# spinocerebellar ataxia type 29

> Human disease

**Wikidata**: [Q21097773](https://www.wikidata.org/wiki/Q21097773)  
**Source**: https://4ort.xyz/entity/spinocerebellar-ataxia-type-29


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b938bea-6fcb-46e1-9435-99303d59740e-2022-01-03T094328.527Z)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b938bea-6fcb-46e1-9435-99303d59740e-2021-11-03T160000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000150995/MONDO_0007298)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)