Polymicrogyria Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain. (Human Phenotype Ontology, HP_0002126)
External Link https://www.disgenet.org/browser/0/1/0/C0266464
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Genes

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

Symbol Name
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4
ADGRG1 adhesion G protein-coupled receptor G1
AHI1 Abelson helper integration site 1
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
ARHGAP31 Rho GTPase activating protein 31
ARL13B ADP-ribosylation factor-like 13B
ARL3 ADP-ribosylation factor-like 3
ARMC9 armadillo repeat containing 9
ARX aristaless related homeobox
ATN1 atrophin 1
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
B9D1 B9 protein domain 1
BMPER BMP binding endothelial regulator
BORCS5 BLOC-1 related complex subunit 5
C12ORF4 chromosome 12 open reading frame 4
C2CD3 C2 calcium-dependent domain containing 3
C5ORF42 chromosome 5 open reading frame 42
CC2D1A coiled-coil and C2 domain containing 1A
CCDC88A coiled-coil domain containing 88A
CCND2 cyclin D2
CEP104 centrosomal protein 104kDa
CEP120 centrosomal protein 120kDa
CEP41 centrosomal protein 41kDa
CLIP1 CAP-GLY domain containing linker protein 1
COL18A1 collagen, type XVIII, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
CPT2 carnitine palmitoyltransferase 2
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CRBN cereblon
CSPP1 centrosome and spindle pole associated protein 1
CTSB cathepsin B
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCPS decapping enzyme, scavenger
DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
DHCR24 24-dehydrocholesterol reductase
DISC1 disrupted in schizophrenia 1
DOCK6 dedicator of cytokinesis 6
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EDC3 enhancer of mRNA decapping 3
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EML1 echinoderm microtubule associated protein like 1
ENG endoglin
EOMES eomesodermin
ERCC1 excision repair cross-complementation group 1
ERMARD ER membrane-associated RNA degradation
EZR ezrin
FBXO31 F-box protein 31
FGD1 FYVE, RhoGEF and PH domain containing 1
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FMN2 formin 2
FRRS1L ferric-chelate reductase 1-like
GFM1 G elongation factor, mitochondrial 1
GMPPB GDP-mannose pyrophosphorylase B
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GPHN gephyrin
GPSM2 G-protein signaling modulator 2
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
HNMT histamine N-methyltransferase
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HYLS1 hydrolethalus syndrome 1
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IGF1 insulin-like growth factor 1 (somatomedin C)
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ISPD isoprenoid synthase domain containing
ITSN1 intersectin 1 (SH3 domain protein)
KATNB1 katanin p80 (WD repeat containing) subunit B 1
KDM5B lysine (K)-specific demethylase 5B
KIAA0556 KIAA0556
KIAA0586 KIAA0586
KIF5C kinesin family member 5C
KIFBP kinesin family binding protein
KLHL15 kelch-like family member 15
LAGE3 L antigen family, member 3
LAMA2 laminin, alpha 2
LAMC3 laminin, gamma 3
LARGE like-glycosyltransferase
LINS lines homolog (Drosophila)
LMAN2L lectin, mannose-binding 2-like
MAN1B1 mannosidase, alpha, class 1B, member 1
MAP1B microtubule-associated protein 1B
MBOAT7 membrane bound O-acyltransferase domain containing 7
MECP2 methyl CpG binding protein 2
MED23 mediator complex subunit 23
MED25 mediator complex subunit 25
METTL23 methyltransferase like 23
MKS1 Meckel syndrome, type 1
MN1 meningioma (disrupted in balanced translocation) 1
MPL MPL proto-oncogene, thrombopoietin receptor
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NHEJ1 nonhomologous end-joining factor 1
NPHP1 nephronophthisis 1 (juvenile)
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCLN occludin
PAX6 paired box 6
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
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
PGAP1 post-GPI attachment to proteins 1
PHGDH phosphoglycerate dehydrogenase
PI4KA phosphatidylinositol 4-kinase, catalytic, alpha
PIBF1 progesterone immunomodulatory binding factor 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
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLAUR plasminogen activator, urokinase receptor
PMP22 peripheral myelin protein 22
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PRICKLE1 prickle homolog 1 (Drosophila)
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PSAT1 phosphoserine aminotransferase 1
PTEN phosphatase and tensin homolog
RAB18 RAB18, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RECQL4 RecQ protein-like 4
RPGRIP1L RPGRIP1-like
RSRC1 arginine/serine-rich coiled-coil 1
RTTN rotatin
SARS1 seryl-tRNA synthetase 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN3A sodium channel, voltage gated, type III alpha subunit
SEPT5 septin 5
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHC2 SHC (Src homology 2 domain containing) transforming protein 2
SLC45A1 solute carrier family 45, member 1
SNAP29 synaptosomal-associated protein, 29kDa
SON SON DNA binding protein
SRD5A3 steroid 5 alpha-reductase 3
SRPX2 sushi-repeat containing protein, X-linked 2
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
TBC1D24 TBC1 domain family, member 24
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TECR trans-2,3-enoyl-CoA reductase
TH tyrosine hydroxylase
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TNIK TRAF2 and NCK interacting kinase
TP53RK TP53 regulating kinase
TRAPPC9 trafficking protein particle complex 9
TRRAP transformation/transcription domain-associated protein
TUBA1A tubulin, alpha 1a
TUBA1B tubulin, alpha 1b
TUBA8 tubulin, alpha 8
TUBB tubulin, beta class I
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TUBB4A tubulin, beta 4A class IVa
TUFM Tu translation elongation factor, mitochondrial
TUSC3 tumor suppressor candidate 3
USP18 ubiquitin specific peptidase 18
WARS2 tryptophanyl tRNA synthetase 2, mitochondrial
WASHC4 WASH complex subunit 4
WDR62 WD repeat domain 62
WT1 Wilms tumor 1
ZC3H14 zinc finger CCCH-type containing 14
ZNHIT3 zinc finger, HIT-type containing 3