DHFR across dismech

DHFR (dihydrofolate reductase) is named by 2 disorder entries: Constitutional Megaloblastic Anemia With Severe Neurologic Disease; and Methotrexate Toxicity.

Causative record

Only Constitutional Megaloblastic Anemia With Severe Neurologic Disease types DHFR as causative, with a germline variant origin. The gene sits on the node DHFR Enzyme Destabilization, where destabilizing missense variants lower the amount and activity of the enzyme. ClinGen has classified DHFR for 0 diseases.

Drug target

Methotrexate Toxicity names DHFR as the drug's target rather than as a disease gene; its genetic record is no genetic record, and the gene sits on the node Dihydrofolate Reductase Inhibition.

Normal function

The pinned ai-gene-review snapshot has no core functions for DHFR (0 terms). A gene review has now been written upstream giving dihydrofolate reductase activity in tetrahydrofolate biosynthesis (cytosol) and in nuclear dTMP synthesis as the core functions, which matches the activity and process the causative entry marks as decreased; it will appear here when the ingest layer is refreshed.