Spinal Dysraphism Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_1089)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D016135
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Genes

152 genes/proteins associated with the disease Spinal Dysraphism from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
CHKA choline kinase alpha 2.88009
TXN2 thioredoxin 2 2.88009
PAX3 paired box 3 2.88009
VANGL2 VANGL planar cell polarity protein 2 2.88009
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 2.88009
CFL1 cofilin 1 (non-muscle) 2.88009
FGFR2 fibroblast growth factor receptor 2 2.88009
CCL2 chemokine (C-C motif) ligand 2 2.88009
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 2.88009
PCYT1A phosphate cytidylyltransferase 1, choline, alpha 2.88009
PON1 paraoxonase 1 2.88009
G6PC glucose-6-phosphatase, catalytic subunit 1.46488
MYC v-myc avian myelocytomatosis viral oncogene homolog 1.45537
TP53 tumor protein p53 1.35962
CASP7 caspase 7, apoptosis-related cysteine peptidase 1.35184
HSPA8 heat shock 70kDa protein 8 1.33672
WNT1 wingless-type MMTV integration site family, member 1 1.31596
ALDH1A1 aldehyde dehydrogenase 1 family, member A1 1.30788
RGS2 regulator of G-protein signaling 2 1.30788
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 1.30269
GPX2 glutathione peroxidase 2 1.30087
TNF tumor necrosis factor 1.27966
ME1 malic enzyme 1, NADP(+)-dependent, cytosolic 1.27162
TKT transketolase 1.26144
RAD50 RAD50 homolog (S. cerevisiae) 1.25152
HMOX1 heme oxygenase 1 1.24997
CAT catalase 1.24623
NOS2 nitric oxide synthase 2, inducible 1.23743
FZD5 frizzled class receptor 5 1.21951
GADD45A growth arrest and DNA-damage-inducible, alpha 1.21337
NR1I2 nuclear receptor subfamily 1, group I, member 2 1.2059
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 1.19933
COL1A1 collagen, type I, alpha 1 1.1977
VCAM1 vascular cell adhesion molecule 1 1.19607
BCL2 B-cell CLL/lymphoma 2 1.18981
APOA1 apolipoprotein A-I 1.18783
CXCL8 chemokine (C-X-C motif) ligand 8 1.18489
RHOB ras homolog family member B 1.18456
TLR4 toll-like receptor 4 1.18424
GM2A GM2 ganglioside activator 1.18391
BMP4 bone morphogenetic protein 4 1.1753
HIST3H3 histone cluster 3, H3 1.17
EIF4A2 eukaryotic translation initiation factor 4A2 1.16967
PDGFA platelet-derived growth factor alpha polypeptide 1.16633
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 1.16633
AXIN2 axin 2 1.166
NQO1 NAD(P)H dehydrogenase, quinone 1 1.166
PPARG peroxisome proliferator-activated receptor gamma 1.16567
DUSP1 dual specificity phosphatase 1 1.16401
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 1.1607
ZBTB16 zinc finger and BTB domain containing 16 1.15933
GSTA1 glutathione S-transferase alpha 1 1.15458
GRB10 growth factor receptor-bound protein 10 1.1529
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) 1.15223
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 1.15223
GLUL glutamate-ammonia ligase 1.15055
MAPK3 mitogen-activated protein kinase 3 1.14885
CSRP1 cysteine and glycine-rich protein 1 1.14336
FOXA2 forkhead box A2 1.1403
MAPK1 mitogen-activated protein kinase 1 1.1403
PTPRF protein tyrosine phosphatase, receptor type, F 1.1403
IL6 interleukin 6 1.13689
JUN jun proto-oncogene 1.13177
CYR61 cysteine-rich, angiogenic inducer, 61 1.1294
SRXN1 sulfiredoxin 1 1.12805
CCND1 cyclin D1 1.12737
ANXA1 annexin A1 1.12634
ACHE acetylcholinesterase (Yt blood group) 1.12599
DIRC2 disrupted in renal carcinoma 2 1.12564
MXD1 MAX dimerization protein 1 1.12564
LMO1 LIM domain only 1 (rhombotin 1) 1.12564
AFP alpha-fetoprotein 1.12323
BAX BCL2-associated X protein 1.12288
GSR glutathione reductase 1.12014
INSIG1 insulin induced gene 1 1.12014
PARP1 poly (ADP-ribose) polymerase 1 1.11877
