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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking Atxn3 and Machado-Joseph disease in Rattus norvegicus.        

  • 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 ATXN3 (Homo sapiens) [(EXP) inferred from experiment]
  • 5 RGD objects have been annotated to Machado-Joseph disease  (DOID:1440)
  • 18 papers in RGD have been used to annotate Atxn3
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:31378764


    • An association has been curated linking Atxn3 and Machado-Joseph disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kawaguchi Y, etal., Nat Genet. 1994 Nov;8(3):221-8.
  • The annotation has been inferred from sequence orthology with ATXN3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Kawaguchi Y, etal., Nat Genet. 1994 Nov;8(3):221-8.
  • 5 RGD objects have been annotated to Machado-Joseph disease  (DOID:1440)
  • 18 papers in RGD have been used to annotate Atxn3
  • Qualifier: susceptibility


    • An association has been curated linking Atxn3 and Machado-Joseph disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Alves S, etal., Hum Mol Genet. 2010 Jun 15;19(12):2380-94. doi: 10.1093/hmg/ddq111. Epub 2010 Mar 22.
  • The annotation has been inferred from sequence orthology with ATXN3 (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Alves S, etal., Hum Mol Genet. 2010 Jun 15;19(12):2380-94. doi: 10.1093/hmg/ddq111. Epub 2010 Mar 22.
  • 5 RGD objects have been annotated to Machado-Joseph disease  (DOID:1440)
  • 18 papers in RGD have been used to annotate Atxn3
  • Qualifier: treatment


    • An association has been curated linking Atxn3 and Machado-Joseph disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Alves S, etal., Hum Mol Genet. 2008 Jul 15;17(14):2071-83. Epub 2008 Apr 1.
  • The annotation has been inferred from sequence orthology with ATXN3 (Homo sapiens) [(IDA) inferred from direct assay, (IMP) inferred from mutant phenotype]
  • 9 additional annotations were made from Alves S, etal., Hum Mol Genet. 2008 Jul 15;17(14):2071-83. Epub 2008 Apr 1.
  • 5 RGD objects have been annotated to Machado-Joseph disease  (DOID:1440)
  • 18 papers in RGD have been used to annotate Atxn3


    • An association has been curated linking Atxn3 and Machado-Joseph disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Schmidt T, etal., Brain Pathol. 1998 Oct;8(4):669-79.
  • The annotation has been inferred from sequence orthology with ATXN3 (Homo sapiens) [(IEP) inferred from expression pattern]
  • 2 additional annotations were made from Schmidt T, etal., Brain Pathol. 1998 Oct;8(4):669-79.
  • 5 RGD objects have been annotated to Machado-Joseph disease  (DOID:1440)
  • 18 papers in RGD have been used to annotate Atxn3
  • Curation Notes: protein:increased degradation, altered localization:neuron, nucleus


    • An association has been curated linking Atxn3 and Machado-Joseph disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Alves S, etal., PLoS One. 2008 Oct 8;3(10):e3341. doi: 10.1371/journal.pone.0003341.
  • The annotation has been inferred from sequence orthology with ATXN3 (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Alves S, etal., PLoS One. 2008 Oct 8;3(10):e3341. doi: 10.1371/journal.pone.0003341.
  • 5 RGD objects have been annotated to Machado-Joseph disease  (DOID:1440)
  • 18 papers in RGD have been used to annotate Atxn3


    • An association has been curated linking Atxn3 and Machado-Joseph disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ATXN3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to Machado-Joseph disease  (DOID:1440)
  • 18 papers in RGD have been used to annotate Atxn3


    • An association has been curated linking Atxn3 and Machado-Joseph disease in Rattus norvegicus.        

  • 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 ATXN3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to Machado-Joseph disease  (DOID:1440)
  • 18 papers in RGD have been used to annotate Atxn3
  • Curation Notes: ClinVar Annotator: match by term: Azorean disease
  • Original References(s): PMID:25741868


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