Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:0080060
Term: autosomal recessive spinocerebellar ataxia 12
Definition: An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24369382 "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)
Go Back to source page   Continue to Ontology report