# congenital myasthenic syndrome

> Human disease

**Wikidata**: [Q3508800](https://www.wikidata.org/wiki/Q3508800)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome)  
**Source**: https://4ort.xyz/entity/congenital-myasthenic-syndrome


## References

1. [Source](http://www.mhlw.go.jp/english/wp/wp-hw10/dl/02e.pdf)
2. [Source](http://www.nanbyou.or.jp/entry/3963)
3. [Source](https://ddrare.nibiohn.go.jp/)
4. Disease Ontology
5. Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000138435/Orphanet_590)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000007314/Orphanet_590)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000030304/Orphanet_590)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000070748/Orphanet_590)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000108556/Orphanet_590)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000135902/Orphanet_590)
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000165917/Orphanet_590)
13. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000170175/Orphanet_590)
14. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000172269/Orphanet_590)
15. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000175920/Orphanet_590)
16. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000197467/Orphanet_590)
17. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000198380/Orphanet_590)
18. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000206561/Orphanet_590)
19. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
20. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)