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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mpv17 and mitochondrial DNA depletion syndrome 6 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 MPV17 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to mitochondrial DNA depletion syndrome 6  (DOID:0080125)
  • 5 papers in RGD have been used to annotate Mpv17


  • An association has been curated linking Mpv17 and mitochondrial DNA depletion syndrome 6 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 MPV17 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to mitochondrial DNA depletion syndrome 6  (DOID:0080125)
  • 5 papers in RGD have been used to annotate Mpv17
  • Curation Notes: ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Navajo neurohepatopathy
  • Original References(s): PMID:16199547 PMID:16582910 PMID:16909392 PMID:17694548 PMID:18261905 PMID:18695062 PMID:19012992 PMID:19520594 PMID:20074988 PMID:22508010 PMID:22964873 PMID:23714749 PMID:23829229 PMID:24190800 PMID:25016221 PMID:25129007 PMID:25741868 PMID:25861990 PMID:26437932 PMID:26467025 PMID:26741492 PMID:27536553 PMID:27848944 PMID:28207748 PMID:28209105 PMID:28492532 PMID:28673863 PMID:29282788 PMID:30273399 PMID:30298599 PMID:30833296 PMID:31319225 PMID:31673878 PMID:32703289 PMID:33258288


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