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

VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV246257 and familial hypercholesterolemia 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
  • 16 RGD objects have been annotated to familial hypercholesterolemia  (DOID:13810)
  • 0 papers in RGD have been used to annotate CV246257
  • Curation Notes: ClinVar Annotator: match by term: Familial hypercholesterolemia
  • Original References(s): PMID:21382890

  • This annotation was curated on 2019-12-03 05:58:11.0 by RGD . For more information contact us

    Go Back to source page   Continue to Ontology report



    NHLBI Logo

    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.