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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Epb42 and hereditary spherocytosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Bouhassira EE, etal., Blood. 1992 Apr 1;79(7):1846-54.
  • The annotation has been inferred from sequence orthology with EPB42 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Bouhassira EE, etal., Blood. 1992 Apr 1;79(7):1846-54.
  • 11 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 9 papers in RGD have been used to annotate Epb42


  • An association has been curated linking Epb42 and hereditary spherocytosis 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]
  • 11 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 9 papers in RGD have been used to annotate Epb42
  • Curation Notes: ClinVar Annotator: match by term: Spherocytosis, Recessive


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