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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking FAM47C and ornithine carbamoyltransferase deficiency 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:26896950 (Homo sapiens)
  • 32 RGD objects have been annotated to ornithine carbamoyltransferase deficiency  (DOID:9271)
  • 2 papers in RGD have been used to annotate FAM47C
  • Curation Notes: ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency
  • Original References(s): PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532


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