Details of Disease | DrugMAP

General Information of Disease (ID: DISKFX4X)

Disease Name	Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Synonyms	EMERY-Dreifuss muscular dystrophy 5, autosomal dominant; EDMD5; Emery-Dreifuss muscular dystrophy 5, autosomal dominant; autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2; SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy
Definition	Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.
Disease Hierarchy	DISL8GMY: Autosomal dominant Emery-Dreifuss muscular dystrophy DISKFX4X: Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0013072 UMLS CUI C2751805 OMIM ID 612999 MedGen ID 414111

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
SYNE2	OTBUXGQ0	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.