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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Sptb and hereditary spherocytosis type 2 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 SPTB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hereditary spherocytosis type 2  (DOID:0110917)
  • 9 papers in RGD have been used to annotate Sptb


    • An association has been curated linking Sptb and hereditary spherocytosis type 2 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]
  • 2 RGD objects have been annotated to hereditary spherocytosis type 2  (DOID:0110917)
  • 9 papers in RGD have been used to annotate Sptb
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition
  • Original References(s): PMID:11703334 PMID:1391962 PMID:1498324 PMID:17576681 PMID:19538529 PMID:25525159 PMID:25741868 PMID:26830532 PMID:27292444 PMID:28102861 PMID:28492532 PMID:29572776 PMID:29758562 PMID:30198572 PMID:30486584 PMID:31122244 PMID:31126250 PMID:31602632 PMID:31807509 PMID:32436265 PMID:32641076 PMID:33074480 PMID:38592584 PMID:6426236 PMID:7883966 PMID:8018926 PMID:8667615 PMID:8844207 PMID:9536098 PMID:9714702


    • An association has been curated linking Sptb and hereditary spherocytosis type 2 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]
  • 2 RGD objects have been annotated to hereditary spherocytosis type 2  (DOID:0110917)
  • 9 papers in RGD have been used to annotate Sptb
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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