lissencephaly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. (Human Disease Ontology, DOID_0050453)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001339
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Genes

28 genes associated with the lissencephaly 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
ARX aristaless related homeobox
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
DCX doublecortin
FKRP fukutin related protein
FKTN fukutin
FTO fat mass and obesity associated
ISPD isoprenoid synthase domain containing
KIF2A kinesin heavy chain member 2A
LARGE like-glycosyltransferase
NDE1 nudE neurodevelopment protein 1
OCLN occludin
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PEX13 peroxisomal biogenesis factor 13
PHGDH phosphoglycerate dehydrogenase
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
RELN reelin
TMEM5 transmembrane protein 5
TUBA1A tubulin, alpha 1a
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDR62 WD repeat domain 62