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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Ctsc and Papillon-Lefevre disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hart TC, etal., J Med Genet. 1999 Dec;36(12):881-7.
  • The annotation has been inferred from sequence orthology with CTSC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Hart TC, etal., J Med Genet. 1999 Dec;36(12):881-7.
  • 3 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 27 papers in RGD have been used to annotate Ctsc
  • Curation Notes: DNA:nonsense mutation, deletion, substitution: ;856C>T,2692delA,2931G>A


    • An association has been curated linking Ctsc and Papillon-Lefevre disease 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 CTSC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 27 papers in RGD have been used to annotate Ctsc


    • An association has been curated linking Ctsc and Papillon-Lefevre disease 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 CTSC (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 27 papers in RGD have been used to annotate Ctsc
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:10662807 PMID:16008657


    • An association has been curated linking Ctsc and Papillon-Lefevre disease 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 CTSC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 27 papers in RGD have been used to annotate Ctsc
  • Curation Notes: ClinVar Annotator: match by term: Keratosis palmoplantaris with periodontopathia | ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 PMID:11180012 PMID:11180601 PMID:11886537 PMID:12112662 PMID:14974080 PMID:15585850 PMID:18723326 PMID:18809751 PMID:19816003 PMID:23108224 PMID:23311634 PMID:24033266 PMID:24936511 PMID:25741868 PMID:25741905 PMID:25741914 PMID:26205983 PMID:26957212 PMID:27062382 PMID:28242153 PMID:28317349 PMID:28492532 PMID:29410039 PMID:29925593 PMID:31925812 PMID:33586345 PMID:34515563


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