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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking NFE2L2 and IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA in Chlorocebus sabaeus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with NFE2L2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  (DOID:9009072)
  • 0 papers in RGD have been used to annotate NFE2L2


    • An association has been curated linking NFE2L2 and IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA in Chlorocebus sabaeus.        

  • 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 NFE2L2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  (DOID:9009072)
  • 0 papers in RGD have been used to annotate NFE2L2
  • Curation Notes: ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia | ClinVar Annotator: match by term: NFE2L2-related condition
  • Original References(s): PMID:24130096 PMID:24728327 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29018201 PMID:31107239


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