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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Nkiras1 and Diamond-Blackfan anemia 12 in Mus musculus.        

  • 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 NKIRAS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Diamond-Blackfan anemia 12  (DOID:0111882)
  • 4 papers in RGD have been used to annotate Nkiras1
  • Curation Notes: ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition
  • Original References(s): PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205


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