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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SYNGAP1 and developmental and epileptic encephalopathy 11 in Canis lupus familiaris.        

  • 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 SYNGAP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 30 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 0 papers in RGD have been used to annotate SYNGAP1
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:25326635 PMID:25741868 PMID:26989088 PMID:28492532 PMID:28708303 PMID:29778030 PMID:30541864 PMID:31395010 PMID:31440721 PMID:31572294 PMID:33308442 PMID:34948243 PMID:35814954 PMID:37149717


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