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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Epb42 and hereditary spherocytosis type 5 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 EPB42 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to hereditary spherocytosis type 5  (DOID:0110920)
  • 9 papers in RGD have been used to annotate Epb42


    • An association has been curated linking Epb42 and hereditary spherocytosis type 5 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 EPB42 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to hereditary spherocytosis type 5  (DOID:0110920)
  • 9 papers in RGD have been used to annotate Epb42
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spherocytosis type 5
  • Original References(s): PMID:10406914 PMID:12176912 PMID:1558976 PMID:15692067 PMID:19508687 PMID:2386772 PMID:25741868 PMID:28492532 PMID:29402830 PMID:32726712 PMID:36203343 PMID:7772513 PMID:7803799 PMID:8319790 PMID:8528207 PMID:8547071 PMID:8635206


    • An association has been curated linking Epb42 and hereditary spherocytosis type 5 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 EPB42 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to hereditary spherocytosis type 5  (DOID:0110920)
  • 9 papers in RGD have been used to annotate Epb42
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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