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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ak1 and early infantile epileptic encephalopathy in Ictidomys tridecemlineatus.        

  • 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 AK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 857 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 0 papers in RGD have been used to annotate Ak1
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935


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