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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Prpf8 and retinitis pigmentosa in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from McKie AB, etal., Hum Mol Genet. 2001 Jul 15;10(15):1555-62.
  • The annotation has been inferred from sequence orthology with PRPF8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from McKie AB, etal., Hum Mol Genet. 2001 Jul 15;10(15):1555-62.
  • 629 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 12 papers in RGD have been used to annotate Prpf8


    • An association has been curated linking Prpf8 and retinitis pigmentosa in Mus musculus.        

  • 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 PRPF8 (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.
  • 629 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 12 papers in RGD have been used to annotate Prpf8


    • An association has been curated linking Prpf8 and retinitis pigmentosa in Mus musculus.        

  • 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 PRPF8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 629 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 12 papers in RGD have been used to annotate Prpf8
  • Curation Notes: ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:11468273 PMID:12714658 PMID:16799052 PMID:17576681 PMID:21378395 PMID:24938718 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28515276 PMID:30718709 PMID:31725702 PMID:9536098


    • An association has been curated linking Prpf8 and retinitis pigmentosa in Mus musculus.        

  • 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 PRPF8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 629 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 12 papers in RGD have been used to annotate Prpf8
  • Curation Notes: ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:11468273 PMID:12714658 PMID:16799052 PMID:17576681 PMID:21378395 PMID:24938718 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28515276 PMID:30718709 PMID:31725702 PMID:32531858 PMID:34906470 PMID:36909829 PMID:9536098


    • An association has been curated linking Prpf8 and retinitis pigmentosa in Mus musculus.        

  • 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 PRPF8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 629 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 12 papers in RGD have been used to annotate Prpf8
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:11468273 PMID:12714658 PMID:16799052 PMID:17576681 PMID:21378395 PMID:24938718 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28515276 PMID:29847639 PMID:30718709 PMID:31213501 PMID:31456290 PMID:31725702 PMID:32531858 PMID:32581362 PMID:33090715 PMID:33494148 PMID:33712029 PMID:33749171 PMID:34716235 PMID:34758253 PMID:34906470 PMID:35138024 PMID:36909829 PMID:9536098


    • An association has been curated linking Prpf8 and retinitis pigmentosa in Mus musculus.        

  • 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 PRPF8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 629 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 12 papers in RGD have been used to annotate Prpf8
  • Curation Notes: ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
  • Original References(s): PMID:11468273 PMID:12714658 PMID:16799052 PMID:17576681 PMID:20232351 PMID:21378395 PMID:24938718 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28515276 PMID:29847639 PMID:30718709 PMID:31213501 PMID:31456290 PMID:31725702 PMID:32531858 PMID:32581362 PMID:33090715 PMID:33494148 PMID:33712029 PMID:33749171 PMID:34716235 PMID:34758253 PMID:34906470 PMID:35138024 PMID:36909829 PMID:9536098


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