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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Trpv3 and autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 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 TRPV3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques  (DOID:0112013)
  • 13 papers in RGD have been used to annotate Trpv3
  • Curation Notes: ClinVar Annotator: match by term: Olmsted syndrome 1
  • Original References(s): PMID:22405088


  • An association has been curated linking Trpv3 and autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 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 TRPV3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques  (DOID:0112013)
  • 13 papers in RGD have been used to annotate Trpv3


  • An association has been curated linking Trpv3 and autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 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 TRPV3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques  (DOID:0112013)
  • 13 papers in RGD have been used to annotate Trpv3
  • Curation Notes: ClinVar Annotator: match by term: Olmsted syndrome 1
  • Original References(s): PMID:24452206 PMID:25741868 PMID:28492532 PMID:28587736


  • An association has been curated linking Trpv3 and autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 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 TRPV3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques  (DOID:0112013)
  • 13 papers in RGD have been used to annotate Trpv3
  • Curation Notes: ClinVar Annotator: match by term: Olmsted syndrome 1


  • An association has been curated linking Trpv3 and autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 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 TRPV3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques  (DOID:0112013)
  • 13 papers in RGD have been used to annotate Trpv3
  • Curation Notes: ClinVar Annotator: match by term: Olmsted syndrome 1
  • Original References(s): PMID:22405088 PMID:25741868


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