Disease-gene associations mined from literature

Human genes for spinocerebellar ataxia type 5

Spinocerebellar ataxia type 5 [DOID:0050882]

An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has material basis in mutation in the SPTBN2 gene.

Synonyms:  spinocerebellar ataxia type 5,  DOID:0050882