lissencephaly Gene Set

Dataset DISEASES Text-mining 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

185 genes co-occuring with the disease lissencephaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 3.78015
DCX doublecortin 2.82592
ARX aristaless related homeobox 2.24842
RELN reelin 2.20897
NDEL1 nudE neurodevelopment protein 1-like 1 2.11145
TUBA1A tubulin, alpha 1a 2.04011
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon 1.95065
FKTN fukutin 1.94219
TUBB2B tubulin, beta 2B class IIb 1.89963
NUDC nudC nuclear distribution protein 1.89499
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.81961
PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 1.77631
NDE1 nudE neurodevelopment protein 1 1.72046
POMT1 protein-O-mannosyltransferase 1 1.71453
DCLK1 doublecortin-like kinase 1 1.6624
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 1.62157
DCTN1 dynactin 1 1.60145
VLDLR very low density lipoprotein receptor 1.52556
POMT2 protein-O-mannosyltransferase 2 1.51194
RMND5A required for meiotic nuclear division 5 homolog A (S. cerevisiae) 1.47067
ADGRG1 adhesion G protein-coupled receptor G1 1.46276
FKRP fukutin related protein 1.39477
DISC1 disrupted in schizophrenia 1 1.34853
MKLN1 muskelin 1, intracellular mediator containing kelch motifs 1.3433
ARMC8 armadillo repeat containing 8 1.34199
EMX2 empty spiracles homeobox 2 1.33807
FLNA filamin A, alpha 1.30838
TUSC5 tumor suppressor candidate 5 1.25558
CRK v-crk avian sarcoma virus CT10 oncogene homolog 1.2495
CDK5 cyclin-dependent kinase 5 1.19229
TMEM5 transmembrane protein 5 1.17679
DCLK2 doublecortin-like kinase 2 1.15922
TUBA8 tubulin, alpha 8 1.15837
PAFAH1B3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) 1.15794
NUDCD2 NudC domain containing 2 1.10132
PAFAH1B2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) 1.09587
TBCB tubulin folding cofactor B 1.09461
PPP1R9B protein phosphatase 1, regulatory subunit 9B 1.08873
MAP4 microtubule-associated protein 4 1.08454
BICD2 bicaudal D homolog 2 (Drosophila) 1.0648
ZWILCH zwilch kinetochore protein 1.02355
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 1.02355
MAP2 microtubule-associated protein 2 0.999924
NFASC neurofascin 0.961634
DCDC1 doublecortin domain containing 1 0.905265
MGAT4C MGAT4 family, member C 0.902799
WDR62 WD repeat domain 62 0.897051
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 0.89623
SRPX2 sushi-repeat containing protein, X-linked 2 0.868777
PVALB parvalbumin 0.865093
SMG6 SMG6 nonsense mediated mRNA decay factor 0.858134
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 0.851173
LAMA2 laminin, alpha 2 0.848307
KIF5A kinesin family member 5A 0.846669
SNTG2 syntrophin, gamma 2 0.846259
DNAH12 dynein, axonemal, heavy chain 12 0.843392
DNAH14 dynein, axonemal, heavy chain 14 0.843392
HMGN3 high mobility group nucleosomal binding domain 3 0.842573
ZW10 zw10 kinetochore protein 0.836427
MAPRE3 microtubule-associated protein, RP/EB family, member 3 0.833558
CLIP1 CAP-GLY domain containing linker protein 1 0.819616
RASGEF1B RasGEF domain family, member 1B 0.811821
PPAP2A phosphatidic acid phosphatase type 2A 0.801974
TBR1 T-box, brain, 1 0.763086
DSCAM Down syndrome cell adhesion molecule 0.756971
BRWD1 bromodomain and WD repeat domain containing 1 0.747204
ISPD isoprenoid synthase domain containing 0.741923
MCPH1 microcephalin 1 0.737054
SPATA13 spermatogenesis associated 13 0.733811
LMNB2 lamin B2 0.733811
CAMK2B calcium/calmodulin-dependent protein kinase II beta 0.732191
TUBG1 tubulin, gamma 1 0.720461
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5 0.714005
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 0.70233
RANBP9 RAN binding protein 9 0.698715
KLHL2 kelch-like family member 2 0.697911
TSC2 tuberous sclerosis 2 0.693499
KIAA0101 KIAA0101 0.685491
DNAH9 dynein, axonemal, heavy chain 9 0.682693
HIC1 hypermethylated in cancer 1 0.682294
BICD1 bicaudal D homolog 1 (Drosophila) 0.677504
MAPT microtubule-associated protein tau 0.67312
GMPPB GDP-mannose pyrophosphorylase B 0.669936
ARPC3 actin related protein 2/3 complex, subunit 3, 21kDa 0.666358
LMO1 LIM domain only 1 (rhombotin 1) 0.659611
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit 0.658818
CAPN7 calpain 7 0.654067
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 0.628065
CALB2 calbindin 2 0.624927
STXBP1 syntaxin binding protein 1 0.623359
DNAH5 dynein, axonemal, heavy chain 5 0.617094
D2HGDH D-2-hydroxyglutarate dehydrogenase 0.615921
IPO13 importin 13 0.614747
OTP orthopedia homeobox 0.594454
