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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Rpl5 and Diamond-Blackfan anemia 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 RPL5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 151 RGD objects have been annotated to Diamond-Blackfan anemia  (DOID:1339)
  • 19 papers in RGD have been used to annotate Rpl5
  • Curation Notes: ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
  • Original References(s): PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20378560 PMID:20960466 PMID:22689679 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:27432187 PMID:28492532 PMID:28694211 PMID:28991257 PMID:30183354 PMID:30503522 PMID:33718801 PMID:9536098


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