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spinocerebellar ataxia type 42
Disease Summary
Associated Targets (1)
Tclin
1
Uniprot Description A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA42 is a slowly progressive, autosomal dominant form with variable severity.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111742
EFO:0009059
NCIT:C171269
OMIM:616795
Orphanet:458803
UMLS:C4225205
MONDO:0014776
High level summary of knowledge for a disease, including descriptions and datasource references.