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GENE - TERM ANNOTATION REPORT

4 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.
  • 2 RGD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in RGD 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.
  • 2 RGD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in RGD 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 OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with DGUOK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in RGD 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]
  • 2 RGD objects have been annotated to mitochondrial DNA depletion syndrome 3  (DOID:0080121)
  • 13 papers in RGD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 | ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
  • Original References(s): PMID:11687800 PMID:11983456 PMID:12205643 PMID:12210798 PMID:14568816 PMID:14623087 PMID:15639197 PMID:15887277 PMID:16263314 PMID:16908739 PMID:17073823 PMID:17452231 PMID:17576681 PMID:18205204 PMID:19103789 PMID:19265691 PMID:22622127 PMID:23043144 PMID:24321534 PMID:25131622 PMID:25741868 PMID:26874653 PMID:27324545 PMID:28492532 PMID:29137425 PMID:30366773 PMID:30589726 PMID:32482602 PMID:9175742 PMID:9536098


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