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GENE - TERM ANNOTATION REPORT

RGD ID: 1560342
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tdp2
Name: tyrosyl-DNA phosphodiesterase 2
Acc ID: DOID:0111613
Term: autosomal recessive spinocerebellar ataxia 23
Definition: An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24658003 "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)
Tdp2 ISOTDP2 (Homo sapiens)7240710OMIM  
Tdp2 ISOTDP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 23PMID:24658003 PMID:25741868 PMID:30109272
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