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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking RPGR and Congenital stationary night blindness 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:13435033 (Homo sapiens)
  • 27 RGD objects have been annotated to Congenital stationary night blindness  (HP:0007642)
  • 26 papers in RGD have been used to annotate RPGR
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:28041643


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