofolate reductase (NAD(P)H) activity	IGI IGI: Inferred from genetic interaction	10551815	GOA
enables methylenetetrahydrofolate reductase (NAD(P)H) activity	IMP IMP: Inferred from mutant phenotype	12673793	GOA
enables modified amino acid binding	IDA IDA: Inferred from direct assay	20031578	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA
enables protein-containing complex binding	IPI IPI: Inferred from physical interaction	24769206	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of heterochromatin organization	IDA IDA: Inferred from direct assay	24769206	GOA
involved in homocysteine metabolic process	IDA IDA: Inferred from direct assay	20031578	GOA
involved in methionine metabolic process	IGI IGI: Inferred from genetic interaction	10551815	GOA
acts upstream of neural tube closure	IMP IMP: Inferred from mutant phenotype	25855017	GOA
involved in tetrahydrofolate interconversion	IDA IDA: Inferred from direct assay	12673793	GOA
involved in tetrahydrofolate interconversion	IGI IGI: Inferred from genetic interaction	10551815	GOA
involved in tetrahydrofolate interconversion	IMP IMP: Inferred from mutant phenotype	12673793	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTHFR Protein Structure

MTHFR

0
200
400
600
656 a.a.

Protein Preferred Names	Protein Names
methylenetetrahydrofolate reductase	5,10-methylenetetrahydrofolate reductase (NADPH)

MTHFR Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P83513	MTHFR Antibody (YA3258)	WB, ICC/IF, IP	Human, Mouse
HY-P83513A	MTHFR Antibody (YA3258)(PBS only)	WB, ICC/IF, IP	Human, Mouse
HY-P85287	MTHFR Antibody (YA4979)	WB, IHC-P, ELISA	Human, Rat
HY-P85287A	MTHFR Antibody (YA4979)(PBS only)	WB, IHC-P, ELISA	Human, Rat

Related Diseases

Diseases	Alias
Homocystinuria Due To Deficiency Of N -Methylenetetrahydrofolate Reductase Activity	Homocystinuria Due To Mthfr Deficiency Methylenetetrahydrofolate Reductase Deficiency Mthfr Deficiency Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency 5,10 Alpha Methylenetetrahydro-Folate Reductase Deficiency 5,10-Alpha-Methylenetetrahydro-Folate Reductase Deficiency Homocysteinemia Due To Methylenetetrahydro-Folate Reductase Deficiency Homocysteinuria Due To Methylenetetrahydro-Folate Reductase Deficiency Methylenetetrahydro-Folate Reductase Deficiency Methylene Tetrahydrofolate Reductase Deficiency MTHFRD 5,10-Methylenetetrahydrofolate Reductase Deficiency
Neural Tube Defects, Folate-Sensitive	Neural Tube Defects, Folate-Sensitive, Susceptibility To Neural Tube Defect, Folate-Sensitive NTDFS Ntd, Folate-Sensitive Neural Tube Defects, Susceptibility To Neural Tube Defects
Thrombophilia Due To Thrombin Defect	Venous Thromboembolism Venous Thrombosis Thrombophilia Due To Factor 2 Defect Thromboembolism THPH1 Thromboembolism, Susceptibility To Venous Thromboembolism, Susceptibility To Venous Thrombosis, Protection Against Prothrombin-Related Thrombophilia Hyperprothrombinemia Venous Thrombosis, Susceptibility To Thrombophilia 1 Due To Thrombin Defect F2-Related Thrombophilia Factor Ii-Related Thrombophilia Prothrombin 20210g>A Thrombophilia Prothrombin G20210a Thrombophilia Prothrombin Thrombophilia
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Spasticity
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Homocysteinemia	Hyperhomocysteinemia
Myelomeningocele	Meningomyelocele
Isolated Exencephaly
Isolated Anencephaly
Vascular Disease	Vascular Diseases Aneurysm Spinal Cord Ischemia Vascular Anomaly Spinal Cord Vascular Diseases Vascular Tissue Disease
