# RYR1

> protein-coding gene in the species Homo sapiens

**Wikidata**: [Q18031340](https://www.wikidata.org/wiki/Q18031340)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Ryanodine_receptor_1)  
**Source**: https://4ort.xyz/entity/ryr1


## References

1. ensembl Release 106
2. Ensembl Release 87
3. Q20641742
4. Online Mendelian Inheritance in Man
5. HomoloGene build68
6. [Orthologous MAtrix](https://omabrowser.org/oma/vps/P21817/)
7. UniProt
8. Klinická neurologie část speciální
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196218/Orphanet_423)
10. Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation
11. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bcd5e6ba-ef77-434c-9ec6-47f72f597bfe-2020-11-25T170000.000Z)
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196218/EFO_0009071)
13. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196218/EFO_1000855)
14. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196218/Orphanet_597)
15. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196218/MONDO_0009712)
16. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196218/MONDO_0015793)
17. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196218/MONDO_0018948)
18. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196218/MONDO_0020485)
19. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069)
20. UMLS 2023
21. [Bgee](https://www.bgee.org/gene/ENSG00000196218)
22. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)