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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Hps3 and Hermansky-Pudlak 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 HPS3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to Hermansky-Pudlak syndrome 1  (DOID:0060539)
  • 8 papers in RGD have been used to annotate Hps3
  • Curation Notes: ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
  • Original References(s): PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847


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