Details of Disease | DrugMAP

General Information of Disease (ID: DISWUKG9)

Disease Name	Epilepsy, familial adult myoclonic, 7
Synonyms	benign Adult Familial myoclonic epilepsy 7; epilepsy, FAMILIAL ADULT myoclonic, 7; FAME7; cortical myoclonic tremor with epilepsy, Familial, 7
Disease Hierarchy	DIS900JN: Epilepsy, familial adult myoclonic DISWUKG9: Epilepsy, familial adult myoclonic, 7
Disease Identifiers	MONDO ID MONDO_0054847 UMLS CUI C4748080 OMIM ID 618075 MedGen ID 1648435

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
RAPGEF2	OTZWX2AA	Limited	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Expansions?of?intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5.