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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking RTEL1 and autosomal recessive dyskeratosis congenita 5 in Pan paniscus.        

  • 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 RTEL1 (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 RTEL1


    • An association has been curated linking RTEL1 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 RTEL1 (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 RTEL1
  • Curation Notes: ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5
  • Original References(s): PMID:14534157 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19822871 PMID:23329068 PMID:23453664 PMID:23591994 PMID:23692823 PMID:23729807 PMID:23829372 PMID:23959892 PMID:24009516 PMID:24033266 PMID:24582487 PMID:25047097 PMID:25099625 PMID:25182133 PMID:25326637 PMID:25607374 PMID:25620558 PMID:25640679 PMID:25741868 PMID:25741905 PMID:25848748 PMID:26022962 PMID:26025130 PMID:26136524 PMID:26808564 PMID:26847928 PMID:27128385 PMID:27415407 PMID:27418648 PMID:27540018 PMID:27577878 PMID:27779742 PMID:27824607 PMID:28099038 PMID:28104920 PMID:28192371 PMID:28492532 PMID:28495692 PMID:28495916 PMID:28507545 PMID:28930861 PMID:28979815 PMID:29146883 PMID:29296694 PMID:29344583 PMID:29361909 PMID:29891356 PMID:29981437 PMID:30088779 PMID:30303537 PMID:30462709 PMID:30523160 PMID:30523342 PMID:30995915 PMID:31268371 PMID:31677132 PMID:31785789 PMID:32662942 PMID:33718801 PMID:34021146 PMID:34298581 PMID:35419889 PMID:36622818 PMID:36655009 PMID:37392813 PMID:9536098


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