Genopathy
Gene-Disorder Association · Article
Gene
MTHFD1
Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1
Disorder
Neural Tube Defects, Folate-Sensitive
First reported 2006
Supporting publications 5
Key publication · gene–disorder Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.Journal of human genetics · 2006
Key publication · disorder Spina bifida and anencephaly. Geographic correlation with the HLA system.Tissue antigens · 1980
Manually curated
Association Review

In brief

The association between MTHFD1 (Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1) and Neural Tube Defects, Folate-Sensitive is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a susceptibility locus.

Sources 3
Clinical variants 15
Symptoms 6
Compounds 0
Trials 0
Publications 5
01
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
02
Provenance

Evidence and sources

3 sources

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

Request access
03
MTHFD1

The gene

1 source summary

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

Request access
04
Neural Tube Defects, Folate-Sensitive

The disorder

5 database identifiers

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

Request access
05
Phenotype

Clinical features

2 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

15 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

5 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

10 references

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

Request access