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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PTRHD1 and Tatton-Brown-Rahman syndrome 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:156443491 (Homo sapiens)
  • 81 RGD objects have been annotated to Tatton-Brown-Rahman syndrome  (DOID:0112339)
  • 1 papers in RGD have been used to annotate PTRHD1
  • Curation Notes: ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
  • Original References(s): PMID:28492532


    • An association has been curated linking PTRHD1 and Tatton-Brown-Rahman syndrome 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:156443490 (Homo sapiens)
  • 81 RGD objects have been annotated to Tatton-Brown-Rahman syndrome  (DOID:0112339)
  • 1 papers in RGD have been used to annotate PTRHD1
  • Curation Notes: ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
  • Original References(s): PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417


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