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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Optn and amyotrophic lateral sclerosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Deng HX, etal., Arch Neurol. 2011 Aug;68(8):1057-61.
  • The annotation has been inferred from sequence orthology with OPTN (Homo sapiens) [(IEP) inferred from expression pattern]
  • 2 additional annotations were made from Deng HX, etal., Arch Neurol. 2011 Aug;68(8):1057-61.
  • 381 RGD objects have been annotated to amyotrophic lateral sclerosis  (DOID:332)
  • 39 papers in RGD have been used to annotate Optn
  • Curation Notes: protein:increased expression:spinal cord, neuron


    • An association has been curated linking Optn and amyotrophic lateral sclerosis 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 OPTN (Homo sapiens) [(EXP) inferred from experiment]
  • 381 RGD objects have been annotated to amyotrophic lateral sclerosis  (DOID:332)
  • 39 papers in RGD have been used to annotate Optn
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:21059646 PMID:25096716


    • An association has been curated linking Optn and amyotrophic lateral sclerosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Maruyama H, etal., Nature. 2010 May 13;465(7295):223-6. Epub 2010 Apr 28.
  • The annotation has been inferred from sequence orthology with OPTN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Maruyama H, etal., Nature. 2010 May 13;465(7295):223-6. Epub 2010 Apr 28.
  • 381 RGD objects have been annotated to amyotrophic lateral sclerosis  (DOID:332)
  • 39 papers in RGD have been used to annotate Optn
  • Curation Notes: DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human)


    • An association has been curated linking Optn and amyotrophic lateral sclerosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Del Bo R, etal., J Neurol Neurosurg Psychiatry. 2011 Nov;82(11):1239-43. Epub 2011 May 25.
  • The annotation has been inferred from sequence orthology with OPTN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Del Bo R, etal., J Neurol Neurosurg Psychiatry. 2011 Nov;82(11):1239-43. Epub 2011 May 25.
  • 381 RGD objects have been annotated to amyotrophic lateral sclerosis  (DOID:332)
  • 39 papers in RGD have been used to annotate Optn
  • Curation Notes: DNA:missense mutations, nonsense mutation:cds, intron:multiple


    • An association has been curated linking Optn and amyotrophic lateral sclerosis 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 OPTN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 381 RGD objects have been annotated to amyotrophic lateral sclerosis  (DOID:332)
  • 39 papers in RGD have been used to annotate Optn
  • Curation Notes: ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
  • Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098


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