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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Eif2b5 and hypomyelinating leukodystrophy 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 EIF2B5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 66 RGD objects have been annotated to hypomyelinating leukodystrophy  (DOID:0060786)
  • 30 papers in RGD have been used to annotate Eif2b5
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy
  • Original References(s): PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 PMID:25741868 PMID:25761052 PMID:28492532 PMID:30755392 PMID:33432707


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