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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Vps13d and fetal akinesia deformation sequence 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 VPS13D (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 73 RGD objects have been annotated to fetal akinesia deformation sequence syndrome  (DOID:0111375)
  • 5 papers in RGD have been used to annotate Vps13d
  • Curation Notes: ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1
  • Original References(s): PMID:25741868 PMID:28492532 PMID:31680123


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