Gene Expression: MTHFR

Gene Data

  • Gene Symbol: MTHFR
  • Gene ID: 4524
  • Synonyms: -
  • Description: methylenetetrahydrofolate reductase (NAD(P)H)
  • Database Refs: HGNC:7436, MIM:607093, Ensembl:ENSG00000177000, HPRD:06158, Vega:OTTHUMG00000002277
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 0 out of 16 exons in this gene. (More about DEXSeq here)

Cluster Associations

This gene is associated with the following clusters:

Disease Associations

This gene is associated with the following diseases. Clicking on the disease will take you to the disease association entry for that disease.

This gene is associated with 161 diseases, scroll to view all:
  1. Adenoma
  2. Alzheimer's disease
  3. Antiphospholipid syndrome
  4. Antithrombin III deficiency
  5. Arterial occlusive disease
  6. Arteriopathy
  7. Arteriosclerosis
  8. Arteriosclerotic cardiovascular disease
  9. Arthritis
  10. Atherosclerosis
  11. Atrial heart septal defect
  12. Benign neoplasm
  13. Blood coagulation disease
  14. Blood platelet disease
  15. Blood protein disease
  16. Bone disease
  17. Bone inflammation disease
  18. Brain disease
  19. Brain infarction
  20. Breast cancer
  21. Cancer
  22. Carbohydrate metabolism disease
  23. Carcinoma
  24. Cardiovascular system disease
  25. Carotid artery disease
  26. Carotid stenosis
  27. Cell type cancer
  28. Central nervous system disease
  29. Central retinal vein occlusion
  30. Cerebral arterial disease
  31. Cerebral infarction
  32. Cerebral palsy
  33. Cerebrovascular accident
  34. Cerebrovascular disease
  35. Childhood leukemia
  36. Chromosomal disease
  37. Chronic kidney failure
  38. Cleft lip
  39. Cleft palate
  40. Cognitive disease
  41. Colon cancer
  42. Colorectal cancer
  43. Congenital heart defect
  44. Coronary heart disease
  45. Dementia
  46. Developmental disease of mental health
  47. Diabetes mellitus
  48. Disease
  49. Disease of anatomical entity
  50. Disease of cellular proliferation
  51. Disease of mental health
  52. Disease of metabolism
  53. Down syndrome
  54. Eclampsia
  55. End stage renal failure
  56. Endocrine pancreas disease
  57. Endocrine system disease
  58. Esophageal cancer
  59. Exfoliation syndrome
  60. Extrinsic cardiomyopathy
  61. Eye and adnexa disease
  62. Eye disease
  63. Female reproductive system disease
  64. Gastric cardia adenocarcinoma
  65. Gastric cardia carcinoma
  66. Gastrointestinal system cancer
  67. Gastrointestinal system disease
  68. Genetic disease
  69. Globe disease
  70. Glucose metabolism disease
  71. Habitual abortion
  72. Heart disease
  73. Heart septal defect
  74. HELLP syndrome
  75. Hematologic cancer
  76. Hematopoietic system disease
  77. Hemorrhagic disease
  78. Hepatic vascular disease
  79. Hepatic vein thrombosis
  80. Homocystinuria
  81. Hyperhomocysteinemia
  82. Hypersensitivity reaction disease
  83. Hypersensitivity reaction type II diseas
  84. Hypertension
  85. Immune system disease
  86. Inborn errors of amino acid metabolism
  87. Inborn errors of metabolism
  88. Inborn metabolic brain disease
  89. Infertility
  90. Inflammatory bowel disease
  91. Inherited blood coagulation disease
  92. Intestinal cancer
  93. Intestinal disease
  94. Intracranial arterial disease
  95. Intracranial arteriosclerosis
  96. Ischemia
  97. Ischemic bone disease
  98. Ischemic optic neuropathy
  99. Kidney disease
  100. Kidney failure
  101. Large intestine cancer
  102. Leukemia
  103. Lung cancer
  104. Lymphoblastic leukemia
  105. Macrocytic anemia
  106. Male infertility
  107. Male reproductive system disease
  108. Medical disorder
  109. Megaloblastic anemia
  110. Metabolic brain disease
  111. Methylmalonic aciduria
  112. Migraine
  113. Monogenic disease
  114. Musculoskeletal system disease
  115. Myocardial infarction
  116. Myocardial ischemia
  117. Nervous system disease
  118. Neurodegenerative disease
  119. Organ system cancer
  120. Orofacial cleft
  121. Osteonecrosis
  122. Pancreas disease
  123. Patent foramen ovale
  124. Phacogenic glaucoma
  125. Phlebitis
  126. Physical disorder
  127. Placental abruption
  128. Portal vein thrombosis
  129. pre-eclampsia
  130. Pregnancy complication
  131. Pregnancy disease
  132. Protein C deficiency
  133. Protein S deficiency
  134. Pseudotumor cerebri
  135. Psychotic disease
  136. Pulmonary embolism
  137. Reproductive system disease
  138. Respiratory system cancer
  139. Retinal artery occlusion
  140. Retinal disease
  141. Retinal vascular disease
  142. Retinal vascular occlusion
  143. Retinal vein occlusion
  144. Rheumatoid arthritis
  145. Schizophrenia
  146. Sensory system disease
  147. Severe pre-eclampsia
  148. Spina bifida
  149. Spontaneous abortion
  150. Squamous cell carcinoma
  151. Stomach cancer
  152. Sulfuraminoacidemia
  153. Tauopathy
  154. Thoracic cancer
  155. Thrombophilia
  156. Thrombophlebitis
  157. Transient cerebral ischemia
  158. Urinary system disease
  159. Vascular dementia
  160. Vascular disease
  161. Vein disease

Stage Associations

This gene is associated with the following stages: