# methylcobalamin deficiency type cblE

> human disease

**Wikidata**: [Q55781940](https://www.wikidata.org/wiki/Q55781940)  
**Source**: https://4ort.xyz/entity/methylcobalamin-deficiency-type-cble


## References

1. Monarch Disease Ontology release 2018-06-29
2. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria
3. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_905575cf-cb80-4038-b82b-1de3ae1c469d-2021-07-02T160000.000Z)
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000124275/MONDO_0009354)