# nephronophthisis 16

> nephronophthisis that has material basis in homozygous mutation in the ANKS6 gene on chromosome 9q22

**Wikidata**: [Q32147509](https://www.wikidata.org/wiki/Q32147509)  
**Source**: https://4ort.xyz/entity/nephronophthisis-16


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62df8a40-0b65-46a4-89c8-51f26424c523-2021-08-25T160000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000165138/MONDO_0014158)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)