epilepsy syndrome Gene Set

Dataset DISEASES Experimental Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. (Human Disease Ontology, DOID_1826)
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Genes

13 genes associated with the disease epilepsy syndrome in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
VRK2 vaccinia related kinase 2 0.602429
NFE2L1 nuclear factor, erythroid 2-like 1 0.5306
CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2 0.52461
CHRM3 cholinergic receptor, muscarinic 3 0.449873
ELOVL4 ELOVL fatty acid elongase 4 0.345945
MAST4 microtubule associated serine/threonine kinase family member 4 0.345945
C1ORF94 chromosome 1 open reading frame 94 0.297866
ADCY9 adenylate cyclase 9 0.256228
ADGRL3 adhesion G protein-coupled receptor L3 0.15771
SCN1A sodium channel, voltage gated, type I alpha subunit 0.126165
ZNF385D zinc finger protein 385D 0.100789
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) 0.043246
PTPRD protein tyrosine phosphatase, receptor type, D 0.043246
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