Epilepsies, Myoclonic Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D004831
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Genes

111 genes/proteins associated with the disease Epilepsies, Myoclonic from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
POMC proopiomelanocortin 2.88009
PMP22 peripheral myelin protein 22 2.88009
STXBP1 syntaxin binding protein 1 2.88009
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 2.88009
SCN1A sodium channel, voltage gated, type I alpha subunit 2.88009
FOS FBJ murine osteosarcoma viral oncogene homolog 1.8872
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 1.82516
BAX BCL2-associated X protein 1.6662
BDNF brain-derived neurotrophic factor 1.62335
CASP3 caspase 3, apoptosis-related cysteine peptidase 1.58514
EGR1 early growth response 1 1.53506
BCL2 B-cell CLL/lymphoma 2 1.53357
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 1.52413
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 1.48608
JUN jun proto-oncogene 1.45141
GAD1 glutamate decarboxylase 1 (brain, 67kDa) 1.42401
GSK3B glycogen synthase kinase 3 beta 1.38469
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 1.35647
CRH corticotropin releasing hormone 1.34372
DNAJB14 DnaJ (Hsp40) homolog, subfamily B, member 14 1.34285
TH tyrosine hydroxylase 1.33316
DRD1 dopamine receptor D1 1.32846
SLC22A7 solute carrier family 22 (organic anion transporter), member 7 1.32547
NOS2 nitric oxide synthase 2, inducible 1.30911
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 1.30421
SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2 1.28058
COMT catechol-O-methyltransferase 1.2639
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 1.26236
CCKBR cholecystokinin B receptor 1.25557
JUNB jun B proto-oncogene 1.2415
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 1.24024
CSNK2A1 casein kinase 2, alpha 1 polypeptide 1.23868
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 1.22632
TP53 tumor protein p53 1.22242
PENK proenkephalin 1.22242
CEBPB CCAAT/enhancer binding protein (C/EBP), beta 1.22145
NR1I2 nuclear receptor subfamily 1, group I, member 2 1.21206
DUSP1 dual specificity phosphatase 1 1.21206
IFNG interferon, gamma 1.20427
TNF tumor necrosis factor 1.2013
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 1.20064
PER1 period circadian clock 1 1.19966
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.19933
NPY neuropeptide Y 1.19113
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 1.18751
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 1.1862
SGK1 serum/glucocorticoid regulated kinase 1 1.17993
ALB albumin 1.17761
DRD2 dopamine receptor D2 1.17629
ADRA2A adrenoceptor alpha 2A 1.17067
IGFBP1 insulin-like growth factor binding protein 1 1.17034
HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 1.169
MAPK14 mitogen-activated protein kinase 14 1.16766
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 1.1607
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A 1.15256
ACHE acetylcholinesterase (Yt blood group) 1.14678
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme 1.14336
GFAP glial fibrillary acidic protein 1.14098
RORC RAR-related orphan receptor C 1.13895
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.13484
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 1.13075
CDC6 cell division cycle 6 1.12426
SOD2 superoxide dismutase 2, mitochondrial 1.12185
SLC22A1 solute carrier family 22 (organic cation transporter), member 1 1.11396
GOT1 glutamic-oxaloacetic transaminase 1, soluble 1.11186
MAPK3 mitogen-activated protein kinase 3 1.11081
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1.10803
MYC v-myc avian myelocytomatosis viral oncogene homolog 1.10734
BCL2L1 BCL2-like 1 1.10699
PRKACB protein kinase, cAMP-dependent, catalytic, beta 1.10424
GNAS GNAS complex locus 1.10175
MAPK1 mitogen-activated protein kinase 1 1.10175
PVALB parvalbumin 1.10175
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 1.1014
SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 1.09892
IL6 interleukin 6 1.09786
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 1.09646
AVP arginine vasopressin 1.09436
NR0B2 nuclear receptor subfamily 0, group B, member 2 1.09011
JUND jun D proto-oncogene 1.08478
FANCB Fanconi anemia, complementation group B 1.07804
ALDH1A1 aldehyde dehydrogenase 1 family, member A1 1.07625
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 1.07447
SOS2 son of sevenless homolog 2 (Drosophila) 1.07093
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 1.07057
CIDEA cell death-inducing DFFA-like effector a 1.07057
RAD51 RAD51 recombinase 1.07022
FAS Fas cell surface death receptor 1.06808
TAC1 tachykinin, precursor 1 1.06479
NR2F2 nuclear receptor subfamily 2, group F, member 2 1.05793
CXCL8 chemokine (C-X-C motif) ligand 8 1.05793
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 1.05793
DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15 1.05721
ANGPTL4 angiopoietin-like 4 1.04941
KLHL24 kelch-like family member 24 1.04904
CCND3 cyclin D3 1.04647
DBP D site of albumin promoter (albumin D-box) binding protein 1.04647
TRHR thyrotropin-releasing hormone receptor 1.04611
PRL prolactin 1.04501
GSTA2 glutathione S-transferase alpha 2 1.04389
TRH thyrotropin-releasing hormone 1.04389
MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase 1.03197
IL1B interleukin 1, beta 1.02783
EIF5 eukaryotic translation initiation factor 5 1.0241
RGS4 regulator of G-protein signaling 4 1.02151
SUV39H1 suppressor of variegation 3-9 homolog 1 (Drosophila) 1.02114
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 1.02077
TKT transketolase 1.0189
SDC4 syndecan 4 1.01587
CREB1 cAMP responsive element binding protein 1 1.01512
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2 1.01437