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GENE - TERM ANNOTATION REPORT

17 Annotations Found.

An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • The association was inferred from mutant phenotype (IMP)
  •  
  • The annotation was made from Jing R, etal., Cell Rep. 2018 Nov 6;25(6):1469-1484.e5. doi: 10.1016/j.celrep.2018.10.036.
  • 2 additional annotations were made from Jing R, etal., Cell Rep. 2018 Nov 6;25(6):1469-1484.e5. doi: 10.1016/j.celrep.2018.10.036.
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Zhou X, etal., Hum Mol Genet. 2019 Sep 1;28(17):2874-2884. doi: 10.1093/hmg/ddz103.
  • The annotation has been inferred from sequence orthology with Dguok (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Zhou X, etal., Hum Mol Genet. 2019 Sep 1;28(17):2874-2884. doi: 10.1093/hmg/ddz103.
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
  • Original References(s): PMID:25741868


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
  • Original References(s): PMID:12205643


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
  • Original References(s): PMID:15887277


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
  • Original References(s): PMID:16908739


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
  • Original References(s): PMID:17073823


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 3
  • Original References(s): PMID:11983456, PMID:17073823, PMID:17452231, PMID:23043144, PMID:26874653


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
  • Original References(s): PMID:12210798


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
  • Original References(s): PMID:25131622


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
  • Original References(s): PMID:11687800, PMID:9175742


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
  • Original References(s): PMID:17073823, PMID:22622127, PMID:25741868, PMID:28492532


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
  • Original References(s): PMID:11687800


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
  • Original References(s): PMID:28492532


  • An association has been curated linking Dguok and mitochondrial DNA depletion syndrome 3 in Rattus norvegicus.        

  • 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 DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in CRRD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
  • Original References(s): PMID:16908739, PMID:23043144, PMID:25741868


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.