Pachygyria Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex. (Human Phenotype Ontology, HP_0001302)
External Link https://www.disgenet.org/browser/0/1/0/C0266483
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Genes

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

Symbol Name
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3
ADGRG1 adhesion G protein-coupled receptor G1
ANKLE2 ankyrin repeat and LEM domain containing 2
ARHGAP31 Rho GTPase activating protein 31
ARX aristaless related homeobox
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
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
ATR ATR serine/threonine kinase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
BICD2 bicaudal D homolog 2 (Drosophila)
C7ORF43 chromosome 7 open reading frame 43
CASC5 cancer susceptibility candidate 5
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CCBE1 collagen and calcium binding EGF domains 1
CCDC88A coiled-coil domain containing 88A
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDK6 cyclin-dependent kinase 6
CDKL5 cyclin-dependent kinase-like 5
CENPJ centromere protein J
CEP135 centrosomal protein 135kDa
CEP152 centrosomal protein 152kDa
CEP63 centrosomal protein 63kDa
CIT citron rho-interacting serine/threonine kinase
CNTNAP2 contactin associated protein-like 2
COL4A1 collagen, type IV, alpha 1
COPB2 coatomer protein complex, subunit beta 2 (beta prime)
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CTNNA2 catenin (cadherin-associated protein), alpha 2
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCHS1 dachsous cadherin-related 1
DCX doublecortin
DHCR24 24-dehydrocholesterol reductase
DIMT1 DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)
DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FAT4 FAT atypical cadherin 4
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FOXG1 forkhead box G1
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GPX4 glutathione peroxidase 4
ISCA1 iron-sulfur cluster assembly 1
ISPD isoprenoid synthase domain containing
KATNB1 katanin p80 (WD repeat containing) subunit B 1
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KIF14 kinesin family member 14
KIF2A kinesin heavy chain member 2A
KIF5C kinesin family member 5C
KIFBP kinesin family binding protein
LAGE3 L antigen family, member 3
LAMA2 laminin, alpha 2
LAMB1 laminin, beta 1
LAMC3 laminin, gamma 3
LARGE like-glycosyltransferase
MACF1 microtubule-actin crosslinking factor 1
MCPH1 microcephalin 1
MFSD2A major facilitator superfamily domain containing 2A
NCAPD3 non-SMC condensin II complex, subunit D3
NDE1 nudE neurodevelopment protein 1
NEUROD2 neuronal differentiation 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NSDHL NAD(P) dependent steroid dehydrogenase-like
NUP107 nucleoporin 107kDa
NUP133 nucleoporin 133kDa
OCLN occludin
OSGEP O-sialoglycoprotein endopeptidase
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PEX10 peroxisomal biogenesis factor 10
PEX2 peroxisomal biogenesis factor 2
PHC1 polyhomeotic homolog 1 (Drosophila)
PHGDH phosphoglycerate dehydrogenase
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PNKP polynucleotide kinase 3'-phosphatase
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
PYCR2 pyrroline-5-carboxylate reductase family, member 2
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RELN reelin
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RTTN rotatin
SASS6 spindle assembly 6 homolog (C. elegans)
SCN2A sodium channel, voltage gated, type II alpha subunit
SIK1 salt-inducible kinase 1
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SNAP29 synaptosomal-associated protein, 29kDa
STIL SCL/TAL1 interrupting locus
STX7 syntaxin 7
STXBP1 syntaxin binding protein 1
TAF13 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa
TBC1D20 TBC1 domain family, member 20
TBR1 T-box, brain, 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TMEM5 transmembrane protein 5
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TP53RK TP53 regulating kinase
TPRKB TP53RK binding protein
TRIM8 tripartite motif containing 8
TUBA1A tubulin, alpha 1a
TUBB2A tubulin, beta 2A class IIa
TUBB2B tubulin, beta 2B class IIb
TUBG1 tubulin, gamma 1
TUBGCP6 tubulin, gamma complex associated protein 6
VAC14 Vac14 homolog (S. cerevisiae)
VLDLR very low density lipoprotein receptor
WDR4 WD repeat domain 4
WDR62 WD repeat domain 62
WDR73 WD repeat domain 73
ZIC1 Zic family member 1
ZNHIT3 zinc finger, HIT-type containing 3