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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ciz1 and developmental and epileptic encephalopathy 31A 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 CIZ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 43 RGD objects have been annotated to developmental and epileptic encephalopathy 31A  (DOID:0080437)
  • 6 papers in RGD have been used to annotate Ciz1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31
  • Original References(s): PMID:10608808 PMID:11031245 PMID:11553700 PMID:18469812 PMID:19084268 PMID:20887364 PMID:22722545 PMID:23977156 PMID:25741868 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26611353 PMID:26865513 PMID:28492532 PMID:28554332 PMID:28667181 PMID:29264391 PMID:29668686 PMID:34172529 PMID:34386584 PMID:8335685


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