Details of Disease | DrugMAP

General Information of Disease (ID: DISEH4ER)

Disease Name	Neuronopathy, distal hereditary motor, autosomal dominant 10
Synonyms	neuronopathy, distal hereditary motor, type X
Disease Hierarchy	DIS4M3WN: Neuronopathy, distal hereditary motor, autosomal dominant DISEH4ER: Neuronopathy, distal hereditary motor, autosomal dominant 10
Disease Identifiers	MONDO ID MONDO_0859300 UMLS CUI C5774234 OMIM ID 620080 MedGen ID 1824007

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
EMILIN1	OT94R6M1	Strong	Autosomal dominant	[1]
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References

1	Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease. Hum Mutat. 2016 Jan;37(1):84-97. doi: 10.1002/humu.22920. Epub 2015 Nov 4.