lissencephaly Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
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)
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Genes

18 genes involed in the disease lissencephaly from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ARX aristaless related homeobox
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
DCX doublecortin
FKRP fukutin related protein
FKTN fukutin
ISPD isoprenoid synthase domain containing
LAMB1 laminin, beta 1
NDE1 nudE neurodevelopment protein 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
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