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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Otulin and autosomal dominant craniometaphyseal dysplasia 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 OTULIN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant craniometaphyseal dysplasia  (DOID:0080801)
  • 2 papers in RGD have been used to annotate Otulin
  • Curation Notes: ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
  • Original References(s): PMID:11326272 PMID:19449425 PMID:2712793


  • An association has been curated linking Otulin and autosomal dominant craniometaphyseal dysplasia 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 OTULIN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant craniometaphyseal dysplasia  (DOID:0080801)
  • 2 papers in RGD have been used to annotate Otulin
  • Curation Notes: ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
  • Original References(s): PMID:20358596


  • An association has been curated linking Otulin and autosomal dominant craniometaphyseal dysplasia 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 OTULIN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant craniometaphyseal dysplasia  (DOID:0080801)
  • 2 papers in RGD have been used to annotate Otulin
  • Curation Notes: ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type


  • An association has been curated linking Otulin and autosomal dominant craniometaphyseal dysplasia 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 OTULIN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant craniometaphyseal dysplasia  (DOID:0080801)
  • 2 papers in RGD have been used to annotate Otulin
  • Curation Notes: ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
  • Original References(s): PMID:11326272 PMID:11326338


  • An association has been curated linking Otulin and autosomal dominant craniometaphyseal dysplasia 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 OTULIN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant craniometaphyseal dysplasia  (DOID:0080801)
  • 2 papers in RGD have been used to annotate Otulin
  • Curation Notes: ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
  • Original References(s): PMID:28492532


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