# Fanconi anemia complementation group J

> Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22

**Wikidata**: [Q32147098](https://www.wikidata.org/wiki/Q32147098)  
**Source**: https://4ort.xyz/entity/fanconi-anemia-complementation-group-j


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/40aae4ea-8c9b-42a7-9d02-0f52a184712f--2019-08-18T16:04:42)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40aae4ea-8c9b-42a7-9d02-0f52a184712f-2019-08-18T160442.255Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000136492/MONDO_0012187)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)