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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking FBLN1 and Phelan-McDermid syndrome 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:38598986|RGD:38598994|RGD:38598999|RGD:38599000 (Homo sapiens) & RGD:38598986|RGD:38598994|RGD:38598999|RGD:38599000 (Homo sapiens) & RGD:38598986|RGD:38598994|RGD:38598999|RGD:38599000 (Homo sapiens) & RGD:38598986|RGD:38598994|RGD:38598999|RGD:38599000 (Homo sapiens)
  • 478 RGD objects have been annotated to Phelan-McDermid syndrome  (DOID:0080354)
  • 6 papers in RGD have been used to annotate FBLN1
  • Curation Notes: ClinVar Annotator: match by term: Phelan-McDermid syndrome


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