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GENE - TERM ANNOTATION REPORT

RGD ID: 619801
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc36a1
Name: solute carrier family 36 member 1
Acc ID: DOID:0080287
Term: spinocerebellar ataxia 45
Definition: An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/29053796/ "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)
Slc36a1 ISOSLC36A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346
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