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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Rpgr and X-linked cone-rod dystrophy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Demirci FY, etal., Am J Hum Genet. 2002 Apr;70(4):1049-53. Epub 2002 Feb 20.
  • The annotation has been inferred from sequence orthology with RPGR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Demirci FY, etal., Am J Hum Genet. 2002 Apr;70(4):1049-53. Epub 2002 Feb 20.
  • 2 RGD objects have been annotated to X-linked cone-rod dystrophy 1  (DOID:0111008)
  • 27 papers in RGD have been used to annotate Rpgr
  • Curation Notes: DNA:deletions, insertion, snp:cds:multiple (human)


    • An association has been curated linking Rpgr and X-linked cone-rod dystrophy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Yang Z, etal., Hum Mol Genet. 2002 Mar 1;11(5):605-11.
  • The annotation has been inferred from sequence orthology with RPGR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Yang Z, etal., Hum Mol Genet. 2002 Mar 1;11(5):605-11.
  • 2 RGD objects have been annotated to X-linked cone-rod dystrophy 1  (DOID:0111008)
  • 27 papers in RGD have been used to annotate Rpgr
  • Curation Notes: DNA:deletions:exon:g.47192_47206del15, g.47841_47842delGG (human)


    • An association has been curated linking Rpgr and X-linked cone-rod dystrophy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Brunner S, etal., Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1106-15. doi: 10.1167/iovs.08-2742. Epub 2009 Dec 10.
  • The annotation has been inferred from sequence orthology with Rpgr (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Brunner S, etal., Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1106-15. doi: 10.1167/iovs.08-2742. Epub 2009 Dec 10.
  • 2 RGD objects have been annotated to X-linked cone-rod dystrophy 1  (DOID:0111008)
  • 27 papers in RGD have been used to annotate Rpgr


    • An association has been curated linking Rpgr and X-linked cone-rod dystrophy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with RPGR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to X-linked cone-rod dystrophy 1  (DOID:0111008)
  • 27 papers in RGD have been used to annotate Rpgr


    • An association has been curated linking Rpgr and X-linked cone-rod dystrophy 1 in Rattus norvegicus.        

  • 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 Rpgr (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to X-linked cone-rod dystrophy 1  (DOID:0111008)
  • 27 papers in RGD have been used to annotate Rpgr
  • Curation Notes: OMIM:304020


    • An association has been curated linking Rpgr and X-linked cone-rod dystrophy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with RPGR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to X-linked cone-rod dystrophy 1  (DOID:0111008)
  • 27 papers in RGD have been used to annotate Rpgr
  • Curation Notes: ClinVar Annotator: match by term: X-linked cone-rod dystrophy | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1
  • Original References(s): PMID:10480356 PMID:10482958 PMID:10932196 PMID:10937588 PMID:11857109 PMID:11875055 PMID:12657579 PMID:14691151 PMID:15914600 PMID:16055928 PMID:16199547 PMID:16969763 PMID:17195164 PMID:18332319 PMID:22264887 PMID:23150612 PMID:23372056 PMID:23681342 PMID:24033266 PMID:25741868 PMID:26197217 PMID:26747767 PMID:27620828 PMID:27995965 PMID:28492532 PMID:29785639 PMID:30193314 PMID:31630094 PMID:31645972 PMID:31804667 PMID:31953110 PMID:32795431 PMID:32856788 PMID:33355362 PMID:34745198 PMID:34906470 PMID:34985506 PMID:35432464 PMID:35806195 PMID:36460718 PMID:8673101


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