DLX5 distal-less homeobox 5 0.580828
MYT1L myelin transcription factor 1-like 0.570329
ZIC2 Zic family member 2 0.569163
DCTN2 dynactin 2 (p50) 0.562558
NUDT9 nudix (nucleoside diphosphate linked moiety X)-type motif 9 0.556344
HN1L hematological and neurological expressed 1-like 0.553239
CAMK2G calcium/calmodulin-dependent protein kinase II gamma 0.549359
APLP1 amyloid beta (A4) precursor-like protein 1 0.546644
LAMB2 laminin, beta 2 (laminin S) 0.540829
MAPRE1 microtubule-associated protein, RP/EB family, member 1 0.536957
LMO3 LIM domain only 3 (rhombotin-like 2) 0.534635
WNT8B wingless-type MMTV integration site family, member 8B 0.507657
KIF1BP KIF1 binding protein 0.506507
SUN1 Sad1 and UNC84 domain containing 1 0.504207
PASK PAS domain containing serine/threonine kinase 0.504207
EMX1 empty spiracles homeobox 1 0.496939
MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae) 0.495029
DPH1 diphthamide biosynthesis 1 0.479427
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2 0.474498
APLP2 amyloid beta (A4) precursor-like protein 2 0.473361
PTER phosphotriesterase related 0.469954
RGPD3 RANBP2-like and GRIP domain containing 3 0.465038
EML1 echinoderm microtubule associated protein like 1 0.455601
MNX1 motor neuron and pancreas homeobox 1 0.453716
CENPJ centromere protein J 0.449194
L1CAM L1 cell adhesion molecule 0.442042
NEXN nexilin (F actin binding protein) 0.43941
SHOX2 short stature homeobox 2 0.438282
OTX1 orthodenticle homeobox 1 0.430768
ZIC3 Zic family member 3 0.42289
ZIC1 Zic family member 1 0.415773
TUBB2A tubulin, beta 2A class IIa 0.410909
CTBP2 C-terminal binding protein 2 0.410909
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) 0.406425
CDK5RAP2 CDK5 regulatory subunit associated protein 2 0.395608
FBP1 fructose-1,6-bisphosphatase 1 0.394491
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.393746
CAST calpastatin 0.390769
LAMC1 laminin, gamma 1 (formerly LAMB2) 0.388166
TBCA tubulin folding cofactor A 0.384451
LMNB1 lamin B1 0.383708
SIM1 single-minded family bHLH transcription factor 1 0.382594
ASCL1 achaete-scute family bHLH transcription factor 1 0.369628
EFNB3 ephrin-B3 0.359657
GRB2 growth factor receptor-bound protein 2 0.359289
HDLBP high density lipoprotein binding protein 0.358183
PHLDA1 pleckstrin homology-like domain, family A, member 1 0.350452
MYH2 myosin, heavy chain 2, skeletal muscle, adult 0.333583
STK39 serine threonine kinase 39 0.333583
KIF1A kinesin family member 1A 0.32993
F13B coagulation factor XIII, B polypeptide 0.328834
MT-ATP8 ATP synthase F0 subunit 8 0.325187
RANBP2 RAN binding protein 2 0.32373
RICTOR RPTOR independent companion of MTOR, complex 2 0.322637
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 0.322637
STIL SCL/TAL1 interrupting locus 0.313915
CTBP1 C-terminal binding protein 1 0.313189
PQBP1 polyglutamine binding protein 1 0.312102
KDM5C lysine (K)-specific demethylase 5C 0.305226
AHSG alpha-2-HS-glycoprotein 0.301976
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 0.297651
USP9X ubiquitin specific peptidase 9, X-linked 0.288668
OPHN1 oligophrenin 1 0.28616
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 0.285802
POU3F2 POU class 3 homeobox 2 0.282225
SATB2 SATB homeobox 2 0.277584
ATOH1 atonal homolog 1 (Drosophila) 0.275089
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) 0.265849
DLG3 discs, large homolog 3 (Drosophila) 0.241895
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 0.239799
CENPF centromere protein F, 350/400kDa 0.230755
TLE1 transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 0.230755
CSNK2A1 casein kinase 2, alpha 1 polypeptide 0.211934
PTAFR platelet-activating factor receptor 0.208914
PCNT pericentrin 0.205254
NES nestin 0.204923
SOX1 SRY (sex determining region Y)-box 1 0.202618
RAC3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) 0.200982
SGCE sarcoglycan, epsilon 0.200006
RFC2 replication factor C (activator 1) 2, 40kDa 0.196779
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 0.196139
IQGAP1 IQ motif containing GTPase activating protein 1 0.194865
NKX2-2 NK2 homeobox 2 0.188938
LAMC3 laminin, gamma 3 0.185612
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 0.183835
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) 0.16933
CALM3 calmodulin 3 (phosphorylase kinase, delta) 0.167915
CALM2 calmodulin 2 (phosphorylase kinase, delta) 0.167452
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 0.166095
RIPK4 receptor-interacting serine-threonine kinase 4 0.164359
CALM1 calmodulin 1 (phosphorylase kinase, delta) 0.164149