Homocystinuria	Cystathionine Beta Synthase Deficiency Homocysteinemia Cbs Deficiency Cystathionine Synthase Deficiency Cystathionine Beta-Synthase Deficiency Disease
Retinal Vein Occlusion	Occlusion, Of Retinal Vein
Upper Thoracic Spina Bifida Cystica
Cervicothoracic Spina Bifida Cystica
Cervical Spina Bifida Cystica
Lumbosacral Spina Bifida Cystica
Thoracolumbosacral Spina Bifida Cystica
Total Spina Bifida Cystica
Upper Thoracic Spina Bifida Aperta
Thoracolumbosacral Spina Bifida Aperta
Lumbosacral Spina Bifida Aperta
Cervical Spina Bifida Aperta	Spina Bifida Aperta Of Cervical Spine
Cervicothoracic Spina Bifida Aperta
Total Spina Bifida Aperta
Central Retinal Vein Occlusion	Crvo
Hyperhomocysteinemia
Spina Bifida Occulta
Vitamin B12 Deficiency	Cobalamin Deficiency Hypocobalaminemia Vitamin B 12 Deficiency Cyanocobalamin Deficiency Deficiency Of Vitamin B12
Nonarteritic Anterior Ischemic Optic Neuropathy	Anterior Ischemic Optic Neuropathy Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To NAION Non-Arteritic Anterior Ischemic Optic Neuropathy Ischemic Optic Neuropathy Aion Optic Neuropathy, Ischemic Naion, Susceptibility To Optic Neuropathy, Anterior Ischemic Optic Neuropathy, Anterior Ischemic, Susceptibility To Non-Arteritic Anterior Ischaemic Optic Neuropathy Nonarteritic Anterior Ischaemic Optic Neuropathy Neuropathy, Optic, Ischemic, Nonarteritic Anterior, Susceptibility To Ion - [Ischemic Optic Neuropathy] Neuropathic Ischaemia Of N.Opticus Ischaemic Neuropathy Of Optic Nerve
Anencephaly	Aprosencephaly Anencephalus Congenital Absence Of Brain Absence Of A Large Part Of The Brain And The Skull Anencephalia Anencephalic Monster Brain Absence Brain Agenesis Brain Aplasia Absent Brain Anencephalic Congenital Absence Of Cerebrum Congenital Hemicrania Incomplete Anencephaly
Retinal Artery Occlusion	Retina Artery Narrowing Retinal Artery Spasm Spasm Of Ophthalmic Artery Retinal Spasm Vasospasm Of Retina
Riboflavin Deficiency	Ariboflavinosis Maternal Riboflavin Deficiency RBFVD Vitamin B2 Deficiency Hyporiboflavinosis
Protein S Deficiency	Protein S Deficiency Disease Hereditary Thrombophilia Due To Protein S Deficiency
Placental Abruption	Abruptio Placentae Abruptio Placenta Abortion, Threatened Threatened Miscarriage Haemorrhage Specified As Due To Threatened Abortion Spontaneous Threatened Abortion
Protein C Deficiency	Hereditary Thrombophilia Due To Protein C Deficiency Proc Deficiency Congenital Thrombotic Disease, Due To Protein C Deficiency
Acute Leukemia	Stem Cell Leukaemia Stem Cell Leukemia Acute Leukemias Acute Undifferentiated Leukemia Undifferentiated Leukemia Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission Blast Cell Leukaemia Blast Leukaemia Blastic Leukaemia Undifferentiated Leukaemia
Gastroschisis	Laparoschisis Congenital Fissure Of The Abdominal Cavity Abdominal Wall Defect Abdominal Hernia Hernia, Abdominal Omphalocele Abnormality Of The Abdominal Wall Congenital Omphalocele Coeloschisis Coelioschisis Celoschisis Congenital Para-Umbilical Hernia
Cerebrovascular Disease	Cerebrovascular Disorder Cerebrovascular Accident Cerebrovascular Disorders Cva Stroke
Hemifacial Spasm	Facial Hemispasm Focal Myoclonus Of Face
Thrombophilia	Hypercoagulability State
Placenta Disease	Placenta Diseases Placenta Disorder Pregnancy Complications Placenta Disorders
Nondisjunction	Mosaicism, Chromosomal Mixoploidy, Familial
Thrombophlebitis	Phlebitis And Thrombophlebitis Of Superficial Vessels Of Lower Extremities Superficial Thrombophlebitis Of Leg Thrombophlebitis Of A Superficial Leg Vein Thrombophlebitis Of Superficial Veins Of Lower Extremity
