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GENE - TERM ANNOTATION REPORT

RGD ID: 732969
Species: Mus musculus
RGD Object: Gene
Symbol: Xrcc1
Name: X-ray repair complementing defective repair in Chinese hamster cells 1
Acc ID: DOID:0080260
Term: autosomal recessive spinocerebellar ataxia 26
Definition: An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/28002403 "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)
Xrcc1 ISOXRCC1 (Homo sapiens)7240710OMIM  
Xrcc1 ISOXRCC1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26PMID:16875718 PMID:19362955 PMID:20530282 PMID:21057378 PMID:22026922 PMID:22188361 PMID:22761669 PMID:22992668 PMID:24224851 PMID:24446315 PMID:25025378 PMID:25232828 PMID:25741868 PMID:27248474 PMID:27636246 PMID:28002403 PMID:28422153 PMID:28743242 PMID:29662106
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