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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking 1700088E04Rik and Emery-Dreifuss muscular dystrophy in Mus musculus.        

  • 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 C22orf23 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 138 RGD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 4 papers in RGD have been used to annotate 1700088E04Rik
  • Curation Notes: ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
  • Original References(s): PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532


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