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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Cacna2d2 and early infantile epileptic encephalopathy 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 CACNA2D2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 939 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 11 papers in RGD have been used to annotate Cacna2d2
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 PMID:31785789 PMID:33798445 PMID:9536098


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