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GENE - TERM ANNOTATION REPORT

RGD ID: 2933
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Itpr1
Name: inositol 1,4,5-trisphosphate receptor, type 1
Acc ID: DOID:0050954
Term: spinocerebellar ataxia type 1
Definition: An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1 "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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