# tubular aggregate myopathy

> Human disease

**Wikidata**: [Q21505517](https://www.wikidata.org/wiki/Q21505517)  
**Source**: https://4ort.xyz/entity/tubular-aggregate-myopathy


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/bb8d614e-e8ff-4f16-bba3-6fc35ea56e8a--2020-07-13T16:49:19)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb8d614e-e8ff-4f16-bba3-6fc35ea56e8a-2020-07-13T164919.164Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000276045/MONDO_0008051)
7. Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9419adda-b3fb-4c2d-8562-6a0318260bbd-2021-04-01T173717.906Z)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9419adda-b3fb-4c2d-8562-6a0318260bbd-2021-04-01T160000.000Z)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000167323/MONDO_0008051)
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)