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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking HELZ2 and autosomal recessive dyskeratosis congenita 5 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 HELZ2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 14 RGD objects have been annotated to autosomal recessive dyskeratosis congenita 5  (DOID:0070022)
  • 0 papers in RGD have been used to annotate HELZ2
  • Curation Notes: ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5
  • Original References(s): PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532


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