Details of Disease | DrugMAP

General Information of Disease (ID: DISFMIP7)

Disease Name	Myasthenic syndrome, congenital, 24, presynaptic
Synonyms	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC; CMS24
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISJLG2T: Congenital myasthenic syndrome DISFMIP7: Myasthenic syndrome, congenital, 24, presynaptic
Disease Identifiers	MONDO ID MONDO_0032597 UMLS CUI C4748684 OMIM ID 618198 MedGen ID 1648337

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYO9A	OTE3XHKY	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.