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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Psen1 and Hereditary Hemorrhagic Telangiectasia, Type 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 PSEN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to Hereditary Hemorrhagic Telangiectasia, Type 1  (DOID:9002350)
  • 34 papers in RGD have been used to annotate Psen1
  • Curation Notes: ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1
  • Original References(s): PMID:25741868 PMID:29142009 PMID:30822634 PMID:32235595


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