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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Tert and Hoyeraal Hreidarsson Syndrome 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 TERT (Homo sapiens) [(EXP) inferred from experiment]
  • 7 RGD objects have been annotated to Hoyeraal Hreidarsson Syndrome  (DOID:9001272)
  • 92 papers in RGD have been used to annotate Tert
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:17785587


    • An association has been curated linking Tert and Hoyeraal Hreidarsson 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 TERT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to Hoyeraal Hreidarsson Syndrome  (DOID:9001272)
  • 92 papers in RGD have been used to annotate Tert
  • Curation Notes: ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia
  • Original References(s): PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 PMID:35078193


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