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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Scn8a and Familial Myoclonus 2 in Rattus norvegicus.        

  • 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 SCN8A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Familial Myoclonus 2  (DOID:9003930)
  • 19 papers in RGD have been used to annotate Scn8a


    • An association has been curated linking Scn8a and Familial Myoclonus 2 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 SCN8A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Familial Myoclonus 2  (DOID:9003930)
  • 19 papers in RGD have been used to annotate Scn8a
  • Curation Notes: ClinVar Annotator: match by term: Myoclonus, familial, 2
  • Original References(s): PMID:24888894 PMID:25568300 PMID:25741868 PMID:25951352 PMID:26029160 PMID:26467025 PMID:26647175 PMID:26900580 PMID:27779742 PMID:27875746 PMID:28387369 PMID:28492532 PMID:29726066 PMID:30951195 PMID:31715021


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