General Information of Disease (ID: DISGNIL2)

Disease Name Spinocerebellar ataxia 45
Synonyms SCA45; spinocerebellar ataxia 45
Disease Hierarchy
DISQBYEM: Autosomal dominant cerebellar ataxia type III
DISGNIL2: Spinocerebellar ataxia 45
Disease Identifiers
MONDO ID
MONDO_0033480
UMLS CUI
C4540400
OMIM ID
617769
MedGen ID
1622156
Orphanet ID
589527
SNOMED CT ID
1279840000

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
FAT2 OTRGT3E8 Supportive Autosomal dominant [1]
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References

1 Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain. 2017 Nov 1;140(11):2860-2878. doi: 10.1093/brain/awx251.