abnormality of the cerebral cortex Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the cerebral cortex. (Human Phenotype Ontology, HP_0002538)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002538
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Genes

99 genes associated with the abnormality of the cerebral cortex phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ACTG1 actin gamma 1
ADGRG1 adhesion G protein-coupled receptor G1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ARHGAP31 Rho GTPase activating protein 31
ARX aristaless related homeobox
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATR ATR serine/threonine kinase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
BMPER BMP binding endothelial regulator
BRAF B-Raf proto-oncogene, serine/threonine kinase
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CCBE1 collagen and calcium binding EGF domains 1
CCND2 cyclin D2
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
COL18A1 collagen, type XVIII, alpha 1
CPT2 carnitine palmitoyltransferase 2
DCHS1 dachsous cadherin-related 1
DCX doublecortin
DHCR7 7-dehydrocholesterol reductase
DOCK6 dedicator of cytokinesis 6
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
ERCC1 excision repair cross-complementation group 1
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FOXG1 forkhead box G1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FTO fat mass and obesity associated
GLI2 GLI family zinc finger 2
GPSM2 G-protein signaling modulator 2
GRIP1 glutamate receptor interacting protein 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HYLS1 hydrolethalus syndrome 1
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
ISPD isoprenoid synthase domain containing
KIF1BP KIF1 binding protein
KIF2A kinesin heavy chain member 2A
KIF5C kinesin family member 5C
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MLYCD malonyl-CoA decarboxylase
NDE1 nudE neurodevelopment protein 1
NEK1 NIMA-related kinase 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NSDHL NAD(P) dependent steroid dehydrogenase-like
OCLN occludin
OFD1 oral-facial-digital syndrome 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PC pyruvate carboxylase
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX13 peroxisomal biogenesis factor 13
PHGDH phosphoglycerate dehydrogenase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
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
RAB18 RAB18, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RECQL4 RecQ protein-like 4
RELN reelin
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RTTN rotatin
SF3B4 splicing factor 3b, subunit 4, 49kDa
SNAP29 synaptosomal-associated protein, 29kDa
SRD5A3 steroid 5 alpha-reductase 3
SRPX2 sushi-repeat containing protein, X-linked 2
TBC1D20 TBC1 domain family, member 20
TMEM5 transmembrane protein 5
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TUBA1A tubulin, alpha 1a
TUBA8 tubulin, alpha 8
TUBB tubulin, beta class I
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TUFM Tu translation elongation factor, mitochondrial
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VLDLR very low density lipoprotein receptor
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDR62 WD repeat domain 62