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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Elane and Chediak-Higashi syndrome 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 ELANE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 34 RGD objects have been annotated to Chediak-Higashi syndrome  (DOID:2935)
  • 42 papers in RGD have been used to annotate Elane
  • Curation Notes: ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
  • Original References(s): PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25427142 PMID:25703294 PMID:25741868 PMID:27854218 PMID:28492532


    • An association has been curated linking Elane and Chediak-Higashi syndrome 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 ELANE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 34 RGD objects have been annotated to Chediak-Higashi syndrome  (DOID:2935)
  • 42 papers in RGD have been used to annotate Elane
  • Curation Notes: ClinVar Annotator: match by term: Autoinflammatory syndrome
  • Original References(s): PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25703294 PMID:25741868 PMID:27854218 PMID:28492532


    • An association has been curated linking Elane and Chediak-Higashi syndrome 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 ELANE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 34 RGD objects have been annotated to Chediak-Higashi syndrome  (DOID:2935)
  • 42 papers in RGD have been used to annotate Elane
  • Curation Notes: ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
  • Original References(s): PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25427142 PMID:25703294 PMID:25741868 PMID:28492532 PMID:35047849


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