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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV2071995 and growth hormone insensitivity syndrome with immune dysregulation 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
  • 4 RGD objects have been annotated to growth hormone insensitivity syndrome with immune dysregulation 1  (DOID:0080836)
  • 0 papers in RGD have been used to annotate CV2071995
  • Curation Notes: ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • Original References(s): PMID:28492532


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