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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking RPGR and cone dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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:8561240 (Homo sapiens)
  • 39 RGD objects have been annotated to cone dystrophy  (DOID:0050795)
  • 26 papers in RGD have been used to annotate RPGR
  • Curation Notes: ClinVar Annotator: match by term: Cone dystrophy
  • Original References(s): PMID:11857109 PMID:11875055 PMID:22264887 PMID:25741868 PMID:28492532 PMID:29785639


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