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GENE - TERM ANNOTATION REPORT

RGD ID: 708476
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc25a11
Name: solute carrier family 25 member 11
Acc ID: DOID:0050941
Term: spastic ataxia 2
Definition: A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17273843 "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)
Slc25a11 ISOSLC25A11 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spastic ataxia 2PMID:28492532
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