Eclampsia	Eclampsia In Puerperium Postpartum Eclampsia Eclampsia, Postpartum Puerperal Eclampsia
Childhood Acute Lymphocytic Leukemia	Childhood Acute Lymphoblastic Leukemia Childhood All Pediatric Acute Lymphoblastic Leukemia Lymphoblastic Leukemia Acute Childhood
Pulmonary Embolism	Pulmonary Artery Embolism Pulmonary Embolus Pulmonary Emboli
Budd-Chiari Syndrome	Hepatic Vein Thrombosis Chiari Syndrome BDCHS Membranous Obstruction Of The Inferior Vena Cava Budd-Chiari Syndrome, Somatic Movc Budd-Chiari Syndrome, Susceptibility To, Somatic Budd-Chiari Syndrome, Susceptibility To Membranous Obstruction Of Inferior Vena Cava Hepatic Vein Block Obstruction Of Hepatic Veins Hepatic Vein Obstruction Hepatic Venous Block
Antiphospholipid Syndrome	Antiphospholipid Antibody Syndrome Hughes Syndrome Familial Antiphospholipid Syndrome Aps Lupus Anticoagulant, Familial Anti-Phospholipid Syndrome Apls Classic Apls Classic Antiphospholipid Syndrome Acromegaloid Facial Appearance Syndrome Anticardiolipin Syndrome
Antithrombin Iii Deficiency	Hereditary Antithrombin Deficiency Congenital Antithrombin Iii Deficiency Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency AT3D Thrombophilia Due To Antithrombin Iii Deficiency Thph7 Hereditary Thrombophilia Due To Congenital Antithrombin 3 Deficiency Thrombophilia 7 Due To Antithrombin Iii Deficiency At Iii Deficiency Congenital At-Iii Deficiency Inherited Antithrombin Deficiency Antithrombin 3 Deficiency Antithrombin Deficiency Antithrombin-Iii Deficiency At-Iii Deficiency Thrombophilia Due To Antithrombin-Iii Deficiency
Encephalomalacia
Thrombophilia Due To Activated Protein C Resistance	Activated Protein C Resistance Apc Resistance THPH2 Thrombophilia Due To Deficiency Of Activated Protein C Cofactor Proc Cofactor Deficiency Pccf Deficiency Thrombophilia V Thrombophilia, Susceptibility To, Due To Factor V Leiden Thrombophilia Due To Factor V Leiden Thrombophilia 2 Due To Activated Protein C Resistance Thrombophilia, Susceptibility To, Due To Activated Protein C Resistance
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Hellp Syndrome	Hemolysis, Elevated Liver Enzymes, Lowered Platelets Hemolysis, Elevated Liver Enzymes, Low Platelets In Pregnancy Hemolysis-Elevated Liver Enzymes-Low Platelets Syndrome Hellp - [Syndrome Of Haemolysis, Elevated Liver Enzymes And Low Platelet] Haemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome
Portal Vein Thrombosis	Phlebitis Of Portal Vein Deep Vein Thrombosis Of Portal Vein Portal Thrombosis Pvt - [Portal Vein Thrombosis] Portal Venous Thrombosis Portal Venous Embolism Portal Venous Obstruction Portal Venous Block Portal Vein Embolism Portal Vein Block Portal Obstruction Portal Embolism Portal Block Hepatic Portal Vein Obstruction Occlusion Of Hepatic Portal Vein Portal Vein Obstruction
Amaurosis Fugax	Transient Monocular Blindness Momentary Blindness Af - [Amaurosis Fugax] Transient Vision Loss, Spontaneous Amaurosis Fugax, Course Of Resolution Unspecified
Adult Acute Lymphocytic Leukemia	Adult Acute Lymphoid Leukemia Adult All
Migraine Without Aura	Common Migraine Migraine With Or Without Aura, Susceptibility To Migraine Without Aura, Susceptibility To Acute Migraine Without Aura
Glycine N-Methyltransferase Deficiency	GNMT DEFICIENCY Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency Hypermethioninemia Due To Gnmt Deficiency Hypermethioninemia Hepatic Methionine Adenosyltransferase Deficiency
Thrombosis	Thrombosis Of Blood Vessel
