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GENE - TERM ANNOTATION REPORT

31 Annotations Found.

An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Hart TC, etal., J Med Genet. 1999 Dec;36(12):881-7.
  • 2 additional annotations were made from Hart TC, etal., J Med Genet. 1999 Dec;36(12):881-7.
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 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 Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:127266015 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:23108224 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:401797481 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:26957212 PMID:29925593


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 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 Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10049078 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:14974080 PMID:18809751 PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11547295 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:28868056 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:14974080 PMID:24936511


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:28867491 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:23108224


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:152032100 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:33586345


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:26915641 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefevre Disease
  • Original References(s): PMID:23311634 PMID:25741868 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11615138 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:11180601 PMID:24936511 PMID:25741868 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8559813 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:10593994 PMID:28242153 PMID:28492532 PMID:29410039


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8559809 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:10581027 PMID:10662808 PMID:11106356 PMID:11886537 PMID:28242153 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8696211 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:10662808 PMID:11106356 PMID:11886537 PMID:12112662 PMID:28492532 PMID:29410039


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8559819 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:11886537 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11650967 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefevre Disease
  • Original References(s): PMID:11180012 PMID:18723326 PMID:25741868 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8559821 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:10581027 PMID:10662808 PMID:28317349 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11544996|RGD:11605289|RGD:14715849|RGD:14717044|RGD:402492017|RGD:402492793 (Homo sapiens) & RGD:11544996|RGD:11605289|RGD:14715849|RGD:14717044|RGD:402492017|RGD:402492793 (Homo sapiens) & RGD:11544996|RGD:11605289|RGD:14715849|RGD:14717044|RGD:402492017|RGD:402492793 (Homo sapiens) & RGD:11544996|RGD:11605289|RGD:14715849|RGD:14717044|RGD:402492017|RGD:402492793 (Homo sapiens) & RGD:11544996|RGD:11605289|RGD:14715849|RGD:14717044|RGD:402492017|RGD:402492793 (Homo sapiens) & RGD:11544996|RGD:11605289|RGD:14715849|RGD:14717044|RGD:402492017|RGD:402492793 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 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:25741868 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:156207925 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:10662808 PMID:11106356 PMID:11886537 PMID:15585850 PMID:26205983 PMID:28492532 PMID:31925812


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens) & RGD:11598919|RGD:11601918|RGD:11603143|RGD:11603157|RGD:11607489|RGD:11608786|RGD:11614361|RGD:11620202|RGD:11645545|RGD:11650871|RGD:11652103|RGD:11658665|RGD:28867487|RGD:28867944|RGD:28868061|RGD:28868194|RGD:28873432|RGD:28873435|RGD:28873438 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:405281933 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:25741905


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11543384|RGD:11598960|RGD:14396554|RGD:152999179|RGD:243057820|RGD:28867942 (Homo sapiens) & RGD:11543384|RGD:11598960|RGD:14396554|RGD:152999179|RGD:243057820|RGD:28867942 (Homo sapiens) & RGD:11543384|RGD:11598960|RGD:14396554|RGD:152999179|RGD:243057820|RGD:28867942 (Homo sapiens) & RGD:11543384|RGD:11598960|RGD:14396554|RGD:152999179|RGD:243057820|RGD:28867942 (Homo sapiens) & RGD:11543384|RGD:11598960|RGD:14396554|RGD:152999179|RGD:243057820|RGD:28867942 (Homo sapiens) & RGD:11543384|RGD:11598960|RGD:14396554|RGD:152999179|RGD:243057820|RGD:28867942 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:25741868


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13704788 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:10581027 PMID:15585850 PMID:19816003 PMID:25741868 PMID:25741914 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens) & RGD:11599597|RGD:11604131|RGD:11604830|RGD:11605837|RGD:11606215|RGD:11614512|RGD:11617282|RGD:11619951|RGD:11634961|RGD:11649254|RGD:13481605|RGD:14715374|RGD:28867946|RGD:28870475|RGD:28870479|RGD:28910643|RGD:28910787 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8559816 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:11180012 PMID:27062382 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8559817 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:10581027 PMID:11180012 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8559812 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:10593994 PMID:10662807 PMID:28492532


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8696212 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:14974080 PMID:15585850 PMID:19816003 PMID:24033266 PMID:24936511 PMID:28492532 PMID:34515563


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8559818|RGD:8696210 (Homo sapiens) & RGD:8559818|RGD:8696210 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:11886537


    • An association has been curated linking CTSC and Papillon-Lefevre disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8559810|RGD:8559811 (Homo sapiens) & RGD:8559810|RGD:8559811 (Homo sapiens)
  • 4 RGD objects have been annotated to Papillon-Lefevre disease  (DOID:3389)
  • 12 papers in RGD have been used to annotate CTSC
  • Curation Notes: ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
  • Original References(s): PMID:10581027


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