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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV26199 and CD40 ligand deficiency 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
  • 3 RGD objects have been annotated to CD40 ligand deficiency  (DOID:0060022)
  • 1 papers in RGD have been used to annotate CV26199
  • Curation Notes: ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
  • Original References(s): PMID:15623492 PMID:25741868 PMID:27189378 PMID:27484504 PMID:29525420 PMID:7679801 PMID:8550833


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