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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Scn2a and West syndrome 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 SCN2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 37 RGD objects have been annotated to West syndrome  (DOID:0050562)
  • 5 papers in RGD have been used to annotate Scn2a
  • Curation Notes: ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome
  • Original References(s): PMID:18414213 PMID:19786696 PMID:20956790 PMID:23550958 PMID:23708187 PMID:23934111 PMID:23935176 PMID:25326635 PMID:25326637 PMID:25459969 PMID:25741868 PMID:25772804 PMID:26283219 PMID:26291284 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27334371 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28256214 PMID:28379373 PMID:28492532 PMID:28628100 PMID:28708303 PMID:28947817 PMID:29186148 PMID:29655203 PMID:29844171 PMID:30185235 PMID:30361185 PMID:30776697 PMID:30813884 PMID:30928199 PMID:31054490 PMID:31175295 PMID:31332282 PMID:31558572 PMID:31785789 PMID:31957018 PMID:31981491 PMID:31995133 PMID:32090326 PMID:32139178 PMID:32400968 PMID:32488064 PMID:32613771 PMID:32651551 PMID:32860008 PMID:33084218 PMID:33818783 PMID:34469436


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