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GENE - TERM ANNOTATION REPORT

RGD ID: 737151
Species: Homo sapiens
RGD Object: Gene
Symbol: SCN9A
Name: sodium voltage-gated channel alpha subunit 9
Acc ID: DOID:0060170
Term: generalized epilepsy with febrile seizures plus
Definition: An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22011963 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
SCN9A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plusPMID:28492532
SCN9A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 
SCN9A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plusPMID:25741868
SCN9A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plusPMID:20478850 PMID:25741868 PMID:28492532 PMID:29358611
SCN9A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plusPMID:21698661 PMID:25741868 PMID:26467025 PMID:28492532
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