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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking mt-Nd5 and Leber hereditary optic neuropathy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Liu XL, etal., Ophthalmology. 2011 May;118(5):978-85. Epub 2010 Dec 4.
  • The annotation has been inferred from sequence orthology with MT-ND5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Liu XL, etal., Ophthalmology. 2011 May;118(5):978-85. Epub 2010 Dec 4.
  • 49 RGD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 17 papers in RGD have been used to annotate mt-Nd5
  • Curation Notes: DNA:mutation:: m.12338 T>C


    • An association has been curated linking mt-Nd5 and Leber hereditary optic neuropathy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Mayorov V, etal., Ann Neurol. 2005 Nov;58(5):807-11.
  • The annotation has been inferred from sequence orthology with MT-ND5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Mayorov V, etal., Ann Neurol. 2005 Nov;58(5):807-11.
  • 49 RGD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 17 papers in RGD have been used to annotate mt-Nd5


    • An association has been curated linking mt-Nd5 and Leber hereditary optic neuropathy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Brown MD, etal., Genetics. 1992 Jan;130(1):163-73.
  • The annotation has been inferred from sequence orthology with MT-ND5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Brown MD, etal., Genetics. 1992 Jan;130(1):163-73.
  • 49 RGD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 17 papers in RGD have been used to annotate mt-Nd5
  • Curation Notes: DNA:mutation: :m.13708G>A (human)


    • An association has been curated linking mt-Nd5 and Leber hereditary optic neuropathy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cai W, etal., J Genet Genomics. 2008 Nov;35(11):649-55.
  • The annotation has been inferred from sequence orthology with MT-ND5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Cai W, etal., J Genet Genomics. 2008 Nov;35(11):649-55.
  • 49 RGD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 17 papers in RGD have been used to annotate mt-Nd5
  • Curation Notes: DNA:mutation:exon:p.Y159H(human)


    • An association has been curated linking mt-Nd5 and Leber hereditary optic neuropathy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Valentino ML, etal., J Med Genet. 2006 Jul;43(7):e38.
  • The annotation has been inferred from sequence orthology with MT-ND5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Valentino ML, etal., J Med Genet. 2006 Jul;43(7):e38.
  • 49 RGD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 17 papers in RGD have been used to annotate mt-Nd5
  • Curation Notes: DNA:mutation:exon:13042G>A (A236T) (human)


    • An association has been curated linking mt-Nd5 and Leber hereditary optic neuropathy 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 MT-ND5 (Homo sapiens) [(EXP) inferred from experiment]
  • 49 RGD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 17 papers in RGD have been used to annotate mt-Nd5
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:31669237


    • An association has been curated linking mt-Nd5 and Leber hereditary optic neuropathy 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 MT-ND5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 49 RGD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 17 papers in RGD have been used to annotate mt-Nd5
  • Curation Notes: ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's optic atrophy
  • Original References(s): PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:10894222 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:11938446 PMID:12509858 PMID:12736867 PMID:1417830 PMID:1436530 PMID:14735585 PMID:14998933 PMID:1539598 PMID:1550128 PMID:15767514 PMID:16240359 PMID:16380132 PMID:16816025 PMID:17317336 PMID:1732158 PMID:17400793 PMID:17452590 PMID:17535832 PMID:1764087 PMID:18332249 PMID:18977334 PMID:1900003 PMID:19667215 PMID:19875463 PMID:20018511 PMID:20301353 PMID:21131053 PMID:2137962 PMID:22022272 PMID:22249460 PMID:22577219 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27164671 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:7654063 PMID:8016139 PMID:8042671 PMID:8095070 PMID:8213825 PMID:8250532 PMID:8395787 PMID:8622678 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875


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