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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ALAS2 and factor VIII deficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:408387586 (Homo sapiens)
  • 573 RGD objects have been annotated to factor VIII deficiency  (DOID:12134)
  • 22 papers in RGD have been used to annotate ALAS2
  • Curation Notes: ClinVar Annotator: match by term: Factor 8 deficiency, congenital
  • Original References(s): PMID:31690835


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