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 CV394108 and Tumor Predisposition Syndrome 1 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
  • 5 RGD objects have been annotated to Tumor Predisposition Syndrome 1  (DOID:9002089)
  • 0 papers in RGD have been used to annotate CV394108
  • Curation Notes: ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations
  • Original References(s): PMID:25741868 PMID:26719535 PMID:28492532


  • Go Back to source page   Continue to Ontology report