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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking OPN1MW and blue cone monochromacy 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:13612902 (Homo sapiens)
  • 4 RGD objects have been annotated to blue cone monochromacy  (DOID:0050679)
  • 6 papers in RGD have been used to annotate OPN1MW
  • Curation Notes: ClinVar Annotator: match by term: Blue cone monochromacy


  • An association has been curated linking OPN1MW and blue cone monochromacy 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:8561743 (Homo sapiens)
  • 4 RGD objects have been annotated to blue cone monochromacy  (DOID:0050679)
  • 6 papers in RGD have been used to annotate OPN1MW
  • Curation Notes: ClinVar Annotator: match by term: Cone dystrophy 5, X-linked
  • Original References(s): PMID:20579627


  • An association has been curated linking OPN1MW and blue cone monochromacy 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:8561739 (Homo sapiens)
  • 4 RGD objects have been annotated to blue cone monochromacy  (DOID:0050679)
  • 6 papers in RGD have been used to annotate OPN1MW
  • Curation Notes: ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
  • Original References(s): PMID:11772996 PMID:1302020 PMID:15094734 PMID:19421413 PMID:2788922 PMID:8666378


  • An association has been curated linking OPN1MW and blue cone monochromacy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 4 RGD objects have been annotated to blue cone monochromacy  (DOID:0050679)
  • 6 papers in RGD have been used to annotate OPN1MW


  • An association has been curated linking OPN1MW and blue cone monochromacy in Homo sapiens.        

  • The association was inferred from experiment (EXP)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 4 RGD objects have been annotated to blue cone monochromacy  (DOID:0050679)
  • 6 papers in RGD have been used to annotate OPN1MW
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking OPN1MW and blue cone monochromacy in Homo sapiens.        

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Opn1mw (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to blue cone monochromacy  (DOID:0050679)
  • 6 papers in RGD have been used to annotate OPN1MW
  • Curation Notes: OMIM:303700


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