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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking OPA1 and dominant optic atrophy plus syndrome in Chlorocebus sabaeus.        

  • 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]
  • 1 RGD objects have been annotated to dominant optic atrophy plus syndrome  (DOID:0111340)
  • 0 papers in RGD have been used to annotate OPA1
  • Qualifier: susceptibility


    • An association has been curated linking OPA1 and dominant optic atrophy plus syndrome in Chlorocebus sabaeus.        

  • 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]
  • 1 RGD objects have been annotated to dominant optic atrophy plus syndrome  (DOID:0111340)
  • 0 papers in RGD have been used to annotate OPA1
  • Curation Notes: ClinVar Annotator: match by term: OPA1-related optic atrophy with or without extraocular features | ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
  • Original References(s): PMID:11017079 PMID:11017080 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:12488262 PMID:12566046 PMID:14644237 PMID:14961560 PMID:15505825 PMID:15531309 PMID:16158427 PMID:16240368 PMID:16513463 PMID:16698014 PMID:17167772 PMID:17188070 PMID:17306754 PMID:17722006 PMID:17724190 PMID:18065439 PMID:18158317 PMID:18195150 PMID:18204809 PMID:18222991 PMID:18496845 PMID:19029523 PMID:19303950 PMID:19319978 PMID:19900585 PMID:20157015 PMID:20185555 PMID:20301426 PMID:20417568 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21112924 PMID:21636302 PMID:21646330 PMID:21745197 PMID:22042570 PMID:22433900 PMID:22779427 PMID:22857269 PMID:23250881 PMID:23388408 PMID:23401657 PMID:23916084 PMID:24798923 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146915 PMID:25146916 PMID:25564500 PMID:25641387 PMID:25741868 PMID:25794858 PMID:26206283 PMID:26385429 PMID:26455272 PMID:26467025 PMID:26561570 PMID:26867657 PMID:27165006 PMID:27290639 PMID:27696015 PMID:27858935 PMID:27890673 PMID:28125838 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28848318 PMID:28926202 PMID:28981474 PMID:29111013 PMID:29389947 PMID:30293569 PMID:30972688 PMID:31500643 PMID:31521625 PMID:31589614 PMID:31609081 PMID:31673222 PMID:31781369 PMID:31782039 PMID:31816670 PMID:32025183 PMID:32040484 PMID:32141364 PMID:32202296 PMID:32371413 PMID:32379273 PMID:32420686 PMID:33546218 PMID:33841295 PMID:33884488 PMID:34008892 PMID:34242285 PMID:34426522 PMID:34732400 PMID:34758253 PMID:35741767 PMID:37091313 PMID:37196654 PMID:39033378 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792


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