Infantile Severe Myoclonic Epilepsy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0751122
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Genes

60 genes associated with the disease Infantile Severe Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACHE acetylcholinesterase (Yt blood group)
ADRA1D adrenoceptor alpha 1D
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ARX aristaless related homeobox
B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CDKL5 cyclin-dependent kinase-like 5
CHD2 chromodomain helicase DNA binding protein 2
CPLX1 complexin 1
CSTB cystatin B (stefin B)
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
E2F1 E2F transcription factor 1
EPHA5 EPH receptor A5
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
FOXG1 forkhead box G1
FOXM1 forkhead box M1
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GPHN gephyrin
GPR55 G protein-coupled receptor 55
IGF1 insulin-like growth factor 1 (somatomedin C)
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
LOC101060233 medium-wave-sensitive opsin 1
MECP2 methyl CpG binding protein 2
MTOR mechanistic target of rapamycin (serine/threonine kinase)
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2
PCDH19 protocadherin 19
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
PRRT2 proline-rich transmembrane protein 2
PVALB parvalbumin
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RPS19 ribosomal protein S19
SAMD12 sterile alpha motif domain containing 12
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN2B sodium channel, voltage gated, type II beta subunit
SCN7A sodium channel, voltage gated, type VII alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SST somatostatin
STXBP1 syntaxin binding protein 1
TLR1 toll-like receptor 1
TNRC6A trinucleotide repeat containing 6A
TSPYL4 TSPY-like 4
VIP vasoactive intestinal peptide