Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV3095854 and asphyxiating thoracic dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • 272 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 0 papers in RGD have been used to annotate CV3095854
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy
  • Original References(s): PMID:28492532


  • Go Back to source page   Continue to Ontology report