generalized epilepsy with febrile seizures plus Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. (Human Disease Ontology, DOID_0060170)
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Genes

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

Symbol Name Standardized Value
SCN1A sodium channel, voltage gated, type I alpha subunit 3.04701
SCN1B sodium channel, voltage gated, type I beta subunit 2.68852
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 2.49964
SCN3A sodium channel, voltage gated, type III alpha subunit 2.39847
SCN8A sodium channel, voltage gated, type VIII alpha subunit 2.3959
SCN2A sodium channel, voltage gated, type II alpha subunit 1.79165
GABRD gamma-aminobutyric acid (GABA) A receptor, delta 1.55158
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 1.52908
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3 1.52644
SCN4A sodium channel, voltage gated, type IV alpha subunit 1.50228
ME2 malic enzyme 2, NAD(+)-dependent, mitochondrial 1.41621
EFHC1 EF-hand domain (C-terminal) containing 1 1.27388
TAAR5 trace amine associated receptor 5 1.26037
ADGRV1 adhesion G protein-coupled receptor V1 1.16649
MTMR7 myotubularin related protein 7 1.15666
PTPRB protein tyrosine phosphatase, receptor type, B 1.0753
MTMR9 myotubularin related protein 9 1.0732
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 1.0463
STX7 syntaxin 7 1.03409
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) 1.0324
NFASC neurofascin 1.00752
ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 0.991909
SGCZ sarcoglycan, zeta 0.985164
BRD2 bromodomain containing 2 0.984743
LGI1 leucine-rich, glioma inactivated 1 0.898282
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 0.897872
SCN2B sodium channel, voltage gated, type II beta subunit 0.838476
NFU1 NFU1 iron-sulfur cluster scaffold 0.815104
PCDH19 protocadherin 19 0.669936
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 0.656046
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit 0.585887
CLCN2 chloride channel, voltage-sensitive 2 0.571495
PRRT2 proline-rich transmembrane protein 2 0.548583
ARX aristaless related homeobox 0.520731
SCN9A sodium channel, voltage gated, type IX alpha subunit 0.49274
ANKH ANKH inorganic pyrophosphate transport regulator 0.474498
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 0.436402
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1 0.360764
WARS tryptophanyl-tRNA synthetase 0.347144
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 0.332487
SARS seryl-tRNA synthetase 0.320454
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 0.304503
TNC tenascin C 0.288668
FBXO17 F-box protein 17 0.27687