pachygyria Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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 http://compbio.charite.de/hpoweb/showterm?id=HP:0001302
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Genes

38 genes associated with the pachygyria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ARHGAP31 Rho GTPase activating protein 31
ARX aristaless related homeobox
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATR ATR serine/threonine kinase
CCBE1 collagen and calcium binding EGF domains 1
DCHS1 dachsous cadherin-related 1
DCX doublecortin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FOXG1 forkhead box G1
ISPD isoprenoid synthase domain containing
KIF1BP KIF1 binding protein
KIF2A kinesin heavy chain member 2A
LARGE like-glycosyltransferase
MLYCD malonyl-CoA decarboxylase
NDE1 nudE neurodevelopment protein 1
NEK1 NIMA-related kinase 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
OCLN occludin
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PEX10 peroxisomal biogenesis factor 10
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SNAP29 synaptosomal-associated protein, 29kDa
TUBA1A tubulin, alpha 1a
TUBB2B tubulin, beta 2B class IIb
VLDLR very low density lipoprotein receptor
WDR62 WD repeat domain 62