Lissencephaly Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
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

38 genes involed in the disease Lissencephaly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
TUBB2B tubulin, beta 2B class IIb 5.0
GPR101 G protein-coupled receptor 101 5.0
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 4.0
APC2 adenomatosis polyposis coli 2 4.0
POMK protein-O-mannose kinase 4.0
TP73 tumor protein p73 4.0
KATNB1 katanin p80 (WD repeat containing) subunit B 1 4.0
TMTC3 transmembrane and tetratricopeptide repeat containing 3 4.0
CASP2 caspase 2, apoptosis-related cysteine peptidase 4.0
CDK5 cyclin-dependent kinase 5 4.0
FKRP fukutin related protein 4.0
CEP85L centrosomal protein 85kDa-like 4.0
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 4.0
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 4.0
TUBGCP2 tubulin, gamma complex associated protein 2 4.0
ARX aristaless related homeobox 4.0
CRPPA CDP-L-ribitol pyrophosphorylase A 4.0
RXYLT1 ribitol xylosyltransferase 1 4.0
FKTN fukutin 4.0
MACF1 microtubule-actin crosslinking factor 1 4.0
EML1 echinoderm microtubule associated protein like 1 4.0
LAMB1 laminin, beta 1 4.0
TUBA1A tubulin, alpha 1a 4.0
POMT1 protein-O-mannosyltransferase 1 4.0
POMT2 protein-O-mannosyltransferase 2 4.0
DCX doublecortin 4.0
NDE1 nudE neurodevelopment protein 1 4.0
CRADD CASP2 and RIPK1 domain containing adaptor with death domain 4.0
CAMSAP1 calmodulin regulated spectrin-associated protein 1 4.0
RELN reelin 4.0
CTNNA2 catenin (cadherin-associated protein), alpha 2 4.0
B4GAT1 beta-1,4-glucuronyltransferase 1 4.0
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 4.0
TMX2 thioredoxin-related transmembrane protein 2 4.0
TUBG1 tubulin, gamma 1 4.0
KIF2A kinesin heavy chain member 2A 4.0
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 4.0
LARGE1 LARGE xylosyl- and glucuronyltransferase 1 4.0