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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking RHO and Peripheral visual field loss in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Azam M, etal., Mol Vis. 2009 Dec 3;15:2526-34.
  • 8 additional annotations were made from Azam M, etal., Mol Vis. 2009 Dec 3;15:2526-34.
  • 104 RGD objects have been annotated to Peripheral visual field loss  (HP:0007994)
  • 26 papers in RGD have been used to annotate RHO
  • Curation Notes: DNA:missense mutation:cds:c.448G>A (p.E150K)


    • An association has been curated linking RHO and Peripheral visual field loss in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 104 RGD objects have been annotated to Peripheral visual field loss  (HP:0007994)
  • 26 papers in RGD have been used to annotate RHO
  • Original References(s): ORPHA:52427


    • An association has been curated linking RHO and Peripheral visual field loss in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 104 RGD objects have been annotated to Peripheral visual field loss  (HP:0007994)
  • 26 papers in RGD have been used to annotate RHO
  • Original References(s): ORPHA:791


    • An association has been curated linking RHO and Peripheral visual field loss 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:8599245 (Homo sapiens)
  • 104 RGD objects have been annotated to Peripheral visual field loss  (HP:0007994)
  • 26 papers in RGD have been used to annotate RHO
  • Curation Notes: ClinVar Annotator: match by term: Peripheral visual field loss
  • Original References(s): PMID:11139241 PMID:18175313 PMID:18385078 PMID:2021172 PMID:20555336 PMID:21094163 PMID:2215617 PMID:22217031 PMID:25221422 PMID:25741868 PMID:26202387 PMID:26667666 PMID:28041643 PMID:28492532 PMID:28559085 PMID:30972525 PMID:30977563 PMID:31054281 PMID:31213501 PMID:31630094 PMID:31960602 PMID:31964843 PMID:32531858 PMID:32581362 PMID:33090715 PMID:33576794 PMID:33629268 PMID:33749171 PMID:33851411 PMID:33946315 PMID:34758253 PMID:35656873 PMID:36284460 PMID:36460718 PMID:36819107 PMID:36909829


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