Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 6323
  • Symbol: SCN1A
  • Description: sodium voltage-gated channel alpha subunit 1

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Disease_Term Source Rank Other Values
Migraine, familial hemiplegic, 3, 609634 (3) OMIM high
  • Genome region : 2q24.3
  • OMIM_ID : 182389 OMIM gene ID
  • OMIM_ID : 609634 OMIM phenotype ID
Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3) OMIM high
  • Genome region : 2q24.3
  • OMIM_ID : 182389 OMIM gene ID
  • OMIM_ID : 604403 OMIM phenotype ID
Epileptic encephalopathy, early infantile, 6, 607208 (3) OMIM high
  • Genome region : 2q24.3
  • OMIM_ID : 182389 OMIM gene ID
  • OMIM_ID : 607208 OMIM phenotype ID
Febrile seizures, familial, 3A, 604403 (3) OMIM high
  • Genome region : 2q24.3
  • OMIM_ID : 182389 OMIM gene ID
  • OMIM_ID : 604403 OMIM phenotype ID
{Dravet syndrome, modifier of}, 607208 (3) OMIM low
  • Genome region : 2q24.3
  • OMIM_ID : 603415 OMIM gene ID
  • OMIM_ID : 607208 OMIM phenotype ID
Febrile seizures GWAS high
Mesial temporal lobe epilepsy with hippocampal sclerosis GWAS high
Epilepsy (generalized) GWAS high
Febrile seizures (MMR vaccine-related) GWAS high
Febrile seizures (MMR vaccine-unrelated) GWAS high
Epilepsy GWAS high