Early Infantile Epileptic Encephalopathy With Suppression Bursts Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0393706
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Genes

73 genes associated with the disease Early Infantile Epileptic Encephalopathy With Suppression Bursts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
ARX aristaless related homeobox
BRAT1 BRCA1-associated ATM activator 1
CALN1 calneuron 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CD276 CD276 molecule
CDKL5 cyclin-dependent kinase-like 5
CTCF CCCTC-binding factor (zinc finger protein)
DMXL2 Dmx-like 2
DNM1 dynamin 1
EGFR epidermal growth factor receptor
EPHB2 EPH receptor B2
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
F3 coagulation factor III (thromboplastin, tissue factor)
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GPC3 glypican 3
HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6
HK2 hexokinase 2
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
IBSP integrin-binding sialoprotein
IGF2 insulin-like growth factor 2
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
JAK2 Janus kinase 2
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNT1 potassium channel, sodium activated subfamily T, member 1
KEAP1 kelch-like ECH-associated protein 1
KLK3 kallikrein-related peptidase 3
MAPK1 mitogen-activated protein kinase 1
MGMT O-6-methylguanine-DNA methyltransferase
MID1 midline 1
MMP9 matrix metallopeptidase 9
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTX1 metaxin 1
MYC v-myc avian myelocytomatosis viral oncogene homolog
NEUROD2 neuronal differentiation 2
NFE2L2 nuclear factor, erythroid 2-like 2
NPEPPS aminopeptidase puromycin sensitive
PIF1 PIF1 5'-to-3' DNA helicase
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLAG1 pleiomorphic adenoma gene 1
PNKP polynucleotide kinase 3'-phosphatase
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PROS1 protein S (alpha)
PSAT1 phosphoserine aminotransferase 1
RAG1 recombination activating gene 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SHC3 SHC (Src homology 2 domain containing) transforming protein 3
SIK1 salt-inducible kinase 1
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOX18 SRY (sex determining region Y)-box 18
STXBP1 syntaxin binding protein 1
TMEM189 transmembrane protein 189
TMEM189-UBE2V1 TMEM189-UBE2V1 readthrough
TOPBP1 topoisomerase (DNA) II binding protein 1
TP53 tumor protein p53
TRIM8 tripartite motif containing 8
UBE2V1 ubiquitin-conjugating enzyme E2 variant 1