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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV228127 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
  • 56 RGD objects have been annotated to familial hypercholesterolemia  (DOID:13810)
  • 1 papers in RGD have been used to annotate CV228127
  • Curation Notes: ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
  • Original References(s): PMID:1301956 PMID:17196209 PMID:18096825 PMID:20045108 PMID:20809525 PMID:23375686 PMID:25487149 PMID:25525159 PMID:25741868 PMID:28492532 PMID:28645073 PMID:28965616 PMID:32041611 PMID:32977124


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