polymicrogyria Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain. (Human Phenotype Ontology, HP_0002126)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002126
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Genes

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

Symbol Name
ADGRG1 adhesion G protein-coupled receptor G1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ARHGAP31 Rho GTPase activating protein 31
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
BMPER BMP binding endothelial regulator
CCND2 cyclin D2
COL18A1 collagen, type XVIII, alpha 1
CPT2 carnitine palmitoyltransferase 2
DOCK6 dedicator of cytokinesis 6
ERCC1 excision repair cross-complementation group 1
FH fumarate hydratase
FKTN fukutin
GPSM2 G-protein signaling modulator 2
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
ISPD isoprenoid synthase domain containing
KIF1BP KIF1 binding protein
KIF5C kinesin family member 5C
MECP2 methyl CpG binding protein 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
OCLN occludin
PEX1 peroxisomal biogenesis factor 1
PEX13 peroxisomal biogenesis factor 13
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-)
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
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
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
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDR62 WD repeat domain 62