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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking TERT and autosomal recessive dyskeratosis congenita 4 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:12882252 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive dyskeratosis congenita 4  (DOID:0070021)
  • 81 papers in RGD have been used to annotate TERT
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4
  • Original References(s): PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115


    • An association has been curated linking TERT and autosomal recessive dyskeratosis congenita 4 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:8602055 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive dyskeratosis congenita 4  (DOID:0070021)
  • 81 papers in RGD have been used to annotate TERT
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4
  • Original References(s): PMID:17785587 PMID:20301779 PMID:25741868 PMID:26887940 PMID:28192371 PMID:28492532


    • An association has been curated linking TERT and autosomal recessive dyskeratosis congenita 4 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:8599132 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive dyskeratosis congenita 4  (DOID:0070021)
  • 81 papers in RGD have been used to annotate TERT
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4
  • Original References(s): PMID:15814878 PMID:18042801 PMID:18753630 PMID:18931339 PMID:20301779 PMID:21258621 PMID:23901009 PMID:23905534 PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking TERT and autosomal recessive dyskeratosis congenita 4 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:8602056 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive dyskeratosis congenita 4  (DOID:0070021)
  • 81 papers in RGD have been used to annotate TERT
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4
  • Original References(s): PMID:17785587 PMID:20301779 PMID:28492532 PMID:30603600


    • An association has been curated linking TERT and autosomal recessive dyskeratosis congenita 4 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:8602057 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive dyskeratosis congenita 4  (DOID:0070021)
  • 81 papers in RGD have been used to annotate TERT
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4
  • Original References(s): PMID:18042801 PMID:18635888 PMID:18931339 PMID:20301779 PMID:21602826 PMID:23901009 PMID:25365545 PMID:25741868 PMID:27418648 PMID:28492532 PMID:30523342


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