Details of Disease

General Information of Disease (ID: DISM732R)

Disease Name Dystonia 37, early-onset, with striatal lesions
Disease Hierarchy
DISEIJV9: Inherited dystonia
DISM732R: Dystonia 37, early-onset, with striatal lesions
Disease Identifiers
MONDO ID
MONDO_0957385
UMLS CUI
C5830592
OMIM ID
620427
MedGen ID
1841228

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
NUP54 OTHOIRMG Limited Autosomal recessive [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.