Generalized Myoclonic Seizures Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). (Human Phenotype Ontology, HP_0002123)
External Link https://www.disgenet.org/browser/0/1/0/C4021759
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Genes

92 genes associated with the disease Generalized Myoclonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ADGRV1 adhesion G protein-coupled receptor V1
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
AP3D1 adaptor-related protein complex 3, delta 1 subunit
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
BRAT1 BRCA1-associated ATM activator 1
BTD biotinidase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CARS2 cysteinyl-tRNA synthetase 2, mitochondrial (putative)
CDKL5 cyclin-dependent kinase-like 5
CHD2 chromodomain helicase DNA binding protein 2
CPLX1 complexin 1
CUX2 cut-like homeobox 2
DHDDS dehydrodolichyl diphosphate synthase
DNM1 dynamin 1
DNM1L dynamin 1-like
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
EFHC1 EF-hand domain (C-terminal) containing 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
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
GAMT guanidinoacetate N-methyltransferase
GBA glucosidase, beta, acid
GCK glucokinase (hexokinase 4)
GLB1 galactosidase, beta 1
GRN granulin
HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
ICK intestinal cell (MAK-like) kinase
IER3IP1 immediate early response 3 interacting protein 1
INS insulin
KCNC1 potassium channel, voltage gated Shaw related subfamily C, member 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNT2 potassium channel, sodium activated subfamily T, member 2
KCTD7 potassium channel tetramerization domain containing 7
KIAA2022 KIAA2022
LNPK lunapark, ER junction formation factor
MAPK10 mitogen-activated protein kinase 10
MBOAT7 membrane bound O-acyltransferase domain containing 7
MFSD8 major facilitator superfamily domain containing 8
MT-ATP6 ATP synthase F0 subunit 6
MT-ND2 MTND2
MT-ND3 NADH dehydrogenase, subunit 3 (complex I)
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
ND1
NDE1 nudE neurodevelopment protein 1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NGLY1 N-glycanase 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
PCDH12 protocadherin 12
PCDH19 protocadherin 19
PDX1 pancreatic and duodenal homeobox 1
PHGDH phosphoglycerate dehydrogenase
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PLAGL1 pleiomorphic adenoma gene-like 1
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRDM8 PR domain containing 8
PRICKLE1 prickle homolog 1 (Drosophila)
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
SCN9A sodium channel, voltage gated, type IX alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SIK1 salt-inducible kinase 1
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SMS spermine synthase
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STX1B syntaxin 1B
STXBP1 syntaxin binding protein 1
TBC1D24 TBC1 domain family, member 24
TK2 thymidine kinase 2, mitochondrial
TRAPPC9 trafficking protein particle complex 9
TRIT1 tRNA isopentenyltransferase 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZFP57 ZFP57 zinc finger protein