# nemaline myopathy 5

> nemaline myopathy that has material basis in homozygous mutation in the TNNT1 gene on chromosome 19q13

**Wikidata**: [Q32144946](https://www.wikidata.org/wiki/Q32144946)  
**Source**: https://4ort.xyz/entity/nemaline-myopathy-5


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/8f993d88-c2f6-42c8-8c2e-c1bb63e1416a--2020-05-07T16:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f993d88-c2f6-42c8-8c2e-c1bb63e1416a-2020-05-07T160000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000105048/MONDO_0011539)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)