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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Spta1 and hereditary spherocytosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Delaunay J, etal., Br J Haematol. 2004 Oct;127(1):118-22.
  • The annotation has been inferred from sequence orthology with SPTA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Delaunay J, etal., Br J Haematol. 2004 Oct;127(1):118-22.
  • 13 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 14 papers in RGD have been used to annotate Spta1
  • Curation Notes: DNA:polymorphisms:introns,exon:


    • An association has been curated linking Spta1 and hereditary spherocytosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Wandersee NJ, etal., Hematol J. 2000;1(4):235-42.
  • The annotation has been inferred from sequence orthology with Spta1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Wandersee NJ, etal., Hematol J. 2000;1(4):235-42.
  • 13 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 14 papers in RGD have been used to annotate Spta1
  • Curation Notes: DNA:deletion:cds:


    • An association has been curated linking Spta1 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 SPTA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 13 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 14 papers in RGD have been used to annotate Spta1
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
  • Original References(s): PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 PMID:28492532 PMID:30976395 PMID:31038472 PMID:31147440 PMID:31333484 PMID:31723846 PMID:8941647


    • An association has been curated linking Spta1 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 SPTA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 13 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 14 papers in RGD have been used to annotate Spta1
  • Curation Notes: ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive
  • Original References(s): PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 PMID:28492532 PMID:31038472 PMID:31147440 PMID:31333484 PMID:31723846 PMID:8941647


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