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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking Mt-nd6 and Leber hereditary optic neuropathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Lin CS, etal., Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):20065-70. doi: 10.1073/pnas.1217113109. Epub 2012 Nov 5.
  • The annotation has been inferred from sequence orthology with mt-Nd6 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Lin CS, etal., Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):20065-70. doi: 10.1073/pnas.1217113109. Epub 2012 Nov 5.
  • 24 CRRD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 19 papers in CRRD have been used to annotate Mt-nd6
  • Curation Notes: DNA:mutation: :m.13997G>A (p.P25L) (mouse)

  • This annotation was curated on 2018-05-12 09:00:40.0 by CRRD . For more information contact us

    An association has been curated linking Mt-nd6 and Leber hereditary optic neuropathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Zhao F, etal., Biochem Biophys Res Commun. 2009 Nov 20;389(3):466-72. doi: 10.1016/j.bbrc.2009.08.168. Epub 2009 Sep 2.
  • The annotation has been inferred from sequence orthology with MT-ND6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Zhao F, etal., Biochem Biophys Res Commun. 2009 Nov 20;389(3):466-72. doi: 10.1016/j.bbrc.2009.08.168. Epub 2009 Sep 2.
  • 24 CRRD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 19 papers in CRRD have been used to annotate Mt-nd6
  • Curation Notes: DNA:missense mutation:cds:m.14502T>C (p.I58V) (human)

  • This annotation was curated on 2018-12-19 13:03:26.0 by CRRD . For more information contact us

    An association has been curated linking Mt-nd6 and Leber hereditary optic neuropathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Zhang J, etal., Mitochondrion. 2013 Nov;13(6):772-81. doi: 10.1016/j.mito.2013.05.002. Epub 2013 May 9.
  • The annotation has been inferred from sequence orthology with MT-ND6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Zhang J, etal., Mitochondrion. 2013 Nov;13(6):772-81. doi: 10.1016/j.mito.2013.05.002. Epub 2013 May 9.
  • 24 CRRD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 19 papers in CRRD have been used to annotate Mt-nd6
  • Curation Notes: DNA:SNP, haplotypes: :m.14484T>C (human)

  • This annotation was curated on 2018-12-18 17:34:54.0 by CRRD . For more information contact us

    An association has been curated linking Mt-nd6 and Leber hereditary optic neuropathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Liang M, etal., Invest Ophthalmol Vis Sci. 2014 Mar 6;55(3):1321-31. doi: 10.1167/iovs.13-13011.
  • The annotation has been inferred from sequence orthology with MT-ND6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Liang M, etal., Invest Ophthalmol Vis Sci. 2014 Mar 6;55(3):1321-31. doi: 10.1167/iovs.13-13011.
  • 24 CRRD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 19 papers in CRRD have been used to annotate Mt-nd6
  • Curation Notes: DNA:missense mutations, haplotypes:cds:multiple

  • This annotation was curated on 2018-12-19 14:06:55.0 by CRRD . For more information contact us

    An association has been curated linking Mt-nd6 and Leber hereditary optic neuropathy 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 MT-ND6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 CRRD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 19 papers in CRRD have been used to annotate Mt-nd6
  • Curation Notes: ClinVar Annotator: match by term: Leber's optic atrophy
  • Original References(s): PMID:10072046, PMID:10631164, PMID:12205655, PMID:12736867, PMID:12827453, PMID:1463007, PMID:15954041, PMID:1634041, PMID:18674747, PMID:5511487, PMID:9012411, PMID:9849804

  • This annotation was curated on 2019-10-08 13:08:03.0 by CRRD . For more information contact us

    An association has been curated linking Mt-nd6 and Leber hereditary optic neuropathy 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 MT-ND6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 CRRD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 19 papers in CRRD have been used to annotate Mt-nd6
  • Curation Notes: ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
  • Original References(s): PMID:10894222, PMID:14735585, PMID:16380132, PMID:7654063, PMID:8016139

  • This annotation was curated on 2019-10-08 13:07:49.0 by CRRD . For more information contact us

    An association has been curated linking Mt-nd6 and Leber hereditary optic neuropathy 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 MT-ND6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 CRRD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 19 papers in CRRD have been used to annotate Mt-nd6
  • Curation Notes: ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
  • Original References(s): PMID:12112086

  • This annotation was curated on 2019-10-08 13:07:50.0 by CRRD . For more information contact us

    An association has been curated linking Mt-nd6 and Leber hereditary optic neuropathy 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 MT-ND6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 CRRD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 19 papers in CRRD have been used to annotate Mt-nd6
  • Curation Notes: ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
  • Original References(s): PMID:11133798

  • This annotation was curated on 2019-10-08 13:07:49.0 by CRRD . For more information contact us

    An association has been curated linking Mt-nd6 and Leber hereditary optic neuropathy 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 MT-ND6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 CRRD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 19 papers in CRRD have been used to annotate Mt-nd6
  • Curation Notes: ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber

  • This annotation was curated on 2019-10-08 13:08:28.0 by CRRD . For more information contact us

    An association has been curated linking Mt-nd6 and Leber hereditary optic neuropathy 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 MT-ND6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 CRRD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 19 papers in CRRD have been used to annotate Mt-nd6
  • Curation Notes: ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
  • Original References(s): PMID:8644732

  • This annotation was curated on 2019-10-08 13:07:49.0 by CRRD . For more information contact us

    An association has been curated linking Mt-nd6 and Leber hereditary optic neuropathy 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 MT-ND6 (Homo sapiens) [(EXP) inferred from experiment]
  • 24 CRRD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 19 papers in CRRD have been used to annotate Mt-nd6
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:15342361, PMID:24569607

  • This annotation was curated on 2019-10-08 04:42:50.0 by CRRD . For more information contact us

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