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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Scn1a and Developmental Disabilities 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 SCN1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 774 RGD objects have been annotated to Developmental Disabilities  (DOID:9008086)
  • 18 papers in RGD have been used to annotate Scn1a
  • Curation Notes: ClinVar Annotator: match by term: Global developmental delay
  • Original References(s): PMID:12566275 PMID:16199547 PMID:17347258 PMID:18930999 PMID:19563458 PMID:20452746 PMID:20522430 PMID:22071555 PMID:22409937 PMID:22848613 PMID:23895530 PMID:23934111 PMID:24656210 PMID:25401298 PMID:25741868 PMID:28012175 PMID:28148630 PMID:28492532 PMID:28794249 PMID:29190809 PMID:31791873 PMID:32581362


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