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GENE - TERM ANNOTATION REPORT

13 Annotations Found.

An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13607144 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 4 papers in RGD have been used to annotate TOP3A
  • Curation Notes: ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
  • Original References(s): PMID:29290614


  • An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13607143 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 4 papers in RGD have been used to annotate TOP3A
  • Curation Notes: ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
  • Original References(s): PMID:29290614


  • An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:14698564 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 4 papers in RGD have been used to annotate TOP3A
  • Curation Notes: ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
  • Original References(s): PMID:25741868


  • An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 4 papers in RGD have been used to annotate TOP3A


  • An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:150471580 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 4 papers in RGD have been used to annotate TOP3A
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151663201 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 4 papers in RGD have been used to annotate TOP3A
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151663202 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 4 papers in RGD have been used to annotate TOP3A
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:126739859 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 4 papers in RGD have been used to annotate TOP3A
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
  • Original References(s): PMID:25741868


  • An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:126739868 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 4 papers in RGD have been used to annotate TOP3A
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
  • Original References(s): PMID:25741868


  • An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151663204 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 4 papers in RGD have been used to annotate TOP3A
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
  • Original References(s): PMID:25741868


  • An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151663200 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 4 papers in RGD have been used to annotate TOP3A
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
  • Original References(s): PMID:25741868


  • An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151663206 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 4 papers in RGD have been used to annotate TOP3A
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
  • Original References(s): PMID:25741868


  • An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:14698406 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 4 papers in RGD have been used to annotate TOP3A
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
  • Original References(s): PMID:24509834 PMID:25741868 PMID:37013609


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