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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Fanci and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 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 FANCI (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  (DOID:0111276)
  • 9 papers in RGD have been used to annotate Fanci
  • Curation Notes: ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
  • Original References(s): PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971


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