abnormal cerebral cortex morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of thin layer of grey matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri; it is responsible for intellectual faculties and higher mental functions (Mammalian Phenotype Ontology, MP_0000788)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000788
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Genes

209 gene mutations causing the abnormal cerebral cortex morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABI2 abl-interactor 2
ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase
ADCY1 adenylate cyclase 1 (brain)
ADGRG1 adhesion G protein-coupled receptor G1
AK7 adenylate kinase 7
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APAF1 apoptotic peptidase activating factor 1
APC2 adenomatosis polyposis coli 2
APOE apolipoprotein E
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARHGAP33 Rho GTPase activating protein 33
ARHGAP35 Rho GTPase activating protein 35
ARHGAP5 Rho GTPase activating protein 5
ARL6 ADP-ribosylation factor-like 6
ARX aristaless related homeobox
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRN attractin
B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
BASP1 brain abundant, membrane attached signal protein 1
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BDNF brain-derived neurotrophic factor
BHLHE22 basic helix-loop-helix family, member e22
BRAF B-Raf proto-oncogene, serine/threonine kinase
CADM1 cell adhesion molecule 1
CASP6 caspase 6, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CCDC88A coiled-coil domain containing 88A
CD40LG CD40 ligand
CD81 CD81 molecule
CDK5 cyclin-dependent kinase 5
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDON cell adhesion associated, oncogene regulated
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CFL1 cofilin 1 (non-muscle)
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHN1 chimerin 1
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CLCN3 chloride channel, voltage-sensitive 3
CLCN7 chloride channel, voltage-sensitive 7
CLN3 ceroid-lipofuscinosis, neuronal 3
CNR1 cannabinoid receptor 1 (brain)
CNTN6 contactin 6
COL4A1 collagen, type IV, alpha 1
CUX2 cut-like homeobox 2
CXCR4 chemokine (C-X-C motif) receptor 4
CYCS cytochrome c, somatic
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DISC1 disrupted in schizophrenia 1
DMRT3 doublesex and mab-3 related transcription factor 3
DMRTA2 DMRT-like family A2
DNAAF2 dynein, axonemal, assembly factor 2
DNAH5 dynein, axonemal, heavy chain 5
DOCK3 dedicator of cytokinesis 3
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
E2F5 E2F transcription factor 5, p130-binding
EGFR epidermal growth factor receptor
EMX2 empty spiracles homeobox 2
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHA4 EPH receptor A4
ERBB3 erb-b2 receptor tyrosine kinase 3
ESR2 estrogen receptor 2 (ER beta)
FARP2 FERM, RhoGEF and pleckstrin domain protein 2
FEZF2 FEZ family zinc finger 2
FGF2 fibroblast growth factor 2 (basic)
FKRP fukutin related protein
FOXC1 forkhead box C1
FOXG1 forkhead box G1
FRS2 fibroblast growth factor receptor substrate 2
FYN FYN proto-oncogene, Src family tyrosine kinase
FZD3 frizzled class receptor 3
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GAP43 growth associated protein 43
GCLM glutamate-cysteine ligase, modifier subunit
GDF7 growth differentiation factor 7
GLI3 GLI family zinc finger 3
GM2A GM2 ganglioside activator
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HAP1 huntingtin-associated protein 1
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HTT huntingtin
HYDIN HYDIN, axonemal central pair apparatus protein
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
ITGA6 integrin, alpha 6
JAM3 junctional adhesion molecule 3
KALRN kalirin, RhoGEF kinase
KAT6B K(lysine) acetyltransferase 6B
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KIF14 kinesin family member 14
KIF20B kinesin family member 20B
KIF2A kinesin heavy chain member 2A
KLF7 Kruppel-like factor 7 (ubiquitous)
L1CAM L1 cell adhesion molecule
LAMC1 laminin, gamma 1 (formerly LAMB2)
LEF1 lymphoid enhancer-binding factor 1
LHX2 LIM homeobox 2
LHX6 LIM homeobox 6
LIG4 ligase IV, DNA, ATP-dependent
LILRB3 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3
LLGL1 lethal giant larvae homolog 1 (Drosophila)
LMNB1 lamin B1
LMNB2 lamin B2
LMO4 LIM domain only 4
LMX1B LIM homeobox transcription factor 1, beta
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
LRRTM1 leucine rich repeat transmembrane neuronal 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAN2C1 mannosidase, alpha, class 2C, member 1
MANBA mannosidase, beta A, lysosomal
MAOA monoamine oxidase A
MAP1B microtubule-associated protein 1B
MAP3K12 mitogen-activated protein kinase kinase kinase 12
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MAPT microtubule-associated protein tau
MARCKS myristoylated alanine-rich protein kinase C substrate
MARCKSL1 MARCKS-like 1
MBOAT7 membrane bound O-acyltransferase domain containing 7
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MSI1 musashi RNA-binding protein 1
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
MYH10 myosin, heavy chain 10, non-muscle
NAGLU N-acetylglucosaminidase, alpha
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NDE1 nudE neurodevelopment protein 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NPAS3 neuronal PAS domain protein 3
NPC1 Niemann-Pick disease, type C1
NR2F1 nuclear receptor subfamily 2, group F, member 1
NRD1 nardilysin (N-arginine dibasic convertase)
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OPHN1 oligophrenin 1
OTC ornithine carbamoyltransferase
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAH phenylalanine hydroxylase
PAX6 paired box 6
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PEX11B peroxisomal biogenesis factor 11 beta
PEX13 peroxisomal biogenesis factor 13
PEX2 peroxisomal biogenesis factor 2
PEX5 peroxisomal biogenesis factor 5
PEX7 peroxisomal biogenesis factor 7
PINK1 PTEN induced putative kinase 1
PLAUR plasminogen activator, urokinase receptor
PLXNA4 plexin A4
POLB polymerase (DNA directed), beta
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POU3F3 POU class 3 homeobox 3
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPT1 palmitoyl-protein thioesterase 1
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRNP prion protein
PROS1 protein S (alpha)
PSEN1 presenilin 1
PTPRA protein tyrosine phosphatase, receptor type, A
RDH10 retinol dehydrogenase 10 (all-trans)
RELN reelin
RIMS1 regulating synaptic membrane exocytosis 1
RPS7 ribosomal protein S7
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLX4 SLX4 structure-specific endonuclease subunit
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAP25 synaptosomal-associated protein, 25kDa
SOCS7 suppressor of cytokine signaling 7
SOD2 superoxide dismutase 2, mitochondrial
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1
STAMBP STAM binding protein
STXBP3 syntaxin binding protein 3
SUZ12 SUZ12 polycomb repressive complex 2 subunit
TENM2 teneurin transmembrane protein 2
TNF tumor necrosis factor
TOP2B topoisomerase (DNA) II beta 180kDa
TP53BP2 tumor protein p53 binding protein 2
TP73 tumor protein p73
TTL tubulin tyrosine ligase
TUBA1A tubulin, alpha 1a
TUBB2B tubulin, beta 2B class IIb
UBE3A ubiquitin protein ligase E3A
UCHL5 ubiquitin carboxyl-terminal hydrolase L5
USP18 ubiquitin specific peptidase 18
VAC14 Vac14 homolog (S. cerevisiae)
WASF1 WAS protein family, member 1
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB18 zinc finger and BTB domain containing 18
ZDHHC13 zinc finger, DHHC-type containing 13
ZDHHC17 zinc finger, DHHC-type containing 17
ZIC2 Zic family member 2
ZIC3 Zic family member 3
ZIC5 Zic family member 5