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GENE - TERM ANNOTATION REPORT

RGD ID: 1603692
Species: Homo sapiens
RGD Object: Gene
Symbol: SZT2
Name: SZT2 subunit of KICSTOR complex
Acc ID: HP:0001250
Term: Seizure
Definition: A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:15816939
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)
SZT2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Seizure

PMID:25741868 PMID:28492532 PMID:30564332 PMID:30755392 PMID:35773235
SZT2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Seizures

PMID:25741868 PMID:28492532
SZT2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Seizure

PMID:25741868 PMID:28492532
SZT2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Seizure

PMID:25741868 PMID:28492532
SZT2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Seizures

PMID:25741868
SZT2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Seizure

PMID:25741868 PMID:28492532
SZT2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Seizures

PMID:25741868
SZT2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Seizure

PMID:25741868 PMID:28492532
SZT2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Seizure

PMID:25741868 PMID:28492532
SZT2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Seizures

 
SZT2 IAGP 8699517HPO ORPHA:442835
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