Malformations Of Cortical Development Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1837249
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Genes

214 genes associated with the disease Malformations Of Cortical Development in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABI2 abl-interactor 2
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACTB actin, beta
ADGRG1 adhesion G protein-coupled receptor G1
AGER advanced glycosylation end product-specific receptor
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARX aristaless related homeobox
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATOH1 atonal homolog 1 (Drosophila)
ATOX1 antioxidant 1 copper chaperone
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BCL2L1 BCL2-like 1
BICD2 bicaudal D homolog 2 (Drosophila)
C5 complement component 5
C5AR1 complement component 5a receptor 1
C5ORF42 chromosome 5 open reading frame 42
CBR1 carbonyl reductase 1
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CCNA2 cyclin A2
CCNB1 cyclin B1
CCR7 chemokine (C-C motif) receptor 7
CDC42 cell division cycle 42
CDC42SE1 CDC42 small effector 1
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDK1 cyclin-dependent kinase 1
CDK5 cyclin-dependent kinase 5
CDYL chromodomain protein, Y-like
CEP290 centrosomal protein 290kDa
CNR1 cannabinoid receptor 1 (brain)
CNTNAP2 contactin associated protein-like 2
COX1
COX2
COX3
CPE carboxypeptidase E
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CTNND1 catenin (cadherin-associated protein), delta 1
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCDC2 doublecortin domain containing 2
DCX doublecortin
DEPDC5 DEP domain containing 5
DLGAP2 discs, large (Drosophila) homolog-associated protein 2
DMD dystrophin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EBF3 early B-cell factor 3
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EP300 E1A binding protein p300
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHA4 EPH receptor A4
FAM149B1 family with sequence similarity 149, member B1
FBXO41 F-box protein 41
FGF13 fibroblast growth factor 13
FGFR3 fibroblast growth factor receptor 3
FHOD1 formin homology 2 domain containing 1
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FOXG1 forkhead box G1
GDF6 growth differentiation factor 6
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HMGB1 high mobility group box 1
HRAS Harvey rat sarcoma viral oncogene homolog
IFT140 intraflagellar transport 140
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INTS8 integrator complex subunit 8
IP6K1 inositol hexakisphosphate kinase 1
IPMK inositol polyphosphate multikinase
IPO8 importin 8
IQCB1 IQ motif containing B1
IQGAP1 IQ motif containing GTPase activating protein 1
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
KATNB1 katanin p80 (WD repeat containing) subunit B 1
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KIAA0195 KIAA0195
KIAA0319 KIAA0319
KIAA0319L KIAA0319-like
KIAA0753 KIAA0753
KIF2A kinesin heavy chain member 2A
KIF5C kinesin family member 5C
KIF7 kinesin family member 7
KIFBP kinesin family binding protein
LAMA1 laminin, alpha 1
LARGE like-glycosyltransferase
LCA5 Leber congenital amaurosis 5
LDHA lactate dehydrogenase A
LIN7B lin-7 homolog B (C. elegans)
LOC102723407 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8
LOC102724971 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8
LPAR4 lysophosphatidic acid receptor 4
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MALT1 MALT1 paracaspase
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K7 mitogen-activated protein kinase kinase 7
MASP2 mannan-binding lectin serine peptidase 2
MLYCD malonyl-CoA decarboxylase
MOK MOK protein kinase
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)
MUC1 mucin 1, cell surface associated
MYH9 myosin, heavy chain 9, non-muscle
MYORG myogenesis regulating glycosidase (putative)
NBN nibrin
ND1
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEUROD1 neuronal differentiation 1
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PCM1 pericentriolar material 1
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3
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
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLK4 polo-like kinase 4
POMT1 protein-O-mannosyltransferase 1
PREX1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1
PRMT6 protein arginine methyltransferase 6
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PTPN4 protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)
RAB23 RAB23, member RAS oncogene family
RAB8A RAB8A, member RAS oncogene family
RBM4 RNA binding motif protein 4
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RELN reelin
RET ret proto-oncogene
RHOA ras homolog family member A
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RTTN rotatin
S100A6 S100 calcium binding protein A6
SCN1A sodium channel, voltage gated, type I alpha subunit
SDC2 syndecan 2
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SMOC1 SPARC related modular calcium binding 1
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SPATA7 spermatogenesis associated 7
STX7 syntaxin 7
TBC1D8B TBC1 domain family, member 8B (with GRAM domain)
TBCD tubulin folding cofactor D
TCTN3 tectonic family member 3
THBS1 thrombospondin 1
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TNFRSF19 tumor necrosis factor receptor superfamily, member 19
TP53 tumor protein p53
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TUBA1A tubulin, alpha 1a
TUBA1B tubulin, alpha 1b
TUBA8 tubulin, alpha 8
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
TUBGCP4 tubulin, gamma complex associated protein 4
TUBGCP6 tubulin, gamma complex associated protein 6
TULP1 tubby like protein 1
USP45 ubiquitin specific peptidase 45
WASHC5 WASH complex subunit 5
WDR62 WD repeat domain 62
XPR1 xenotropic and polytropic retrovirus receptor 1
YAP1 Yes-associated protein 1
ZBTB18 zinc finger and BTB domain containing 18
ZEB1 zinc finger E-box binding homeobox 1
ZNF423 zinc finger protein 423
ZNF513 zinc finger protein 513