# Fanconi anemia complementation group N

> Fanconi anemia that has material basis in compound heterozygous mutation in the PALB2 gene on chromosome 16p12

**Wikidata**: [Q32147054](https://www.wikidata.org/wiki/Q32147054)  
**Source**: https://4ort.xyz/entity/fanconi-anemia-complementation-group-n


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
5. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/3ebabbf1-1a43-4a57-b0b8-2b29bb57ade1--2019-08-18T16:03:12)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ebabbf1-1a43-4a57-b0b8-2b29bb57ade1-2019-08-18T160312.829Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000083093/MONDO_0012565)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)