Details of Disease

General Information of Disease (ID: DISEXLU4)

Disease Name Spinocerebellar ataxia 48
Synonyms SPINOCEREBELLAR ATAXIA 48; SCA48
Disease Hierarchy
DISYMHUK: Spinocerebellar ataxia
DISEXLU4: Spinocerebellar ataxia 48
Disease Identifiers
MONDO ID
MONDO_0032526
UMLS CUI
C4748158
OMIM ID
618093
MedGen ID
1648409

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
STUB1 OTSUYI9A Strong 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.