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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Atp2b3 and X-linked spinocerebellar ataxia 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ATP2B3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to X-linked spinocerebellar ataxia 1  (DOID:0111829)
  • 18 papers in RGD have been used to annotate Atp2b3


  • An association has been curated linking Atp2b3 and X-linked spinocerebellar ataxia 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ATP2B3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to X-linked spinocerebellar ataxia 1  (DOID:0111829)
  • 18 papers in RGD have been used to annotate Atp2b3
  • Curation Notes: ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia
  • Original References(s): PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:26633542 PMID:27435318 PMID:28492532


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