eeg with generalized epileptiform discharges Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. (Human Phenotype Ontology, HP_0011198)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011198
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Genes

31 genes associated with the eeg with generalized epileptiform discharges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ALG3 ALG3, alpha-1,3- mannosyltransferase
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARX aristaless related homeobox
ASNS asparagine synthetase (glutamine-hydrolyzing)
CDKL5 cyclin-dependent kinase-like 5
DOCK7 dedicator of cytokinesis 7
DOLK dolichol kinase
ERMARD ER membrane-associated RNA degradation
GCK glucokinase (hexokinase 4)
GLYCTK glycerate kinase
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
HCFC1 host cell factor C1
IER3IP1 immediate early response 3 interacting protein 1
INS insulin
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KIAA2022 KIAA2022
MED17 mediator complex subunit 17
NF1 neurofibromin 1
PHGDH phosphoglycerate dehydrogenase
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
ROGDI rogdi homolog (Drosophila)
SETBP1 SET binding protein 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SPTAN1 spectrin, alpha, non-erythrocytic 1
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
STXBP1 syntaxin binding protein 1
TUBB2A tubulin, beta 2A class IIa
UPB1 ureidopropionase, beta