MTHFD1 and Disease Of Metabolism: Association Evidence

Gene-Disorder Association · Article

Gene

MTHFD1

Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1

Disorder

First reported 1950

Key publication · disorder A system of physiodynamics and its application to the neuroendocrinology of psychiatry; part II of physiodynamics and some major metabolic disorders.Journal of clinical and experimental psychopathology · 1950

Manually curated

Association Review

In brief

The association between MTHFD1 (Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1) and Disease Of Metabolism is reported, with clinical genetic testing available.

Sources 1

Clinical variants 0

Symptoms 1

Compounds 0

Trials 0

Publications 0

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access

Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access

MTHFD1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access

Disease Of Metabolism

The disorder

9 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access

Provenance

References & sources

3 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access