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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking BC049715 and VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS 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 C12orf60 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS  (DOID:9008737)
  • 2 papers in RGD have been used to annotate BC049715
  • Curation Notes: ClinVar Annotator: match by term: WBP11 spliceosomopathy
  • Original References(s): PMID:25741868 PMID:33276377


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