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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Dync2h1 and asphyxiating thoracic dystrophy 1 in Ictidomys tridecemlineatus.        

  • 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 DYNC2H1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 20 RGD objects have been annotated to asphyxiating thoracic dystrophy 1  (DOID:0110085)
  • 0 papers in RGD have been used to annotate Dync2h1
  • Curation Notes: ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome
  • Original References(s): PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 PMID:28492532 PMID:29068549 PMID:32753734 PMID:33755199 PMID:34740920


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