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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking C1qtnf12 and Ehlers-Danlos syndrome spondylodysplastic type 2 in Rattus norvegicus.        

  • 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 C1QTNF12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 20 RGD objects have been annotated to Ehlers-Danlos syndrome spondylodysplastic type 2  (DOID:0050802)
  • 3 papers in RGD have been used to annotate C1qtnf12
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2
  • Original References(s): PMID:19492091 PMID:28492532


  • An association has been curated linking C1qtnf12 and Ehlers-Danlos syndrome spondylodysplastic type 2 in Rattus norvegicus.        

  • 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 C1QTNF12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 20 RGD objects have been annotated to Ehlers-Danlos syndrome spondylodysplastic type 2  (DOID:0050802)
  • 3 papers in RGD have been used to annotate C1qtnf12
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2
  • Original References(s): PMID:28492532


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