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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking RMND5B and autosomal recessive dyskeratosis congenita 2 in Pan paniscus.        

  • 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 RMND5B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal recessive dyskeratosis congenita 2  (DOID:0070017)
  • 0 papers in RGD have been used to annotate RMND5B
  • Curation Notes: ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2
  • Original References(s): PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532


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