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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking OPA1 and Behr syndrome in Pan paniscus.        

  • 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 Behr syndrome  (DOID:0111580)
  • 0 papers in RGD have been used to annotate OPA1


  • An association has been curated linking OPA1 and Behr syndrome in Pan paniscus.        

  • 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 Behr syndrome  (DOID:0111580)
  • 0 papers in RGD have been used to annotate OPA1
  • Curation Notes: ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of
  • Original References(s): PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17576681 PMID:17722006 PMID:18222991 PMID:18496845 PMID:19303950 PMID:19319978 PMID:19900585 PMID:20157015 PMID:20417568 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23388408 PMID:23401657 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146915 PMID:25146916 PMID:25641387 PMID:25741868 PMID:25794858 PMID:26206283 PMID:26385429 PMID:26455272 PMID:26467025 PMID:26561570 PMID:27165006 PMID:27290639 PMID:27696015 PMID:27890673 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:30293569 PMID:30972688 PMID:31521625 PMID:31782039 PMID:32025183 PMID:32040484 PMID:32202296 PMID:32371413 PMID:32379273 PMID:32420686 PMID:33546218 PMID:33841295 PMID:33884488 PMID:34242285 PMID:34426522 PMID:34732400 PMID:35741767 PMID:37196654 PMID:9490303 PMID:9536098 PMID:9917792


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