# Charcot-Marie-Tooth disease dominant intermediate E

> Charcot-Marie-Tooth disease intermediate type that has material basis in heterozygous mutation in the INF2 gene on chromosome 14q32

**Wikidata**: [Q27677669](https://www.wikidata.org/wiki/Q27677669)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-dominant-intermediate-e


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5215f2cf-99c9-405a-b221-18f412abd1f0-2021-03-22T202012.410Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000203485/MONDO_0013758)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000203485/Orphanet_93114)
8. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
9. UMLS 2023