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GENE - TERM ANNOTATION REPORT

RGD ID: 18729427
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: SPTBN2
Name: spectrin beta, non-erythrocytic 2
Acc ID: DOID:0050882
Term: spinocerebellar ataxia type 5
Definition: 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. (DO)
Definition Source(s): ORDO:98766 "DO" "DO", PMID:20368622 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
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