abnormality of neuronal migration Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. (Human Phenotype Ontology, HP_0002269)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002269
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Genes

182 genes associated with the abnormality of neuronal migration 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
AHI1 Abelson helper integration site 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ANKRD11 ankyrin repeat domain 11
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARHGAP31 Rho GTPase activating protein 31
ARL13B ADP-ribosylation factor-like 13B
ARX aristaless related homeobox
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATR ATR serine/threonine kinase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
B9D1 B9 protein domain 1
BMPER BMP binding endothelial regulator
C5ORF42 chromosome 5 open reading frame 42
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCND2 cyclin D2
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
COL18A1 collagen, type XVIII, alpha 1
COL4A1 collagen, type IV, alpha 1
COX1
COX2
COX3
CPT2 carnitine palmitoyltransferase 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CSPP1 centrosome and spindle pole associated protein 1
DCHS1 dachsous cadherin-related 1
DCX doublecortin
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DOCK6 dedicator of cytokinesis 6
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC1 excision repair cross-complementation group 1
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FAM111A family with sequence similarity 111, member A
FAT4 FAT atypical cadherin 4
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FOXG1 forkhead box G1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FTO fat mass and obesity associated
GDF6 growth differentiation factor 6
GLI2 GLI family zinc finger 2
GPSM2 G-protein signaling modulator 2
GPX4 glutathione peroxidase 4
GRIP1 glutamate receptor interacting protein 1
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HIC1 hypermethylated in cancer 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HYLS1 hydrolethalus syndrome 1
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IQCB1 IQ motif containing B1
ISPD isoprenoid synthase domain containing
KAT6B K(lysine) acetyltransferase 6B
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KIAA0196 KIAA0196
KIF1BP KIF1 binding protein
KIF2A kinesin heavy chain member 2A
KIF5C kinesin family member 5C
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
LCA5 Leber congenital amaurosis 5
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MKS1 Meckel syndrome, type 1
MLYCD malonyl-CoA decarboxylase
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
NBN nibrin
ND1
NDE1 nudE neurodevelopment protein 1
NEK1 NIMA-related kinase 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NPHP1 nephronophthisis 1 (juvenile)
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)
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
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
PSAT1 phosphoserine aminotransferase 1
PTEN phosphatase and tensin homolog
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
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)
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
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SNAP29 synaptosomal-associated protein, 29kDa
SPATA7 spermatogenesis associated 7
SRD5A3 steroid 5 alpha-reductase 3
SRPX2 sushi-repeat containing protein, X-linked 2
STS steroid sulfatase (microsomal), isozyme S
TBC1D20 TBC1 domain family, member 20
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
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
TUBGCP6 tubulin, gamma complex associated protein 6
TUFM Tu translation elongation factor, mitochondrial
TULP1 tubby like protein 1
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
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZNF423 zinc finger protein 423