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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking COL2A1 and spondylometaphyseal dysplasia Algerian type 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 COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondylometaphyseal dysplasia Algerian type  (DOID:0112296)
  • 0 papers in RGD have been used to annotate COL2A1


    • An association has been curated linking COL2A1 and spondylometaphyseal dysplasia Algerian type 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 COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondylometaphyseal dysplasia Algerian type  (DOID:0112296)
  • 0 papers in RGD have been used to annotate COL2A1
  • Curation Notes: ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type
  • Original References(s): PMID:23653587 PMID:38162154


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