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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Snapc4 and developmental and epileptic encephalopathy 14 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 SNAPC4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 125 RGD objects have been annotated to developmental and epileptic encephalopathy 14  (DOID:0080439)
  • 10 papers in RGD have been used to annotate Snapc4
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
  • Original References(s): PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532


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