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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking NDUFS2 and Leigh disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Tuppen HA, etal., Brain. 2010 Oct;133(10):2952-63. Epub 2010 Sep 6.
  • 2 additional annotations were made from Tuppen HA, etal., Brain. 2010 Oct;133(10):2952-63. Epub 2010 Sep 6.
  • 58 CRRD objects have been annotated to Leigh disease  (DOID:3652)
  • 12 papers in CRRD have been used to annotate NDUFS2
  • Curation Notes: DNA:missense mutation:cds:p.M292T (human)


  • An association has been curated linking Ndufs2 and Leigh disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Tuppen HA, etal., Brain. 2010 Oct;133(10):2952-63. Epub 2010 Sep 6.
  • The annotation has been inferred from sequence orthology with NDUFS2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Tuppen HA, etal., Brain. 2010 Oct;133(10):2952-63. Epub 2010 Sep 6.
  • 58 CRRD objects have been annotated to Leigh disease  (DOID:3652)
  • 15 papers in CRRD have been used to annotate Ndufs2
  • Curation Notes: DNA:missense mutation:cds:p.M292T (human)


  • An association has been curated linking Ndufs2 and Leigh disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Tuppen HA, etal., Brain. 2010 Oct;133(10):2952-63. Epub 2010 Sep 6.
  • The annotation has been inferred from sequence orthology with NDUFS2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Tuppen HA, etal., Brain. 2010 Oct;133(10):2952-63. Epub 2010 Sep 6.
  • 58 CRRD objects have been annotated to Leigh disease  (DOID:3652)
  • 12 papers in CRRD have been used to annotate Ndufs2
  • Curation Notes: DNA:missense mutation:cds:p.M292T (human)


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.