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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Clec6a-ps1 and immunodeficiency with hyper-IgM type 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CLEC6A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to immunodeficiency with hyper-IgM type 2  (DOID:0060758)
  • 2 papers in RGD have been used to annotate Clec6a-ps1
  • Curation Notes: ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
  • Original References(s): PMID:16964591 PMID:28492532


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