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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking TYMP and cytochrome-c oxidase deficiency disease 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:8691609 (Homo sapiens)
  • 358 RGD objects have been annotated to cytochrome-c oxidase deficiency disease  (DOID:3762)
  • 27 papers in RGD have been used to annotate TYMP
  • Curation Notes: ClinVar Annotator: match by term: Complex IV deficiency
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking TYMP and cytochrome-c oxidase deficiency disease 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:8691612 (Homo sapiens)
  • 358 RGD objects have been annotated to cytochrome-c oxidase deficiency disease  (DOID:3762)
  • 27 papers in RGD have been used to annotate TYMP
  • Curation Notes: ClinVar Annotator: match by term: Complex IV deficiency
  • Original References(s): PMID:12529715 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking TYMP and cytochrome-c oxidase deficiency disease 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:8692824 (Homo sapiens)
  • 358 RGD objects have been annotated to cytochrome-c oxidase deficiency disease  (DOID:3762)
  • 27 papers in RGD have been used to annotate TYMP
  • Curation Notes: ClinVar Annotator: match by term: Complex IV deficiency
  • Original References(s): PMID:23643385 PMID:25741868 PMID:28492532


    • An association has been curated linking TYMP and cytochrome-c oxidase deficiency disease 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:11666016 (Homo sapiens)
  • 358 RGD objects have been annotated to cytochrome-c oxidase deficiency disease  (DOID:3762)
  • 27 papers in RGD have been used to annotate TYMP
  • Curation Notes: ClinVar Annotator: match by term: Complex IV deficiency
  • Original References(s): PMID:25741868


    • An association has been curated linking TYMP and cytochrome-c oxidase deficiency disease 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:11627453|RGD:11630158|RGD:8661028|RGD:8692818|RGD:8692822 (Homo sapiens) & RGD:11627453|RGD:11630158|RGD:8661028|RGD:8692818|RGD:8692822 (Homo sapiens) & RGD:11627453|RGD:11630158|RGD:8661028|RGD:8692818|RGD:8692822 (Homo sapiens) & RGD:11627453|RGD:11630158|RGD:8661028|RGD:8692818|RGD:8692822 (Homo sapiens) & RGD:11627453|RGD:11630158|RGD:8661028|RGD:8692818|RGD:8692822 (Homo sapiens)
  • 358 RGD objects have been annotated to cytochrome-c oxidase deficiency disease  (DOID:3762)
  • 27 papers in RGD have been used to annotate TYMP
  • Curation Notes: ClinVar Annotator: match by term: Complex IV deficiency
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking TYMP and cytochrome-c oxidase deficiency disease 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:11614129|RGD:11627891|RGD:11629556|RGD:11629562|RGD:11650106|RGD:8692820|RGD:8692821 (Homo sapiens) & RGD:11614129|RGD:11627891|RGD:11629556|RGD:11629562|RGD:11650106|RGD:8692820|RGD:8692821 (Homo sapiens) & RGD:11614129|RGD:11627891|RGD:11629556|RGD:11629562|RGD:11650106|RGD:8692820|RGD:8692821 (Homo sapiens) & RGD:11614129|RGD:11627891|RGD:11629556|RGD:11629562|RGD:11650106|RGD:8692820|RGD:8692821 (Homo sapiens) & RGD:11614129|RGD:11627891|RGD:11629556|RGD:11629562|RGD:11650106|RGD:8692820|RGD:8692821 (Homo sapiens) & RGD:11614129|RGD:11627891|RGD:11629556|RGD:11629562|RGD:11650106|RGD:8692820|RGD:8692821 (Homo sapiens) & RGD:11614129|RGD:11627891|RGD:11629556|RGD:11629562|RGD:11650106|RGD:8692820|RGD:8692821 (Homo sapiens)
  • 358 RGD objects have been annotated to cytochrome-c oxidase deficiency disease  (DOID:3762)
  • 27 papers in RGD have been used to annotate TYMP
  • Curation Notes: ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking TYMP and cytochrome-c oxidase deficiency disease 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:11627140|RGD:11665671|RGD:8691615|RGD:8691616|RGD:8692817 (Homo sapiens) & RGD:11627140|RGD:11665671|RGD:8691615|RGD:8691616|RGD:8692817 (Homo sapiens) & RGD:11627140|RGD:11665671|RGD:8691615|RGD:8691616|RGD:8692817 (Homo sapiens) & RGD:11627140|RGD:11665671|RGD:8691615|RGD:8691616|RGD:8692817 (Homo sapiens) & RGD:11627140|RGD:11665671|RGD:8691615|RGD:8691616|RGD:8692817 (Homo sapiens)
  • 358 RGD objects have been annotated to cytochrome-c oxidase deficiency disease  (DOID:3762)
  • 27 papers in RGD have been used to annotate TYMP
  • Curation Notes: ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency


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