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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking PEX11B and thrombocytopenia-absent radius 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:126920896 (Homo sapiens)
  • 125 RGD objects have been annotated to thrombocytopenia-absent radius syndrome  (DOID:14699)
  • 5 papers in RGD have been used to annotate PEX11B
  • Curation Notes: ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
  • Original References(s): PMID:28492532


    • An association has been curated linking PEX11B and thrombocytopenia-absent radius 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:151814962 (Homo sapiens)
  • 125 RGD objects have been annotated to thrombocytopenia-absent radius syndrome  (DOID:14699)
  • 5 papers in RGD have been used to annotate PEX11B
  • Curation Notes: ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome
  • Original References(s): PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532


    • An association has been curated linking PEX11B and thrombocytopenia-absent radius 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:15015343|RGD:8570870 (Homo sapiens) & RGD:15015343|RGD:8570870 (Homo sapiens)
  • 125 RGD objects have been annotated to thrombocytopenia-absent radius syndrome  (DOID:14699)
  • 5 papers in RGD have been used to annotate PEX11B
  • Curation Notes: ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome


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