Details of Disease

General Information of Disease (ID: DISIIN6B)

Disease Name Spinocerebellar ataxia 49
Synonyms spinocerebellar ataxia 49; SCA49
Disease Hierarchy
DISYMHUK: Spinocerebellar ataxia
DISIIN6B: Spinocerebellar ataxia 49
Disease Identifiers
MONDO ID
MONDO_0030805
UMLS CUI
C5676950
OMIM ID
619806
MedGen ID
1805601

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
SAMD9L OTKEJUCI 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.