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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking COL1A1 and Ehlers-Danlos syndrome classic type 1 in Sus scrofa.        

  • 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 COL1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 81 RGD objects have been annotated to Ehlers-Danlos syndrome classic type 1  (DOID:14720)
  • 0 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
  • Original References(s): PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532


    • An association has been curated linking COL1A1 and Ehlers-Danlos syndrome classic type 1 in Sus scrofa.        

  • 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 COL1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 81 RGD objects have been annotated to Ehlers-Danlos syndrome classic type 1  (DOID:14720)
  • 0 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
  • Original References(s): PMID:10739762 PMID:16786509 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532


    • An association has been curated linking COL1A1 and Ehlers-Danlos syndrome classic type 1 in Sus scrofa.        

  • 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 COL1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 81 RGD objects have been annotated to Ehlers-Danlos syndrome classic type 1  (DOID:14720)
  • 0 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1
  • Original References(s): PMID:10739762 PMID:25741868 PMID:28492532


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