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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Dync2i1 and asphyxiating thoracic dystrophy 3 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 DYNC2I1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to asphyxiating thoracic dystrophy 3  (DOID:0110087)
  • 4 papers in RGD have been used to annotate Dync2i1
  • Curation Notes: ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29068549


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