juvenile absence epilepsy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. (Human Disease Ontology, DOID_0060172)
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Genes

20 genes co-occuring with the disease juvenile absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
EFHC1 EF-hand domain (C-terminal) containing 1 2.31225
CLCN2 chloride channel, voltage-sensitive 2 2.17706
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit 1.74824
CACNG3 calcium channel, voltage-dependent, gamma subunit 3 1.65025
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 1.5538
GRIK1 glutamate receptor, ionotropic, kainate 1 1.46627
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 1.39695
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 1.28785
GRIK2 glutamate receptor, ionotropic, kainate 2 1.28566
CHRNB3 cholinergic receptor, nicotinic, beta 3 (neuronal) 1.21912
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 1.17121
KCNK9 potassium channel, two pore domain subfamily K, member 9 1.10426
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit 0.912257
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 0.876148
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 0.720058
INHA inhibin, alpha 0.718443
SCN3A sodium channel, voltage gated, type III alpha subunit 0.67551
SCN8A sodium channel, voltage gated, type VIII alpha subunit 0.61866
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 0.412779
POMC proopiomelanocortin 0.203933