Infantile Spasm Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C3887898
Similar Terms
Downloads & Tools

Genes

90 genes associated with the disease Infantile Spasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
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
ARX aristaless related homeobox
ATG10 autophagy related 10
ATXN2 ataxin 2
BTD biotinidase
C5 complement component 5
C5AR1 complement component 5a receptor 1
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDKL5 cyclin-dependent kinase-like 5
CRH corticotropin releasing hormone
CRHR1 corticotropin releasing hormone receptor 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DCX doublecortin
DLX5 distal-less homeobox 5
DNM1 dynamin 1
DPYS dihydropyrimidinase
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBN1 fibrillin 1
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
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
HDAC4 histone deacetylase 4
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IGF1 insulin-like growth factor 1 (somatomedin C)
IRF2BPL interferon regulatory factor 2 binding protein-like
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KDM2B lysine (K)-specific demethylase 2B
KIF1A kinesin family member 1A
KPNA7 karyopherin alpha 7 (importin alpha 8)
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
MLLT1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
ND1
NDP Norrie disease (pseudoglioma)
NGF nerve growth factor (beta polypeptide)
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative)
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PNPO pyridoxamine 5'-phosphate oxidase
POMC proopiomelanocortin
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PTEN phosphatase and tensin homolog
RALGAPB Ral GTPase activating protein, beta subunit (non-catalytic)
RARS2 arginyl-tRNA synthetase 2, mitochondrial
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SIK1 salt-inducible kinase 1
SKI SKI proto-oncogene
SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4
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
SPATA5 spermatogenesis associated 5
SPTAN1 spectrin, alpha, non-erythrocytic 1
STX7 syntaxin 7
STXBP1 syntaxin binding protein 1
TBC1D24 TBC1 domain family, member 24
TCOF1 Treacher Collins-Franceschetti syndrome 1
TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TWIST1 twist family bHLH transcription factor 1
WDR45 WD repeat domain 45
WDR62 WD repeat domain 62
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma