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 CV331088 and Familial Hypophosphatemic Rickets 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
  • 25 RGD objects have been annotated to Familial Hypophosphatemic Rickets  (DOID:9007505)
  • 0 papers in RGD have been used to annotate CV331088
  • Curation Notes: ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532 PMID:35738466


  • Go Back to source page   Continue to Ontology report