Salaam Seizures Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1527366
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Genes

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

Symbol Name
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ANKRD11 ankyrin repeat domain 11
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
C12ORF4 chromosome 12 open reading frame 4
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CAPN2 calpain 2, (m/II) large subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D1A coiled-coil and C2 domain containing 1A
CDKL5 cyclin-dependent kinase-like 5
CLIP1 CAP-GLY domain containing linker protein 1
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CRBN cereblon
CRH corticotropin releasing hormone
CRHR1 corticotropin releasing hormone receptor 1
DCPS decapping enzyme, scavenger
EDC3 enhancer of mRNA decapping 3
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EZR ezrin
FBXO31 F-box protein 31
FMN2 formin 2
FRRS1L ferric-chelate reductase 1-like
GNB5 guanine nucleotide binding protein (G protein), beta 5
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
HNMT histamine N-methyltransferase
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KDM5B lysine (K)-specific demethylase 5B
LGI1 leucine-rich, glioma inactivated 1
LINS lines homolog (Drosophila)
LMAN2L lectin, mannose-binding 2-like
MAN1B1 mannosidase, alpha, class 1B, member 1
MBOAT7 membrane bound O-acyltransferase domain containing 7
MECP2 methyl CpG binding protein 2
MED23 mediator complex subunit 23
MED25 mediator complex subunit 25
METTL23 methyltransferase like 23
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PGAP1 post-GPI attachment to proteins 1
PHGDH phosphoglycerate dehydrogenase
PIGC phosphatidylinositol glycan anchor biosynthesis, class C
POMC proopiomelanocortin
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PRRT2 proline-rich transmembrane protein 2
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PSAT1 phosphoserine aminotransferase 1
RSRC1 arginine/serine-rich coiled-coil 1
SARS1 seryl-tRNA synthetase 1
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SETBP1 SET binding protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC45A1 solute carrier family 45, member 1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ST20-MTHFS ST20-MTHFS readthrough
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
STXBP1 syntaxin binding protein 1
TECR trans-2,3-enoyl-CoA reductase
TNIK TRAF2 and NCK interacting kinase
TRAPPC9 trafficking protein particle complex 9
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TUSC3 tumor suppressor candidate 3
UPB1 ureidopropionase, beta
WARS2 tryptophanyl tRNA synthetase 2, mitochondrial
WASHC4 WASH complex subunit 4
WDR45 WD repeat domain 45
WWOX WW domain containing oxidoreductase
ZC3H14 zinc finger CCCH-type containing 14
ZNF292 zinc finger protein 292