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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Twnk and mitochondrial DNA depletion syndrome 7 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 TWNK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to mitochondrial DNA depletion syndrome 7  (DOID:0080126)
  • 9 papers in RGD have been used to annotate Twnk


  • An association has been curated linking Twnk and mitochondrial DNA depletion syndrome 7 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 TWNK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to mitochondrial DNA depletion syndrome 7  (DOID:0080126)
  • 9 papers in RGD have been used to annotate Twnk
  • Curation Notes: ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: mitochondrial hepatopathy
  • Original References(s): PMID:12872260 PMID:16135556 PMID:17614277 PMID:17722119 PMID:17921179 PMID:20479361 PMID:20659899 PMID:21689831 PMID:22353293 PMID:22928142 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:27650058 PMID:28492532 PMID:28812649 PMID:29458409 PMID:31055809


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