Lissencephaly Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0796089
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Genes

73 genes associated with the disease Lissencephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ACTG1 actin gamma 1
ADGRG1 adhesion G protein-coupled receptor G1
APC2 adenomatosis polyposis coli 2
ARX aristaless related homeobox
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CALM2 calmodulin 2 (phosphorylase kinase, delta)
CALM3 calmodulin 3 (phosphorylase kinase, delta)
CAMKMT calmodulin-lysine N-methyltransferase
CASP2 caspase 2, apoptosis-related cysteine peptidase
CAST calpastatin
CD6 CD6 molecule
CDK5 cyclin-dependent kinase 5
CENPJ centromere protein J
CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CTNNA2 catenin (cadherin-associated protein), alpha 2
CTU2 cytosolic thiouridylase subunit 2 homolog (S. pombe)
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DBNL drebrin-like
DCX doublecortin
DISC1 disrupted in schizophrenia 1
DLD dihydrolipoamide dehydrogenase
EXOSC3 exosome component 3
FTO fat mass and obesity associated
HIC1 hypermethylated in cancer 1
KATNB1 katanin p80 (WD repeat containing) subunit B 1
KIAA0319 KIAA0319
KIAA1109 KIAA1109
KIF2A kinesin heavy chain member 2A
KRIT1 KRIT1, ankyrin repeat containing
LAMB1 laminin, beta 1
MACF1 microtubule-actin crosslinking factor 1
MECP2 methyl CpG binding protein 2
MNT MAX network transcriptional repressor
MPDZ multiple PDZ domain protein
NBN nibrin
NDE1 nudE neurodevelopment protein 1
NDEL1 nudE neurodevelopment protein 1-like 1
NPC1 Niemann-Pick disease, type C1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PEX13 peroxisomal biogenesis factor 13
PEX26 peroxisomal biogenesis factor 26
PHGDH phosphoglycerate dehydrogenase
PSAT1 phosphoserine aminotransferase 1
PTAFR platelet-activating factor receptor
RELN reelin
RMDN1 regulator of microtubule dynamics 1
RMDN2 regulator of microtubule dynamics 2
RMDN3 regulator of microtubule dynamics 3
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SMG6 SMG6 nonsense mediated mRNA decay factor
STIL SCL/TAL1 interrupting locus
STS steroid sulfatase (microsomal), isozyme S
STXBP1 syntaxin binding protein 1
SYBU syntabulin (syntaxin-interacting)
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TP53 tumor protein p53
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TUBA1A tubulin, alpha 1a
TUBA1B tubulin, alpha 1b
TUBA3E tubulin, alpha 3e
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TUBG1 tubulin, gamma 1
TUBGCP2 tubulin, gamma complex associated protein 2
VLDLR very low density lipoprotein receptor
WDR47 WD repeat domain 47
WDR62 WD repeat domain 62
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZIC1 Zic family member 1