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Migraine With Aura	Classic Migraine Migraine With Typical Aura Migraine Accompagnée Complicated Migraine Classical Migraine Acute Migraine With Aura
Pre-Eclampsia	Preeclampsia Gestational Hypertension Hypertension Induced By Pregnancy Pre-Eclamptic Toxaemia Pregnancy Associated Hypertension Proteinuric Hypertension Of Pregnancy Hypertension, Pregnancy-Induced, Susceptibility To Preeclampsia/Eclampsia Pregnancy Toxemia Toxaemia Of Pregnancy Gestational Proteinuric Hypertension Pregnancy-Induced Hypertension Toxemia Of Pregnancy Preeclampsia, Susceptibility To Transient Hypertension Of Pregnancy Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria Gestational Hypertension Nos Mild Proteinuric Hypertension Of Pregnancy Pih - [Pregnancy-Induced Hypertension] Pregnancy-Induced Hypertension Nos Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria Pe - [Pre-Eclampsia] Pre-Eclampsia Nos Pre-Eclamptic Nos Pregnancy Pre-Eclampsia Puerperal Pre-Eclampsia Pre-Eclampsia Toxaemia Toxaemia In Pregnancy Pet - [Pre-Eclamptic Toxaemia] Maternal Toxaemia
Stroke, Ischemic	Cerebral Infarction Stroke Ischemic Stroke Cerebrovascular Accident Cerebral Infarction, Susceptibility To Stroke, Ischemic, Susceptibility To Cerebral Infarct Ischemic Stroke, Susceptibility To Stroke, Susceptibility To Cva - Cerebral Infarction ISCHSTR Ischemic Cerebrovascular Accident
Mucositis	Inflammatory Disease Of Mucous Membrane Gastrointestinal Mucositis
Cervical Intraepithelial Neoplasia	CIN
Vascular Dementia	Dementia, Vascular Multi Infarct Dementia Multifocal Dementia Dementia Vascular Vascular Dementia, Susceptibility To Dementia, Multi-Infarct Multi-Infarct Dementia
Exfoliation Syndrome	Pseudoexfoliation Glaucoma Pseudoexfoliation Syndrome Exfoliation Syndrome, Susceptibility To XFS Exfoliation Glaucoma Xfg Pseudoexfoliation Of The Lens Pexg Pexs Exfoliative Syndrome Glaucoma Capsulare Pex Pseudo-Exfoliation Syndrome
Multiple Chemical Sensitivity	Environmental Illness 20th Century Disease Chemical Aids Idiopathic Environmental Illness Total Allergy Syndrome
Intracranial Thrombosis	Cerebral Thrombosis Thrombosis Of Cerebral Veins Cerebral Arterial Thrombosis
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Carotid Stenosis	Carotid Artery Stenosis Stenosis, Carotid Artery
Venous Insufficiency	Peripheral Venous Insufficiency
Osteonecrosis	Bone Necrosis Avascular Necrosis Of Bone Aseptic Necrosis Necrosis Of Bone Nos Aseptic Osteonecrosis Aseptic Necrosis Of Bone, Site Unspecified Aseptic Or Avascular Bone Necrosis Aseptic Necrosis Of Bone Necrotic Bone Necrotizing Bone Spontaneous Osteonecrosis Osteoradionecrosis
Nutritional Deficiency Disease	Malnutrition Nutritional Disorder Nutritional Deficiency Nutrition Deficiency Diseases Carbamoyl-Phosphate Synthase I Deficiency Disease Nutrition Disorders
Vitamin Metabolic Disorder
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Peripheral Vascular Disease	Peripheral Arterial Disease Arterial Occlusive Disease Arterial Occlusive Diseases Pad Peripheral Vascular Diseases Peripheral Occlusive Disease Peripheral Arterial Diseases Helicobacter Infections
Varicose Veins	Varices Varix Venous Ectasia Venous Varices Varicosity
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Cardiovascular System Disease	Abnormality Of The Cardiovascular System Cardiovascular Disease Disease Of Subdivision Of Hemolymphoid System Disorder Of Cardiovascular System Cardiovascular Diseases
Lateral Sinus Thrombosis	Thrombosis Of Lateral Venous Sinus Thrombosis Transverse Sinus
