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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CFAP410 and axial spondylometaphyseal dysplasia in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with CFAP410 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to axial spondylometaphyseal dysplasia  (DOID:0112299)
  • 0 papers in RGD have been used to annotate CFAP410


  • An association has been curated linking CFAP410 and axial spondylometaphyseal dysplasia in Pan paniscus.        

  • 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 CFAP410 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to axial spondylometaphyseal dysplasia  (DOID:0112299)
  • 0 papers in RGD have been used to annotate CFAP410
  • Curation Notes: ClinVar Annotator: match by term: Axial SMD | ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia
  • Original References(s): PMID:11702989 PMID:20503334 PMID:21910225 PMID:23105016 PMID:25741868 PMID:26167768 PMID:26974433 PMID:27548899 PMID:27596865 PMID:28041643 PMID:28422394 PMID:28492532 PMID:33307614 PMID:34906470


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