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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Rapgef2 and familial adult myoclonic epilepsy 7 in Mus musculus.        

  • 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 RAPGEF2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to familial adult myoclonic epilepsy 7  (DOID:0111694)
  • 8 papers in RGD have been used to annotate Rapgef2


  • An association has been curated linking Rapgef2 and familial adult myoclonic epilepsy 7 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 RAPGEF2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to familial adult myoclonic epilepsy 7  (DOID:0111694)
  • 8 papers in RGD have been used to annotate Rapgef2
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7
  • Original References(s): PMID:25741868


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