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Transient Cerebral Ischemia	Transient Ischemic Attack Transient Ischemic Attacks Tia Tia - Transient Ischaemic Attack Transient Cerebral Ischaemia Ischemic Attack, Transient Intermittent Cerebral Ischemia Tia - [Transient Ischaemic Attack] Intermittent Cerebral Ischaemia Transient Cerebral Ischaemic Attack, Unspecified, Course Of Resolution Unspecified
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Nephrosclerosis	Renal Sclerosis
Livedoid Vasculitis	Livedoid Vasculopathy Livedo Reticularis With Summer Ulcerations Livedo Vasculitis Livedo Reticularis With Winter Ulcerations Segmental Hyalinizing Vasculopathy Milian Atrophie Blanche Segmental Hyalinizing Vasculitis Livedo Reticularis With Summer Ulceration
Myelitis	Spinal Cord Inflammation Nos Radiculomyelitis Nos Myeloradiculitis
Smallpox	Variola Ordinary Smallpox Alastrim Amaas
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Schizoaffective Disorder	Schizo-Affective Psychosis Schizo-Affective Type Schizophrenia Schizoaffective Psychosis Schizoaffective Schizophrenia Schizophrenia, Schizo-Affective Type Schizophreniform Psychosis, Affective Type
Branch Retinal Artery Occlusion	Retinal Artery Occlusion Arterial Retinal Branch Occlusion Retinal Arterial Branch Occlusion
Myocardial Infarction	Heart Attack Myocardial Infarction, Susceptibility To Myocardial Infarction 1 Myocardial Infarction, Protection Against Myocardial Infarction, Decreased Susceptibility To Myocardial Infarction, Decreased Myocardial Infarct MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Intracranial Sinus Thrombosis	Sinus Thrombosis, Intracranial
Prothrombin Thrombophilia	Prothrombin G20210a Thrombophilia Hyperprothrombinemia
Turner Syndrome	Monosomy X Gonadal Dysgenesis Turner Type Ullrich-Turner Syndrome Bonnevie-Ullrich Syndrome Karyotype 45, X Genital Dwarfism, Turner Type Gonadal Dysgenesis 45,X Turner'S Syndrome Gonadal Dysgenesis - Turner Monosomy X Syndrome Xo Syndrome Genital Dwarfism 45, X Syndrome Bonnevie-Ulrich Syndrome Chromosome X Monosomy X Schereshevkii Turner Syndrome Turner Varny Syndrome Ts 45,X Syndrome 45,X/46,Xx Syndrome Turners Syndrome Gonadal Dysgenesis, 45,X X0 Syndrome
Retinal Vascular Occlusion	Retinal Vasc. Occlusion Occlusion Of Retinal Vessels Retinal Obstruction
Thrombasthenia
Pregnancy Loss, Recurrent 1	Pregnancy Loss, Recurrent, Susceptibility To, 1 Rpl RPRGL1 Rprgl Recurrent Miscarriage Recurrent Spontaneous Abortion Abortion, Spontaneous, Recurrent Fetal Loss, Recurrent Fetal Loss, Recurrent, Susceptibility To Miscarriage, Recurrent Embryonic Loss, Recurrent Stillbirth, Recurrent Pregnancy Loss, Recurrent, 1 Recurrent Embryonic Loss Recurrent Fetal Loss Recurrent Stillbirth Spontaneous Recurrent Abortion Miscarriage Recurrent Pregnancy Loss, Recurrent, Susceptibility To, Type 1 Abortion, Habitual
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Hyperuricemia	Blood Urate Raized Uricacidemia
Marfan Syndrome	MFS Mfs1 Marfan'S Syndrome Marfan Syndrome Type 1 Marfan Syndrome, Type I Mass Phenotype Contractural Arachnodactyly Mass Syndrome Octd Overlap Connective Tissue Disease Marfanoid Hypermobility Syndrome Marfan Disease
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Central Nervous System Origin Vertigo	Vertigo Of Central Origin Vertigo Central Vestibular Vertigo
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Varicocele	Scrotal Varices Varicoceles Varicocele Of Scrotum Scrotal Varicocele
