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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Maciag M, etal., Br J Haematol. 2009 Aug;146(3):326-32. doi: 10.1111/j.1365-2141.2009.07759.x. Epub 2009 Jun 15.
  • The annotation has been inferred from sequence orthology with SPTB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype, (IEP) inferred from expression pattern]
  • 3 additional annotations were made from Maciag M, etal., Br J Haematol. 2009 Aug;146(3):326-32. doi: 10.1111/j.1365-2141.2009.07759.x. Epub 2009 Jun 15.
  • 13 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 9 papers in RGD have been used to annotate Sptb
  • Curation Notes: mRNA:decreased expression:erythrocyte:


    • An association has been curated linking Sptb and hereditary spherocytosis 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 SPTB (Homo sapiens) [(EXP) inferred from experiment]
  • 13 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 9 papers in RGD have been used to annotate Sptb
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:8102379 PMID:19538529


    • An association has been curated linking Sptb 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 SPTB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 13 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 9 papers in RGD have been used to annotate Sptb
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
  • Original References(s): PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899


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