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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Evc2 and asphyxiating thoracic dystrophy in Chinchilla lanigera.        

  • 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 EVC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 227 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 2 papers in RGD have been used to annotate Evc2
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy
  • Original References(s): PMID:16199547 PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 PMID:29068549


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