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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking MYOC and severe combined immunodeficiency 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
  • The annotation has been inferred by association of genotype and phenotype with RGD:8597715 (Homo sapiens)
  • 553 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency disease
  • Original References(s): PMID:10815160 PMID:11004290 PMID:11292420 PMID:11535458 PMID:11803488 PMID:11815346 PMID:12189160 PMID:12522550 PMID:12872267 PMID:17562996 PMID:17615537 PMID:19023451 PMID:20021252 PMID:22933836 PMID:23029558 PMID:23304066 PMID:24732711 PMID:25741868 PMID:26396484 PMID:28492532 PMID:9005853 PMID:9639450


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