childhood absence epilepsy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. (Human Disease Ontology, DOID_1825)
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Genes

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

Symbol Name Standardized Value
CACNG4 calcium channel, voltage-dependent, gamma subunit 4 1.80111
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.22692
GRM2 glutamate receptor, metabotropic 2 1.16649
STIP1 stress-induced phosphoprotein 1 1.16136
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit 1.07824
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 1.07572
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2 1.07362
GPHN gephyrin 1.0109
GRM4 glutamate receptor, metabotropic 4 0.952856
DPYSL2 dihydropyrimidinase-like 2 0.94078
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7 0.849536
PRDX6 peroxiredoxin 6 0.806488
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 0.774114
LGI1 leucine-rich, glioma inactivated 1 0.770027
HSPA9 heat shock 70kDa protein 9 (mortalin) 0.764718
FSCN3 fascin actin-bundling protein 3, testicular 0.73746
FSCN2 fascin actin-bundling protein 2, retinal 0.709169
IVD isovaleryl-CoA dehydrogenase 0.70233
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 0.694702
GRM1 glutamate receptor, metabotropic 1 0.681894
CAV3 caveolin 3 0.633956
SV2A synaptic vesicle glycoprotein 2A 0.615529
GRM5 glutamate receptor, metabotropic 5 0.608885
FSCN1 fascin actin-bundling protein 1 0.607714
FOS FBJ murine osteosarcoma viral oncogene homolog 0.467684
LY6E lymphocyte antigen 6 complex, locus E 0.440914
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 0.425139
SYT1 synaptotagmin I 0.387051
MAOB monoamine oxidase B 0.38111
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 0.344941
CREB1 cAMP responsive element binding protein 1 0.296571
BDNF brain-derived neurotrophic factor 0.294772
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 0.251015
SARS seryl-tRNA synthetase 0.209918
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 0.173571
FBXO17 F-box protein 17 0.173057
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