ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Anencephaly | susceptibility |
mechanism: Disrupted Folate One-Carbon Metabolism
|
| Fetal Valproate Syndrome | susceptibility |
mechanism: Disrupted Embryonic One-Carbon Metabolism
animal model: Mthfr 677C>T knock-in mouse with valproate exposure
|
| Methotrexate Toxicity | susceptibility |
mechanism: Tetrahydrofolate Depletion
|
| Migraine with aura | susceptibility | |
| Spina Bifida Cystica | susceptibility | |
| Homocystinuria | untyped |
mechanism: MTHFR remethylation pathway deficiency
|
| Inborn Disorder of Methionine Cycle and Sulfur Amino Acid Metabolism | untyped |
mechanism: MTHFR Remethylation Deficiency
subtype: MTHFR deficiency
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353 | AR | Definitive 2019-06-18 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.