Send us a Message



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

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CHD7 and 3MC syndrome 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
  • The annotation has been inferred by association of genotype and phenotype with RGD:40813957 (Homo sapiens)
  • 24 RGD objects have been annotated to 3MC syndrome  (DOID:0060225)
  • 13 papers in RGD have been used to annotate CHD7
  • Curation Notes: ClinVar Annotator: match by term: 3MC syndrome
  • Original References(s): PMID:21554267 PMID:28492532


  • Go Back to source page   Continue to Ontology report