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Takayasu Arteritis	Aortic Arch Syndrome Pulseless Disease Takayasu'S Arteritis Idiopathic Aortitis Young Female Arteritis Aortic Arch Arteritis Aortic Arches Defect Aortic Arch Defects Takayasu Disease Aortic Arch Syndromes Takayasu'S Disease Ta Obliterative Aortitis Aortic Arch Giant-Cell Arteritis Subclavian-Carotid Obstruction Syndrome Idiopathic Medial Aortopathy And Arteriopathy Takayasu Syndrome Obliterative Brachiocephalic Arteritis Syndrome Raeder-Harbitz Syndrome Chronic Subclavian-Carotid Obstruction Syndrome Giant-Cell Aortitis Takayasu Aortitis Nonspecific Aortoarteritis Sclerosing Aortitis And Arteritis Martorell 2 Syndrome Young Female Aortic Arch Arteritis Syndrome
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Pseudoxanthoma Elasticum	PXE Gronblad-Strandberg Syndrome Pseudoxanthoma Elasticum, Modifier Of Severity Of Gronblad-Strandberg-Touraine Syndrome Gronblad Strandberg Syndrome Groenblad-Strandberg Syndrome Nevus Elasticus Pxe - [Pseudoxanthoma Elasticum]
Sagittal Sinus Thrombosis	Thrombosis Of Superior Longitudinal Sinus Thrombosis Of Superior Sagittal Sinus Thrombosis Superior Sagittal Sinus
Central Retinal Artery Occlusion
Microphthalmia, Isolated 5	Isolated Microphthalmia 5 MCOP5 Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disc Drusen Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome Microphthalmia, Isolated, 5 Microphthalmia Mfrp-Related Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disk Drusen Microphthalmia, Isolated, Type 5
Vein Disease	Disorder Of Vein
Mastoiditis	Mastoiditis Nec
Atherosclerosis Susceptibility	Atherosclerosis Atherosclerosis, Susceptibility To ATHS Atherogenic Lipoprotein Phenotype Alp Arteriosclerosis
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Leukemia, Acute Lymphoblastic	Acute Lymphoblastic Leukemia ALL Acute Lymphocytic Leukemia Leukemia, Acute Lymphocytic, Susceptibility To, 1 Acute Lymphoblastic Leukaemia Precursor Lymphoblastic Lymphoma/Leukemia Precursor Lymphoid Neoplasm Leukemia, Acute Lymphoblastic, Susceptibility To B-Cell Acute Lymphoblastic Leukemia Leukemia, Acute Lymphocytic 1 Acute Lymphocytic Leukaemia Acute Lymphoblastic Leukemia/Lymphoma All1 Childhood Acute Lymphoblastic Leukemia Leukemia Acute Lymphoblastic 1 Leukemia Acute Lymphoblastic B-Hyperdiploid Leukemia Acute Lymphocytic Leukemia Acute Lymphocytic 1 Leukemia B-Cell Acute Lymphoblastic Leukemia T-Cell Acute Lymphoblastic Leukemia, Acute Lymphoblastic, 3 ALL3 Lymphoblastic Leukemia Acute Leukemia, Acute, Lymphoblastic Precursor Cell Lymphoblastic Leukemia Lymphoma Leukemia, Lymphocytic, Acute, L1 Leukemia, Acute Lymphoblastic, Susceptibility To, 3
Blood Protein Disease	Blood Protein Disorders Blood Protein Disorder
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Diabetes Mellitus	Diabetes
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Cardia Cancer	Ca Cardia - Stomach Malignant Neoplasm Of Cardia Of Stomach
Blood Coagulation Disease	Blood Coagulation Disorders Coagulation Protein Disease Inherited Blood Coagulation Disease Postpartum Coagulation Defect Postpartum Coagulation Defect With Delivery Coagulation Protein Disorders Puerperal Coagulopathy
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency
Rheumatoid Arthritis	RA Arthritis, Rheumatoid Rheumatoid Arthritis, Susceptibility To Arthritis Or Polyarthritis, Rheumatic Atrophic Arthritis Rheumatism Arthritis Rheumatoid Polyarthritis
