# Charcot-Marie-Tooth disease type 4B2

> Charcot-Marie-Tooth disease type 4 that has material basis in mutation in the SBF2 gene

**Wikidata**: [Q27677652](https://www.wikidata.org/wiki/Q27677652)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-type-4b2


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01893bf4-e95d-4206-9d2e-e3822f778b7a-2021-03-22T201309.257Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000133812/MONDO_0011475)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)