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 CV171159 and congenital structural myopathy 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
  • 189 RGD objects have been annotated to congenital structural myopathy  (DOID:422)
  • 1 papers in RGD have been used to annotate CV171159
  • Curation Notes: ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy
  • Original References(s): PMID:19293840 PMID:21424860 PMID:21839045 PMID:22337857 PMID:23299917 PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532


  • Go Back to source page   Continue to Ontology report