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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Abca2 and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis in Mus musculus.        

  • 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 ABCA2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  (DOID:0111276)
  • 6 papers in RGD have been used to annotate Abca2
  • Curation Notes: ClinVar Annotator: match by term: Ataxia with Dysarthria
  • Original References(s): PMID:31047799


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