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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking DGUOK and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 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:11531330 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4  (DOID:0111516)
  • 9 papers in RGD have been used to annotate DGUOK
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • Original References(s): PMID:23043144


    • An association has been curated linking DGUOK and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 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:8690831 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4  (DOID:0111516)
  • 9 papers in RGD have been used to annotate DGUOK
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • Original References(s): PMID:16908739 PMID:23043144 PMID:25741868 PMID:28492532


    • An association has been curated linking DGUOK and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 3 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4  (DOID:0111516)
  • 9 papers in RGD have been used to annotate DGUOK


    • An association has been curated linking DGUOK and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 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:10409265 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4  (DOID:0111516)
  • 9 papers in RGD have been used to annotate DGUOK
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • Original References(s): PMID:23043144 PMID:25741868 PMID:28492532 PMID:28902392 PMID:29137425 PMID:29228108 PMID:30283818 PMID:30393377 PMID:30956829 PMID:31664448


    • An association has been curated linking DGUOK and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 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:11531351 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4  (DOID:0111516)
  • 9 papers in RGD have been used to annotate DGUOK
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • Original References(s): PMID:19125351 PMID:23043144 PMID:24423689 PMID:25741868 PMID:28492532 PMID:28493820 PMID:30589726


    • An association has been curated linking DGUOK and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 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:11531356 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4  (DOID:0111516)
  • 9 papers in RGD have been used to annotate DGUOK
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • Original References(s): PMID:18205204 PMID:23043144 PMID:28492532


    • An association has been curated linking DGUOK and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 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:11531232 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4  (DOID:0111516)
  • 9 papers in RGD have been used to annotate DGUOK
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • Original References(s): PMID:11983456 PMID:17073823 PMID:17452231 PMID:18205204 PMID:23043144 PMID:26874653 PMID:28492532


    • An association has been curated linking DGUOK and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 3 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4  (DOID:0111516)
  • 9 papers in RGD have been used to annotate DGUOK
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking DGUOK and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 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:10401564 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4  (DOID:0111516)
  • 9 papers in RGD have been used to annotate DGUOK
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • Original References(s): PMID:25131622 PMID:25741868 PMID:28492532


    • An association has been curated linking DGUOK and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 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:10410172 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4  (DOID:0111516)
  • 9 papers in RGD have been used to annotate DGUOK
  • Curation Notes: ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
  • Original References(s): PMID:17073823 PMID:17452231 PMID:17576681 PMID:18205204 PMID:24642831 PMID:25741868 PMID:28492532 PMID:9536098


    • An association has been curated linking DGUOK and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 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:14702513|RGD:243051471|RGD:8690832 (Homo sapiens) & RGD:14702513|RGD:243051471|RGD:8690832 (Homo sapiens) & RGD:14702513|RGD:243051471|RGD:8690832 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4  (DOID:0111516)
  • 9 papers in RGD have been used to annotate DGUOK
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • Original References(s): PMID:25741868


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