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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Prpf31 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 PRPF31 (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.
  • 625 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 10 papers in RGD have been used to annotate Prpf31


    • An association has been curated linking Prpf31 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 PRPF31 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 625 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 10 papers in RGD have been used to annotate Prpf31
  • 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, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:16199547 PMID:16799052 PMID:18317597 PMID:19506198 PMID:23288994 PMID:23950152 PMID:25324289 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28512305 PMID:29260190 PMID:29847639 PMID:30337596 PMID:30582903 PMID:3071870 PMID:30718709 PMID:30921587 PMID:33090715 PMID:33095315 PMID:34906470


    • An association has been curated linking Prpf31 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 PRPF31 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 625 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 10 papers in RGD have been used to annotate Prpf31
  • 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:16799052 PMID:18317597 PMID:19506198 PMID:23288994 PMID:23950152 PMID:25741868 PMID:28041643 PMID:28166811 PMID:28492532 PMID:29847639 PMID:30337596 PMID:30582903 PMID:30718709 PMID:30921587 PMID:33095315


    • An association has been curated linking Prpf31 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 PRPF31 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 625 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 10 papers in RGD have been used to annotate Prpf31
  • 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:16199547 PMID:16799052 PMID:18317597 PMID:19506198 PMID:23288994 PMID:23950152 PMID:25324289 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28512305 PMID:29260190 PMID:29847639 PMID:30337596 PMID:30582903 PMID:3071870 PMID:30718709 PMID:30921587 PMID:31814694 PMID:33090715 PMID:33095315 PMID:34906470 PMID:36909829


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