Cortical Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description The presence of developmental dysplasia of the cerebral cortex. (Human Phenotype Ontology, HP_0002539)
External Link https://www.disgenet.org/browser/0/1/0/C0431380
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Genes

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

Symbol Name
ADGRG1 adhesion G protein-coupled receptor G1
ADGRV1 adhesion G protein-coupled receptor V1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
AQP4 aquaporin 4
ARHGAP31 Rho GTPase activating protein 31
ASNS asparagine synthetase (glutamine-hydrolyzing)
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
C12ORF4 chromosome 12 open reading frame 4
CC2D1A coiled-coil and C2 domain containing 1A
CLIP1 CAP-GLY domain containing linker protein 1
CNTNAP2 contactin associated protein-like 2
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CRBN cereblon
CUX2 cut-like homeobox 2
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCPS decapping enzyme, scavenger
DCX doublecortin
DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
DEPDC5 DEP domain containing 5
DLG4 discs, large homolog 4 (Drosophila)
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EDC3 enhancer of mRNA decapping 3
EMX2 empty spiracles homeobox 2
EZR ezrin
FAM20C family with sequence similarity 20, member C
FBXO31 F-box protein 31
FGFR1 fibroblast growth factor receptor 1
FMN2 formin 2
FOXC1 forkhead box C1
FRRS1L ferric-chelate reductase 1-like
FZD2 frizzled class receptor 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GAP43 growth associated protein 43
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HNMT histamine N-methyltransferase
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPA14 heat shock 70kDa protein 14
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IFNG interferon, gamma
KDM5B lysine (K)-specific demethylase 5B
KIF2A kinesin heavy chain member 2A
KIF5C kinesin family member 5C
KIFBP kinesin family binding protein
LGI1 leucine-rich, glioma inactivated 1
LINS lines homolog (Drosophila)
LMAN2L lectin, mannose-binding 2-like
MAN1B1 mannosidase, alpha, class 1B, member 1
MAP1B microtubule-associated protein 1B
MAP2 microtubule-associated protein 2
MBOAT7 membrane bound O-acyltransferase domain containing 7
MED23 mediator complex subunit 23
MED25 mediator complex subunit 25
METTL23 methyltransferase like 23
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NES nestin
NF2 neurofibromin 2 (merlin)
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NR4A2 nuclear receptor subfamily 4, group A, member 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PGAP1 post-GPI attachment to proteins 1
PIGC phosphatidylinositol glycan anchor biosynthesis, class C
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
POMT1 protein-O-mannosyltransferase 1
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PTEN phosphatase and tensin homolog
RELN reelin
RSRC1 arginine/serine-rich coiled-coil 1
RTTN rotatin
SARS1 seryl-tRNA synthetase 1
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
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SEPT5 septin 5
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC45A1 solute carrier family 45, member 1
SNAP29 synaptosomal-associated protein, 29kDa
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
STX1B syntaxin 1B
TBCD tubulin folding cofactor D
TBR1 T-box, brain, 1
TECR trans-2,3-enoyl-CoA reductase
TGFB1 transforming growth factor, beta 1
TNIK TRAF2 and NCK interacting kinase
TRAPPC9 trafficking protein particle complex 9
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TUBB tubulin, beta class I
TUBB2A tubulin, beta 2A class IIa
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TUBB4A tubulin, beta 4A class IVa
TUBG1 tubulin, gamma 1
TUSC3 tumor suppressor candidate 3
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
VRK2 vaccinia related kinase 2
WARS2 tryptophanyl tRNA synthetase 2, mitochondrial
WASHC4 WASH complex subunit 4
WDR62 WD repeat domain 62
WNT1 wingless-type MMTV integration site family, member 1
ZC3H14 zinc finger CCCH-type containing 14