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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking ACVR2A and autosomal dominant intellectual developmental disorder 1 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:12892095|RGD:12892096|RGD:12892097|RGD:12892099|RGD:12892100 (Homo sapiens) & RGD:12892095|RGD:12892096|RGD:12892097|RGD:12892099|RGD:12892100 (Homo sapiens) & RGD:12892095|RGD:12892096|RGD:12892097|RGD:12892099|RGD:12892100 (Homo sapiens) & RGD:12892095|RGD:12892096|RGD:12892097|RGD:12892099|RGD:12892100 (Homo sapiens) & RGD:12892095|RGD:12892096|RGD:12892097|RGD:12892099|RGD:12892100 (Homo sapiens)
  • 26 RGD objects have been annotated to autosomal dominant intellectual developmental disorder 1  (DOID:0070031)
  • 12 papers in RGD have been used to annotate ACVR2A
  • Curation Notes: ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder
  • Original References(s): PMID:21981781


    • An association has been curated linking ACVR2A and autosomal dominant intellectual developmental disorder 1 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:12892094|RGD:12892098|RGD:12892695|RGD:12892776 (Homo sapiens) & RGD:12892094|RGD:12892098|RGD:12892695|RGD:12892776 (Homo sapiens) & RGD:12892094|RGD:12892098|RGD:12892695|RGD:12892776 (Homo sapiens) & RGD:12892094|RGD:12892098|RGD:12892695|RGD:12892776 (Homo sapiens)
  • 26 RGD objects have been annotated to autosomal dominant intellectual developmental disorder 1  (DOID:0070031)
  • 12 papers in RGD have been used to annotate ACVR2A
  • Curation Notes: ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder
  • Original References(s): PMID:21981781 PMID:23632792


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