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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking HARS1 and retinitis pigmentosa-deafness syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • 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 by association of genotype and phenotype with RGD:11663593 (Homo sapiens)
  • 15 RGD objects have been annotated to retinitis pigmentosa-deafness syndrome  (DOID:0110829)
  • 6 papers in RGD have been used to annotate HARS1
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome


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