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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Dync2i2 and asphyxiating thoracic dystrophy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with DYNC2I2 (Homo sapiens) [(EXP) inferred from experiment]
  • 233 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 6 papers in RGD have been used to annotate Dync2i2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Dync2i2 and asphyxiating thoracic dystrophy 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 DYNC2I2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 233 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 6 papers in RGD have been used to annotate Dync2i2
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy
  • Original References(s): PMID:19610081 PMID:24183451 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29241935 PMID:32576942 PMID:36268591 PMID:36653407


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