Spasms Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C4552072
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Genes

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

Symbol Name
ACTB actin, beta
ARHGEF15 Rho guanine nucleotide exchange factor (GEF) 15
ARX aristaless related homeobox
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
BRAT1 BRCA1-associated ATM activator 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CAMK2G calcium/calmodulin-dependent protein kinase II gamma
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CCDC88A coiled-coil domain containing 88A
CDKL5 cyclin-dependent kinase-like 5
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CYFIP2 cytoplasmic FMR1 interacting protein 2
DLG3 discs, large homolog 3 (Drosophila)
DMXL2 Dmx-like 2
DNM1 dynamin 1
ERBB4 erb-b2 receptor tyrosine kinase 4
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
KCNAB1 potassium channel, voltage gated subfamily A regulatory beta subunit 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNT1 potassium channel, sodium activated subfamily T, member 1
KLHL17 kelch-like family member 17
LIPT1 lipoyltransferase 1
NECAP1 NECAP endocytosis associated 1
NEUROD2 neuronal differentiation 2
NSF N-ethylmaleimide-sensitive factor
PCDH19 protocadherin 19
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
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
SCN3A sodium channel, voltage gated, type III alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SIK1 salt-inducible kinase 1
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SPTAN1 spectrin, alpha, non-erythrocytic 1
SRGAP2 SLIT-ROBO Rho GTPase activating protein 2
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3
STXBP1 syntaxin binding protein 1
TBC1D24 TBC1 domain family, member 24
TRIO trio Rho guanine nucleotide exchange factor
UBA5 ubiquitin-like modifier activating enzyme 5
WWOX WW domain containing oxidoreductase
ZEB2 zinc finger E-box binding homeobox 2
ZNHIT3 zinc finger, HIT-type containing 3