NCF1 neutrophil cytosolic factor 1 1.11151
WNT5A wingless-type MMTV integration site family, member 5A 1.10907
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) 1.10872
GPX1 glutathione peroxidase 1 1.10769
ADCY1 adenylate cyclase 1 (brain) 1.10631
E2F1 E2F transcription factor 1 1.10424
TGIF1 TGFB-induced factor homeobox 1 1.10388
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 1.10175
CCNA1 cyclin A1 1.1014
HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 1.09998
GSTM3 glutathione S-transferase mu 3 (brain) 1.09998
SPTBN1 spectrin, beta, non-erythrocytic 1 1.09857
GATA6 GATA binding protein 6 1.09857
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 1.09576
ATM ATM serine/threonine kinase 1.09576
GSK3B glycogen synthase kinase 3 beta 1.09401
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) 1.09262
BCL2L1 BCL2-like 1 1.0894
POU3F1 POU class 3 homeobox 1 1.08868
NEDD9 neural precursor cell expressed, developmentally down-regulated 9 1.08833
SOD1 superoxide dismutase 1, soluble 1.08762
WNT2B wingless-type MMTV integration site family, member 2B 1.08266
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 1.08231
SMAD7 SMAD family member 7 1.08126
S100A10 S100 calcium binding protein A10 1.08126
KLHL7 kelch-like family member 7 1.07875
MEIS1 Meis homeobox 1 1.07804
DVL1 dishevelled segment polarity protein 1 1.07732
CBS cystathionine-beta-synthase 1.07199
DKK1 dickkopf WNT signaling pathway inhibitor 1 1.06734
CUL4A cullin 4A 1.06734
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 1.06661
MT1A metallothionein 1A 1.06552
SLC38A1 solute carrier family 38, member 1 1.06261
IGFBP3 insulin-like growth factor binding protein 3 1.06261
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 1.06261
TENM3 teneurin transmembrane protein 3 1.06188
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 1.06152
GSTO1 glutathione S-transferase omega 1 1.0608
MARCKS myristoylated alanine-rich protein kinase C substrate 1.05864
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 1.05721
MEIS2 Meis homeobox 2 1.05349
PIM1 Pim-1 proto-oncogene, serine/threonine kinase 1.04978
FNTB farnesyltransferase, CAAX box, beta 1.04868
GSTM1 glutathione S-transferase mu 1 1.04647
LIN28A lin-28 homolog A (C. elegans) 1.04389
UNG uracil-DNA glycosylase 1.04352
TAF9B TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa 1.04314
TGFB3 transforming growth factor, beta 3 1.04126
APP amyloid beta (A4) precursor protein 1.04126
KLF13 Kruppel-like factor 13 1.03827
GCLC glutamate-cysteine ligase, catalytic subunit 1.03827
S100A4 S100 calcium binding protein A4 1.03789
CD36 CD36 molecule (thrombospondin receptor) 1.03752
EPAS1 endothelial PAS domain protein 1 1.03715
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1.03271
AR androgen receptor 1.02933
ATF2 activating transcription factor 2 1.02933
IL1A interleukin 1, alpha 1.02821
CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1 1.02596
FTL ferritin, light polypeptide 1.02522
TFRC transferrin receptor 1.02299
SMAD6 SMAD family member 6 1.02114
CEBPB CCAAT/enhancer binding protein (C/EBP), beta 1.0204
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 1.01966
INSR insulin receptor 1.01625
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) 1.01587
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 1.01512
DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1 1.01437
IGF1 insulin-like growth factor 1 (somatomedin C) 1.01399
GAS7 growth arrest-specific 7 1.01324
L1CAM L1 cell adhesion molecule 1.01286
F2R coagulation factor II (thrombin) receptor 1.01212
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 1.01212
CASP3 caspase 3, apoptosis-related cysteine peptidase 1.01062
DAXX death-domain associated protein 1.01062