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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CACNA1A and Generalized Epilepsy in Sus scrofa.        

  • 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 CACNA1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 381 RGD objects have been annotated to Generalized Epilepsy  (DOID:9001793)
  • 0 papers in RGD have been used to annotate CACNA1A
  • Curation Notes: ClinVar Annotator: match by term: Epileptic encephalopathy
  • Original References(s): PMID:10371528 PMID:12420090 PMID:19486177 PMID:20129625 PMID:20396531 PMID:25735478 PMID:25741868 PMID:26467025 PMID:27250579 PMID:28492532 PMID:28566750 PMID:32581362 PMID:33425808 PMID:35837781


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