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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking Opa1 and optic atrophy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Davies VJ, etal., Hum Mol Genet. 2007 Jun 1;16(11):1307-18. Epub 2007 Apr 11.
  • The annotation has been inferred from sequence orthology with Opa1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Davies VJ, etal., Hum Mol Genet. 2007 Jun 1;16(11):1307-18. Epub 2007 Apr 11.
  • 3 RGD objects have been annotated to optic atrophy 1  (DOID:0111441)
  • 64 papers in RGD have been used to annotate Opa1
  • Curation Notes: DNA:nonsense mutation:exon:p.Q285X (mouse)


    • An association has been curated linking Opa1 and optic atrophy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cohn AC, etal., Am J Ophthalmol. 2007 Apr;143(4):656-62. Epub 2007 Feb 15.
  • The annotation has been inferred from sequence orthology with OPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Cohn AC, etal., Am J Ophthalmol. 2007 Apr;143(4):656-62. Epub 2007 Feb 15.
  • 3 RGD objects have been annotated to optic atrophy 1  (DOID:0111441)
  • 64 papers in RGD have been used to annotate Opa1
  • Curation Notes: DNA:deletions, SNPs, insertion/deletion:exons, intron, cds:multiple


    • An association has been curated linking Opa1 and optic atrophy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Han J, etal., Genet Med. 2006 Apr;8(4):217-25.
  • The annotation has been inferred from sequence orthology with OPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Han J, etal., Genet Med. 2006 Apr;8(4):217-25.
  • 3 RGD objects have been annotated to optic atrophy 1  (DOID:0111441)
  • 64 papers in RGD have been used to annotate Opa1
  • Curation Notes: DNA:SNPs, deletions:exons:multiple


    • An association has been curated linking Opa1 and optic atrophy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Chen Y, etal., Mol Vis. 2013;19:292-302. Epub 2013 Feb 6.
  • The annotation has been inferred from sequence orthology with OPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Chen Y, etal., Mol Vis. 2013;19:292-302. Epub 2013 Feb 6.
  • 3 RGD objects have been annotated to optic atrophy 1  (DOID:0111441)
  • 64 papers in RGD have been used to annotate Opa1
  • Curation Notes: DNA:mutations:multiple


    • An association has been curated linking Opa1 and optic atrophy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Alavi MV, etal., Brain. 2007 Apr;130(Pt 4):1029-42. Epub 2007 Feb 21.
  • The annotation has been inferred from sequence orthology with Opa1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Alavi MV, etal., Brain. 2007 Apr;130(Pt 4):1029-42. Epub 2007 Feb 21.
  • 3 RGD objects have been annotated to optic atrophy 1  (DOID:0111441)
  • 64 papers in RGD have been used to annotate Opa1
  • Curation Notes: DNA:splice-site mutation:intron:c.1065+5G>A (mouse)


    • An association has been curated linking Opa1 and optic atrophy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Fuhrmann N, etal., Mol Neurodegener. 2010 Jun 14;5:25. doi: 10.1186/1750-1326-5-25.
  • The annotation has been inferred from sequence orthology with OPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Fuhrmann N, etal., Mol Neurodegener. 2010 Jun 14;5:25. doi: 10.1186/1750-1326-5-25.
  • 3 RGD objects have been annotated to optic atrophy 1  (DOID:0111441)
  • 64 papers in RGD have been used to annotate Opa1
  • Curation Notes: DNA:duplication:exons, introns:g.194832822_194840568dup (human)


    • An association has been curated linking Opa1 and optic atrophy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Li Y, etal., Mol Vis. 2008;14:2451-7. Epub 2008 Dec 29.
  • The annotation has been inferred from sequence orthology with OPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Li Y, etal., Mol Vis. 2008;14:2451-7. Epub 2008 Dec 29.
  • 3 RGD objects have been annotated to optic atrophy 1  (DOID:0111441)
  • 64 papers in RGD have been used to annotate Opa1
  • Curation Notes: DNA:splice-site mutation, nonsense mutation:intron, exon:IVS9-2A>G, c.2197C>T (p.R733X) (human)


