Details of Disease | DrugMAP

General Information of Disease (ID: DIS6EXL2)

Disease Name	Myoclonus, familial, 2
Synonyms	MYOCL2
Definition	Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.
Disease Hierarchy	DISAQA19: Myoclonus, familial DIS6EXL2: Myoclonus, familial, 2
Disease Identifiers	MONDO ID MONDO_0100092 UMLS CUI C5193056 OMIM ID 618364 MedGen ID 1683864

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN8A	DTIMSBJ	Limited	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCN8A	OT0JGIZN	Limited	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.