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GENE - TERM ANNOTATION REPORT

RGD ID: 2244
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cacna1a
Name: calcium voltage-gated channel subunit alpha1 A
Acc ID: DOID:0080029
Term: autosomal recessive spinocerebellar ataxia 16
Definition: An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24113144 "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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
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