Details of Disease

General Information of Disease (ID: DIS04NMC)

Disease Name Myoclonus, familial, 1
Synonyms myoclonus, familial cortical; MYOCL1; FCM
Definition Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.
Disease Hierarchy
DISAQA19: Myoclonus, familial
DIS04NMC: Myoclonus, familial, 1
Disease Identifiers
MONDO ID
MONDO_0100093
UMLS CUI
C3539916
OMIM ID
614937
MedGen ID
761667
SNOMED CT ID
763770005

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
NOL3 OT1K0L0D 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.