Biotinidase Deficiency	Late-Onset Multiple Carboxylase Deficiency BTD DEFICIENCY Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency, Juvenile-Onset Juvenile-Onset Multiple Carboxylase Deficiency Biotin Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Deficiency Of Biotinidase Biot Carboxylase Deficiency, Multiple, Late-Onset Late-Onset Mcd Mcd Juvenile Form Biotin Deficiency Disease
Meningocele	Isolated Spina Bifida Spina Bifida Cleft Spine Open Spine Rachischisis Spinal Dysraphism Spinal Meningocele Congenital Meningocele
Tobacco Addiction	Nicotine Dependence Tobacco Addiction, Susceptibility To Nicotine Addiction Tobacco Use Disorder Smoking Habit Nicotine Dependence, Protection Against Nicotine Addiction, Protection From Cigarette Habituation Cigarette Habituation, Susceptibility To Smoking Habit, Susceptibility To Nicotine Dependence, Susceptibility To Nicotine Addiction, Susceptibility To Addiction, Tobacco, Susceptibility To Compulsive Tobacco User Syndrome Tobacco Dependence Tobacco Dependence Syndrome Cigarette Addiction Cigarette Dependence Smoking Addiction Smokers Syndrome
Hypermethioninemia	Hepatic Methionine Adenosyltransferase Deficiency Deficiency Of Methionine Adenosyltransferase Glycine N-Methyltransferase Deficiency Met S-Adenosylhomocysteine Hydrolase Deficiency Gnmt Deficiency Mat Deficiency Methionine Adenosyltransferase Deficiency Methioninemia Deficiency Of Acetyl-Coa Acetyltransferase
Choline Deficiency Disease	Choline Deficiency
Physical Disorder	Physical Illness
Intracranial Hypotension
Gastric Cancer	Stomach Cancer Gastric Carcinoma Stomach Carcinoma Gastric Cancer, Somatic Gastric Neoplasm Carcinoma Of Stomach Stomach Neoplasms Malignant Neoplasm Of Stomach Gastric Cancer Risk After H. Pylori Infection Cancer Of The Stomach Adult Stomach Cancer Adult Stomach Carcinoma GASC Gastric Cancer Intestinal Gastric Cancers Gastric Carcinomas Cancer, Gastric Stomach Neoplasm Malignant Neoplasm Of Body Of Stomach Malignant Tumor Of Lesser Curve Of Stomach Gastrocarcinoma Of Unspecified Site Leather Bottle Stomach Carcinoma Of Fundus Of Stomach Cancer Of Fundus Of Stomach Primary Malignant Neoplasm Of Body Of Stomach Cancer Of Body Of Stomach Primary Malignant Neoplasm Of Pyloric Antrum Pyloric Antrum Cancer Malignant Tumour Of Stomach
Cerebral Atherosclerosis	Intracranial Arteriosclerosis
Pulmonary Artery Disease	Abnormality Of The Pulmonary Artery
Methylmalonic Aciduria And Homocystinuria, Cblc Type	MAHCC Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic Methylmalonic Aciduria And Homocystinuria Type Cblc Cobalamin C Disease Methylmalonic Acidemia With Homocystinuria Cblc Methylmalonic Acidemia And Homocystinuria, Cblc Type Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive Cobalamin C Deficiency Methylmalonic Acidemia With Homocystinuria, Type Cblc Cblc Defect Cobalamin C Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc Methylmalonic Aciduria With Homocystinuria, Type Cblc Methylmalonic Acidemia And Homocystinuria Cblc Type Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive Aciduria, Methylmalonic, And Homocystinuria, Cblc Type Methylmalonic Acidemia With Homocystinuria
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Type 1 Diabetes Mellitus	Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus Type 1 IDDM Type 1 Diabetes Insulin-Dependent Diabetes Mellitus T1D Juvenile-Onset Diabetes Jod Diabetes Mellitus, Type 1 Diabetes Mellitus, Insulin-Dependent-1 Type I Diabetes Mellitus Autoimmune Diabetes Juvenile Diabetes Juvenile-Onset Diabetes Mellitus Diabetes, Insulin Dependent Insulin-Dependent Diabetes Mellitus-1 Diabetes Mellitus Insulin-Dependent Diabetes Autoimmune Diabetes Mellitus, Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 1, Susceptibility To Diabetes Type 1 Type I Diabetes Diabetes, Autoimmune T1dm - [Type 1 Diabetes Mellitus] Iddm - [Insulin Dependent Diabetes Mellitus] Type 1 Iddm Juvenile Diabetes Mellitus Without Compications Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications Juvenile-Onset Diabetes Mellitus Without Compications Ketosis-Prone Diabetes Mellitus Without Compications Juvenile-Onset-Type Diabetes Mellitus Without Compications
