Details of Disease

General Information of Disease (ID: DISM3CDB)

Disease Name Epilepsy, progressive myoclonic, 11
Synonyms EPM11; EPILEPSY, PROGRESSIVE MYOCLONIC, 11; epilepsy, progressive myoclonic, 11
Disease Hierarchy
DISAMCNS: Progressive myoclonus epilepsy
DISM3CDB: Epilepsy, progressive myoclonic, 11
Disease Identifiers
MONDO ID
MONDO_0030034
UMLS CUI
C5394362
OMIM ID
618876
MedGen ID
1716712

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
SEMA6B OT3VVVUO Strong Autosomal dominant [1]
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References

1 De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. Am J Hum Genet. 2020 Apr 2;106(4):549-558. doi: 10.1016/j.ajhg.2020.02.011. Epub 2020 Mar 12.