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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Scn5a and Long QT Syndrome 3/6 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 SCN5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Long QT Syndrome 3/6  (DOID:9002643)
  • 16 papers in RGD have been used to annotate Scn5a
  • Curation Notes: ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic
  • Original References(s): PMID:10200053 PMID:10508990 PMID:10618304 PMID:10772658 PMID:10973849 PMID:12574983 PMID:15051636 PMID:15184283 PMID:15621041 PMID:15670972 PMID:16922724 PMID:19167409 PMID:19716085 PMID:19841300 PMID:19863579 PMID:20090423 PMID:20129283 PMID:22360817 PMID:22581653 PMID:24218437 PMID:25904541 PMID:28492532 PMID:9495298 PMID:9506831


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