West Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0037769
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Genes

143 genes associated with the disease West Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AARS1 alanyl-tRNA synthetase 1
ABAT 4-aminobutyrate aminotransferase
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ACTB actin, beta
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
APC adenomatous polyposis coli
ARC activity-regulated cytoskeleton-associated protein
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARX aristaless related homeobox
ATG10 autophagy related 10
ATXN2 ataxin 2
BRWD3 bromodomain and WD repeat domain containing 3
BTD biotinidase
C5 complement component 5
C5AR1 complement component 5a receptor 1
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDKL5 cyclin-dependent kinase-like 5
CFL1 cofilin 1 (non-muscle)
CHD2 chromodomain helicase DNA binding protein 2
CLCN4 chloride channel, voltage-sensitive 4
CNPY3 canopy FGF signaling regulator 3
CRH corticotropin releasing hormone
CRHR1 corticotropin releasing hormone receptor 1
CSNK1E casein kinase 1, epsilon
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DCX doublecortin
DEPDC5 DEP domain containing 5
DLG3 discs, large homolog 3 (Drosophila)
DLX5 distal-less homeobox 5
DNM1 dynamin 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DPYS dihydropyrimidinase
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBN1 fibrillin 1
FGF12 fibroblast growth factor 12
FLNA filamin A, alpha
FOXG1 forkhead box G1
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GUF1 GUF1 GTPase homolog (S. cerevisiae)
HDAC4 histone deacetylase 4
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IL2RG interleukin 2 receptor, gamma
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNT1 potassium channel, sodium activated subfamily T, member 1
KCNT2 potassium channel, sodium activated subfamily T, member 2
KIF1A kinesin family member 1A
KPNA7 karyopherin alpha 7 (importin alpha 8)
LAMA2 laminin, alpha 2
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2
MBD5 methyl-CpG binding domain protein 5
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MC4R melanocortin 4 receptor
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
MGC57346-CRHR1 MGC57346-CRHR1 readthrough
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)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
ND1
NDP Norrie disease (pseudoglioma)
NEUROD2 neuronal differentiation 2
NGF nerve growth factor (beta polypeptide)
NGLY1 N-glycanase 1
NR2F1 nuclear receptor subfamily 2, group F, member 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative)
PDCD6IP programmed cell death 6 interacting protein
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PHACTR1 phosphatase and actin regulator 1
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PMM2 phosphomannomutase 2
PNKP polynucleotide kinase 3'-phosphatase
PNPO pyridoxamine 5'-phosphate oxidase
POMC proopiomelanocortin
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PRRT2 proline-rich transmembrane protein 2
PTCH1 patched 1
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1
RFT1 RFT1 homolog (S. cerevisiae)
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN3A sodium channel, voltage gated, type III alpha subunit
SIK1 salt-inducible kinase 1
SKI SKI proto-oncogene
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SORCS3 sortilin-related VPS10 domain containing receptor 3
SOS1 son of sevenless homolog 1 (Drosophila)
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTBN2 spectrin, beta, non-erythrocytic 2
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
STXBP1 syntaxin binding protein 1
TBC1D24 TBC1 domain family, member 24
TBCD tubulin folding cofactor D
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)
TLK2 tousled-like kinase 2
TRIM8 tripartite motif containing 8
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TUBA8 tubulin, alpha 8
TWIST1 twist family bHLH transcription factor 1
UBA5 ubiquitin-like modifier activating enzyme 5
UPB1 ureidopropionase, beta
WDR45 WD repeat domain 45
WDR62 WD repeat domain 62
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ZNHIT3 zinc finger, HIT-type containing 3