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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking COL5A1 and clubfoot 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:12741744 (Homo sapiens)
  • 37 RGD objects have been annotated to clubfoot  (DOID:11836)
  • 12 papers in RGD have been used to annotate COL5A1
  • Curation Notes: ClinVar Annotator: match by term: Clubfoot
  • Original References(s): PMID:25741868


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