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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Gnaq and Klippel-Trenaunay syndrome in Mus musculus.        

  • 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 GNAQ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Klippel-Trenaunay syndrome  (DOID:2926)
  • 19 papers in RGD have been used to annotate Gnaq
  • Curation Notes: ClinVar Annotator: match by term: KTW syndrome
  • Original References(s): PMID:23656586 PMID:25188413 PMID:25741868 PMID:39434542


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