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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Psmb8 and proteasome-associated autoinflammatory syndrome 1 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 PSMB8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 160 RGD objects have been annotated to proteasome-associated autoinflammatory syndrome 1  (DOID:0050553)
  • 11 papers in RGD have been used to annotate Psmb8


    • An association has been curated linking Psmb8 and proteasome-associated autoinflammatory syndrome 1 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 PSMB8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 160 RGD objects have been annotated to proteasome-associated autoinflammatory syndrome 1  (DOID:0050553)
  • 11 papers in RGD have been used to annotate Psmb8
  • Curation Notes: ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
  • Original References(s): PMID:20159315 PMID:20534754 PMID:21129723 PMID:21881205 PMID:21953331 PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 PMID:37600812 PMID:8495043


    • An association has been curated linking Psmb8 and proteasome-associated autoinflammatory syndrome 1 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 PSMB8 (Homo sapiens) [(EXP) inferred from experiment]
  • 160 RGD objects have been annotated to proteasome-associated autoinflammatory syndrome 1  (DOID:0050553)
  • 11 papers in RGD have been used to annotate Psmb8
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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