    • An association has been curated linking Opa1 and optic atrophy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Nakamura M, etal., Ophthalmology. 2006 Mar;113(3):483-488.e1.
  • The annotation has been inferred from sequence orthology with OPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Nakamura M, etal., Ophthalmology. 2006 Mar;113(3):483-488.e1.
  • 3 RGD objects have been annotated to optic atrophy 1  (DOID:0111441)
  • 64 papers in RGD have been used to annotate Opa1
  • Curation Notes: DNA:insertions, deletions, missense mutations, nonsense mutation: :multiple


    • An association has been curated linking Opa1 and optic atrophy 1 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 OPA1 (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to optic atrophy 1  (DOID:0111441)
  • 64 papers in RGD have been used to annotate Opa1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:19900585 PMID:23409176


    • An association has been curated linking Opa1 and optic atrophy 1 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 OPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to optic atrophy 1  (DOID:0111441)
  • 64 papers in RGD have been used to annotate Opa1
  • Qualifier: susceptibility


    • An association has been curated linking Opa1 and optic atrophy 1 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 OPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to optic atrophy 1  (DOID:0111441)
  • 64 papers in RGD have been used to annotate Opa1
  • Curation Notes: ClinVar Annotator: match by term: Dominant hereditary optic atrophy | ClinVar Annotator: match by term: Kjer-type optic atrophy | ClinVar Annotator: match by term: Optic Atrophy Type 1 | ClinVar Annotator: match by term: Optic Atrophy, Dominant | ClinVar Annotator: match by term: Optic atrophy, juvenile
  • Original References(s): PMID:11017079 PMID:11017080 PMID:11440988 PMID:11440989 PMID:11735024 PMID:11810270 PMID:12036970 PMID:12488262 PMID:12566046 PMID:12842213 PMID:14644237 PMID:14961560 PMID:15505825 PMID:15531309 PMID:15948788 PMID:16158427 PMID:16199547 PMID:16240368 PMID:16513463 PMID:16617242 PMID:16785854 PMID:17167772 PMID:17188070 PMID:17251483 PMID:17306754 PMID:17576681 PMID:17722006 PMID:17724190 PMID:18065439 PMID:18158317 PMID:18222991 PMID:18360822 PMID:18496845 PMID:19029523 PMID:19319978 PMID:19581274 PMID:19900585 PMID:20157015 PMID:20185555 PMID:20301426 PMID:20417568 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21203403 PMID:21538838 PMID:21636302 PMID:21646330 PMID:21745197 PMID:21828197 PMID:22042570 PMID:22433900 PMID:22779427 PMID:22857269 PMID:22865259 PMID:23250881 PMID:23384603 PMID:23387428 PMID:23401657 PMID:23916084 PMID:24798923 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25137924 PMID:25146915 PMID:25146916 PMID:25205859 PMID:25326637 PMID:25564500 PMID:25641387 PMID:25741868 PMID:25794858 PMID:26206283 PMID:26385429 PMID:26455272 PMID:26467025 PMID:26561570 PMID:26624494 PMID:26867657 PMID:27290639 PMID:27656661 PMID:27696015 PMID:27858935 PMID:28005958 PMID:28081242 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28926202 PMID:29111013 PMID:29261183 PMID:29389947 PMID:30293569 PMID:30919572 PMID:30972688 PMID:31500643 PMID:31589614 PMID:31609081 PMID:31673222 PMID:31782039 PMID:31816670 PMID:32025183 PMID:32040484 PMID:32202296 PMID:32371413 PMID:32379273 PMID:32855858 PMID:33084218 PMID:33546218 PMID:33841295 PMID:33884488 PMID:34008892 PMID:34242285 PMID:34426522 PMID:34732400 PMID:35741767 PMID:37091313 PMID:37510321 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9536098 PMID:9917792


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