Details of Disease

General Information of Disease (ID: DISDSXC3)

Disease Name Dystonia, early-onset, and/or spastic paraplegia
Disease Hierarchy
DISYKSRF: Genetic disease
DISDSXC3: Dystonia, early-onset, and/or spastic paraplegia
Disease Identifiers
MONDO ID
MONDO_0859215
UMLS CUI
C5562051
OMIM ID
619681
MedGen ID
1794261

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
ATP5MC3 OTX674BU Moderate Autosomal dominant [1]
------------------------------------------------------------------------------------

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.