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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking WRAP53 and Autosomal Recessive Dyskeratosis Congenita in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Zhong F, etal., Genes Dev. 2011 Jan 1;25(1):11-6. doi: 10.1101/gad.2006411.
  • 2 additional annotations were made from Zhong F, etal., Genes Dev. 2011 Jan 1;25(1):11-6. doi: 10.1101/gad.2006411.
  • 35 RGD objects have been annotated to Autosomal Recessive Dyskeratosis Congenita  (DOID:9004373)
  • 21 papers in RGD have been used to annotate WRAP53
  • Curation Notes: DNA:mutations:exons:


    • An association has been curated linking WRAP53 and Autosomal Recessive Dyskeratosis Congenita in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11629127 (Homo sapiens)
  • 35 RGD objects have been annotated to Autosomal Recessive Dyskeratosis Congenita  (DOID:9004373)
  • 21 papers in RGD have been used to annotate WRAP53
  • Curation Notes: ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


    • An association has been curated linking WRAP53 and Autosomal Recessive Dyskeratosis Congenita in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11545612|RGD:11665850 (Homo sapiens) & RGD:11545612|RGD:11665850 (Homo sapiens)
  • 35 RGD objects have been annotated to Autosomal Recessive Dyskeratosis Congenita  (DOID:9004373)
  • 21 papers in RGD have been used to annotate WRAP53
  • Curation Notes: ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking WRAP53 and Autosomal Recessive Dyskeratosis Congenita in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11646809|RGD:11652964|RGD:11659944|RGD:11666051 (Homo sapiens) & RGD:11646809|RGD:11652964|RGD:11659944|RGD:11666051 (Homo sapiens) & RGD:11646809|RGD:11652964|RGD:11659944|RGD:11666051 (Homo sapiens) & RGD:11646809|RGD:11652964|RGD:11659944|RGD:11666051 (Homo sapiens)
  • 35 RGD objects have been annotated to Autosomal Recessive Dyskeratosis Congenita  (DOID:9004373)
  • 21 papers in RGD have been used to annotate WRAP53
  • Curation Notes: ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive


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