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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Comt and autism spectrum disorder in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Radoeva PD, etal., Psychiatr Genet. 2014 Dec;24(6):269-72. doi: 10.1097/YPG.0000000000000062.
  • The annotation has been inferred from sequence orthology with COMT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Radoeva PD, etal., Psychiatr Genet. 2014 Dec;24(6):269-72. doi: 10.1097/YPG.0000000000000062.
  • 2389 RGD objects have been annotated to autism spectrum disorder  (DOID:0060041)
  • 112 papers in RGD have been used to annotate Comt
  • Qualifier: susceptibility
  • Curation Notes: associated with velocardiofacial syndrome;DNA:polymorphism:cds:rs4680(p.V158M)(human)


    • An association has been curated linking Comt and autism spectrum disorder in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with COMT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2389 RGD objects have been annotated to autism spectrum disorder  (DOID:0060041)
  • 112 papers in RGD have been used to annotate Comt
  • Curation Notes: ClinVar Annotator: match by term: Autism spectrum disorder
  • Original References(s): PMID:25741868 PMID:27569545


    • An association has been curated linking Comt and autism spectrum disorder in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COMT (Homo sapiens) [(EXP) inferred from experiment]
  • 2389 RGD objects have been annotated to autism spectrum disorder  (DOID:0060041)
  • 112 papers in RGD have been used to annotate Comt
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:35663546


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