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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:0080042
Term: autosomal recessive spinocerebellar ataxia 18
Definition: An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24078737 "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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