FOLR1 and Neurodegenerative Syndrome Due To Cerebral Folate Transport Deficiency: Association Evidence

In brief

The association between FOLR1 (Folate Receptor Alpha) and Neurodegenerative Syndrome Due To Cerebral Folate Transport Deficiency is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

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

2 sources

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

Request access

FOLR1

The gene

1 source summary

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

Request access

Neurodegenerative Syndrome Due To Cerebral Folate Transport Deficiency

The disorder

6 database identifiers

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

Request access

ClinVar and variant evidence

Genetic basis

221 clinical variants

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

Request access

Literature

Reading

10 publications

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

Request access

Provenance

References & sources

13 references

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

Request access