# Fanconi anemia complementation group E

> Fanconi anemia that has material basis in homozygous mutation in the FANCE gene on chromosome 6p22-p21

**Wikidata**: [Q32146907](https://www.wikidata.org/wiki/Q32146907)  
**Source**: https://4ort.xyz/entity/fanconi-anemia-complementation-group-e


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Isolation of a cDNA representing the Fanconi anemia complementation group E gene
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/6da55a6e-2cf8-499c-b842-b5a435dbff3f--2020-05-14T00:17:45)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6da55a6e-2cf8-499c-b842-b5a435dbff3f-2020-05-14T001745.604Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000112039/MONDO_0010953)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)