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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Pde6a and retinitis pigmentosa in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PDE6A (Homo sapiens) [(EXP) inferred from experiment]
  • 607 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 11 papers in RGD have been used to annotate Pde6a
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:7493036 PMID:21039428 PMID:27551530


    • An association has been curated linking Pde6a and retinitis pigmentosa in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19.
  • The annotation has been inferred from sequence orthology with PDE6A (Homo sapiens) [(TAS) traceable author statement]
  • 152 additional annotations were made from Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19.
  • 607 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 11 papers in RGD have been used to annotate Pde6a


    • An association has been curated linking Pde6a and retinitis pigmentosa 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 PDE6A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 607 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 11 papers in RGD have been used to annotate Pde6a
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:10393062 PMID:16199547 PMID:17110911 PMID:18723146 PMID:21147909 PMID:21151602 PMID:22128245 PMID:23105016 PMID:23134348 PMID:23847139 PMID:24265693 PMID:24339724 PMID:24416769 PMID:24512775 PMID:25741868 PMID:25775262 PMID:25999674 PMID:26188004 PMID:26806561 PMID:26868535 PMID:27208204 PMID:27551530 PMID:27820873 PMID:27917291 PMID:28041643 PMID:28492532 PMID:29118501 PMID:29343940 PMID:29693493 PMID:30029497 PMID:30337596 PMID:30619975 PMID:30718709 PMID:30998820 PMID:31213501 PMID:31736247 PMID:33057649 PMID:33090715 PMID:7493036


    • An association has been curated linking Pde6a and retinitis pigmentosa 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 PDE6A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 607 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 11 papers in RGD have been used to annotate Pde6a
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:10393062 PMID:16199547 PMID:17110911 PMID:18723146 PMID:21147909 PMID:21151602 PMID:22128245 PMID:23105016 PMID:23134348 PMID:23847139 PMID:24265693 PMID:24339724 PMID:24416769 PMID:24512775 PMID:25741868 PMID:25775262 PMID:25999674 PMID:26188004 PMID:26306921 PMID:26806561 PMID:26868535 PMID:27208204 PMID:27551530 PMID:27820873 PMID:27917291 PMID:28041643 PMID:28492532 PMID:29118501 PMID:29343940 PMID:29693493 PMID:30029497 PMID:30337596 PMID:30619975 PMID:30718709 PMID:30998820 PMID:31213501 PMID:31736247 PMID:33057649 PMID:33090715 PMID:7493036


    • An association has been curated linking Pde6a and retinitis pigmentosa 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 Pde6a (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 607 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 11 papers in RGD have been used to annotate Pde6a


    • An association has been curated linking Pde6a and retinitis pigmentosa 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 PDE6A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 607 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 11 papers in RGD have been used to annotate Pde6a
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:10393062 PMID:16199547 PMID:17110911 PMID:18723146 PMID:21147909 PMID:21151602 PMID:22128245 PMID:23105016 PMID:23134348 PMID:23847139 PMID:24265693 PMID:24339724 PMID:24416769 PMID:24512775 PMID:25182519 PMID:25741868 PMID:25775262 PMID:25999674 PMID:26188004 PMID:26306921 PMID:26806561 PMID:26868535 PMID:27208204 PMID:27551530 PMID:27820873 PMID:27917291 PMID:28041643 PMID:28492532 PMID:29118501 PMID:29343940 PMID:29693493 PMID:30029497 PMID:30337596 PMID:30619975 PMID:30718709 PMID:30998820 PMID:31213501 PMID:31736247 PMID:33057649 PMID:33090715 PMID:34906470 PMID:35533076 PMID:36819107 PMID:36909829 PMID:7493036


    • An association has been curated linking Pde6a and retinitis pigmentosa 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 PDE6A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 607 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 11 papers in RGD have been used to annotate Pde6a
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:10393062 PMID:16199547 PMID:17110911 PMID:18723146 PMID:21147909 PMID:21151602 PMID:22128245 PMID:23105016 PMID:23134348 PMID:23847139 PMID:24265693 PMID:24339724 PMID:24416769 PMID:24512775 PMID:25182519 PMID:25525159 PMID:25741868 PMID:25775262 PMID:25999674 PMID:26188004 PMID:26306921 PMID:26806561 PMID:26868535 PMID:27208204 PMID:27551530 PMID:27820873 PMID:27884173 PMID:27917291 PMID:28041643 PMID:28492532 PMID:29118501 PMID:29343940 PMID:29693493 PMID:30029497 PMID:30337596 PMID:30619975 PMID:30718709 PMID:30998820 PMID:31213501 PMID:31429209 PMID:31456290 PMID:31589614 PMID:31736247 PMID:3196484 PMID:31964843 PMID:32037395 PMID:32531858 PMID:32579692 PMID:32581362 PMID:33057649 PMID:33090715 PMID:33576794 PMID:33749171 PMID:33946315 PMID:34057927 PMID:34426522 PMID:34906470 PMID:35533076 PMID:36140798 PMID:36284460 PMID:36460718 PMID:36819107 PMID:36909829 PMID:7493036


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