Vertical Talus, Congenital	Congenital Vertical Talus CVT Congenital Convex Pes Valgus Rocker-Bottom Foot Deformity Vertical Talus Pes Valgus, Congenital Convex Congenital Convex Foot Congenital Rocker-Bottom Foot Rocker Bottom Foot Flatfoot Rocker-Bottom Foot Charcot-Marie-Tooth Disease, Foot Deformity Of
Autoimmune Disease Of Cardiovascular System
Moyamoya Disease 1	Moyamoya Disease Spontaneous Occlusion Of The Circle Of Willis Mymy Progressive Intracranial Arterial Occlusion Moyamoya Syndrome MYMY1 Cerebrovascular Moyamoya Disease Moya-Moya Disease Progressive Intracranial Occlusive Arteropathy Idiopathic Moyamoya Disease
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Methylmalonic Aciduria, Cbla Type	Methylmalonic Acidemia Cbla Type Methylmalonic Aciduria Cbla Type Methylmalonic Acidemia, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla Methylmalonic Aciduria Type Cbla MMAA Methylmalonic Aciduria Type A Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A Aciduria, Methylmalonic, Cbla Type Methylmalonic Aciduria Cbla Type
Argininemia	Hyperargininemia Arginase Deficiency Arg1 Deficiency Arginase-1 Deficiency Deficiency Of Canavanase Arginase Deficiency Disease ARGIN
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Colorectal Cancer, Hereditary Nonpolyposis, Type 5	HNPCC5 Hereditary Nonpolyposis Colorectal Cancer Type 5 Hereditary Non-Polyposis Colorectal Cancer 5 Cancer, Colorectal, Nonpolyposis, Hereditary, Type 5
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Orofacial Cleft	Cleft, Orofacial
Chromosomal Duplication Syndrome
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Colorectal Adenoma	Colorectal Adenomas Adenoma Of Large Intestine
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Mental Retardation, X-Linked 3 Methylmalonic Acidemia With Homocystinuria, Type Cblx MAHCX Intellectual Developmental Disorder, X-Linked 3 Xlid3 Mrx3 Methylmalonic Acidemia And Homocysteinemia Cblx Type Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx Methylmalonic Aciduria With Homocystinuria, Type Cblx Methylmalonic Acidemia And Homocysteinemia, Cblx Type Methylmalonic Aciduria And Homocysteinemia, Cblx Type Methylmalonic Aciduria And Homocysteinemia , Cblx Type Mental Retardation, X-Linked, Type 3
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Behcet Syndrome	Behcet Disease Behcet'S Syndrome Behcet'S Disease Behçet Disease Bd Adamantiades-Behcet Disease Triple Symptom Complex Behçet'S Disease Behet'S Syndrome Bd Syndrome Behçet Syndrome Behçet'S Syndrome Behcet Triple Symptom Complex Malignant Aphthosis Old Silk Route Disease Adamantiades-Behçet Disease
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS08778	MTHFR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20057	Mthfr Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26561	Mthfr Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MTHFR	VGNC	VGNC:43473
Felis catus	MTHFR	VGNC	VGNC:68339
Bos taurus	MTHFR	VGNC	VGNC:31731
Macaca mulatta	MTHFR	VGNC	VGNC:75069
Mus musculus	MTHFR	MGD	MGI:106639
Rattus norvegicus	MTHFR	RGD	RGD:1309952
Others	MTHFR	NCBI