# hereditary spastic paraplegia 30

> hereditary spastic paraplegia that has material basis in mutation in the KIF1A gene on chromosome 2q37

**Wikidata**: [Q32142828](https://www.wikidata.org/wiki/Q32142828)  
**Source**: https://4ort.xyz/entity/hereditary-spastic-paraplegia-30


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000130294/MONDO_0012476)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000130294/Orphanet_101010)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)