epilepsy with generalized tonic-clonic seizures Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. (Human Disease Ontology, DOID_7725)
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Genes

23 genes co-occuring with the disease epilepsy with generalized tonic-clonic seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
PAQR8 progestin and adipoQ receptor family member VIII 1.66195
SCN1A sodium channel, voltage gated, type I alpha subunit 1.64487
EFHC1 EF-hand domain (C-terminal) containing 1 1.49526
SCN8A sodium channel, voltage gated, type VIII alpha subunit 1.34548
NFU1 NFU1 iron-sulfur cluster scaffold 1.24385
SCN3A sodium channel, voltage gated, type III alpha subunit 1.23863
CHRNB3 cholinergic receptor, nicotinic, beta 3 (neuronal) 1.13543
CSTB cystatin B (stefin B) 1.0442
STX8 syntaxin 8 0.951604
PSAP prosaposin 0.805667
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 0.802795
ADGRV1 adhesion G protein-coupled receptor V1 0.793771
CDKL5 cyclin-dependent kinase-like 5 0.792951
MEF2C myocyte enhancer factor 2C 0.70434
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 0.693499
NCR3 natural cytotoxicity triggering receptor 3 0.681495
GP1BA glycoprotein Ib (platelet), alpha polypeptide 0.671527
WWOX WW domain containing oxidoreductase 0.668742
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 0.663975
GALC galactosylceramidase 0.517649
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 0.491978
SCN2A sodium channel, voltage gated, type II alpha subunit 0.47374
CP ceruloplasmin (ferroxidase) 0.174354
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