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GENE - TERM ANNOTATION REPORT

RGD ID: 628740
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Aptx
Name: aprataxin
Acc ID: DOID:0050755
Term: spinocerebellar ataxia with axonal neuropathy 2
Definition: An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/19696032/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/23786967/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1154/ "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)
Aptx ISOAPTX (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532
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