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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cilk1 and idiopathic generalized epilepsy 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 CILK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 252 RGD objects have been annotated to idiopathic generalized epilepsy  (DOID:1827)
  • 8 papers in RGD have been used to annotate Cilk1
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy
  • Original References(s): PMID:28492532 PMID:29539279


    • An association has been curated linking Cilk1 and idiopathic generalized epilepsy 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 CILK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 252 RGD objects have been annotated to idiopathic generalized epilepsy  (DOID:1827)
  • 8 papers in RGD have been used to annotate Cilk1
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29539279 PMID:32178256


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