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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cacna1e and developmental and epileptic encephalopathy 69 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 CACNA1E (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 69  (DOID:0112205)
  • 19 papers in RGD have been used to annotate Cacna1e


    • An association has been curated linking Cacna1e and developmental and epileptic encephalopathy 69 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 CACNA1E (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 69  (DOID:0112205)
  • 19 papers in RGD have been used to annotate Cacna1e
  • Curation Notes: ClinVar Annotator: match by term: CACNA1E-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 69 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
  • Original References(s): PMID:16199547 PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 PMID:30343943 PMID:32695065 PMID:33776624 PMID:34702355 PMID:34906502 PMID:35937981


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