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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Fbxl4 and mitochondrial DNA depletion syndrome 13 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 FBXL4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 13  (DOID:0080131)
  • 5 papers in RGD have been used to annotate Fbxl4


  • An association has been curated linking Fbxl4 and mitochondrial DNA depletion syndrome 13 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 FBXL4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 13  (DOID:0080131)
  • 5 papers in RGD have been used to annotate Fbxl4
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
  • Original References(s): PMID:23993193 PMID:23993194 PMID:24033266 PMID:24088041 PMID:25326635 PMID:25558065 PMID:25741868 PMID:25868664 PMID:26633545 PMID:27099744 PMID:27182039 PMID:27182309 PMID:27290639 PMID:27743463 PMID:27858371 PMID:28492532 PMID:28940506 PMID:31474762 PMID:32348839 PMID:32576985


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