Spina Bifida Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0917813
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Genes

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

Symbol Name
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACTB actin, beta
ACTL6A actin-like 6A
ACTL6B actin-like 6B
AFP alpha-fetoprotein
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALDH1L1 aldehyde dehydrogenase 1 family, member L1
ALX1 ALX homeobox 1
AMER1 APC membrane recruitment protein 1
ANKEF1 ankyrin repeat and EF-hand domain containing 1
APAF1 apoptotic peptidase activating factor 1
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOB apolipoprotein B
APOE apolipoprotein E
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARSA arylsulfatase A
B3GLCT beta 3-glucosyltransferase
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BDNF brain-derived neurotrophic factor
BHMT betaine--homocysteine S-methyltransferase
BHMT2 betaine--homocysteine S-methyltransferase 2
BMP1 bone morphogenetic protein 1
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMS1 BMS1 ribosome biogenesis factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CCDC88A coiled-coil domain containing 88A
CCL2 chemokine (C-C motif) ligand 2
CD200 CD200 molecule
CD200R1 CD200 receptor 1
CD38 CD38 molecule
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CFL1 cofilin 1 (non-muscle)
CHKA choline kinase alpha
CHN1 chimerin 1
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLIP2 CAP-GLY domain containing linker protein 2
COL1A1 collagen, type I, alpha 1
COL25A1 collagen, type XXV, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COLEC10 collectin sub-family member 10 (C-type lectin)
COLEC11 collectin sub-family member 11
COMT catechol-O-methyltransferase
CRABP2 cellular retinoic acid binding protein 2
CREBBP CREB binding protein
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CUBN cubilin (intrinsic factor-cobalamin receptor)
CUL7 cullin 7
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DHFR dihydrofolate reductase
DLC1 DLC1 Rho GTPase activating protein
DLL3 delta-like 3 (Drosophila)
DLL4 delta-like 4 (Drosophila)
DPF2 D4, zinc and double PHD fingers family 2
DPP4 dipeptidyl-peptidase 4
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
ELN elastin
EP300 E1A binding protein p300
EPHA4 EPH receptor A4
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
FAM58A family with sequence similarity 58, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAP fibroblast activation protein, alpha
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FKBP8 FK506 binding protein 8, 38kDa
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLNB filamin B, beta
FLT4 fms-related tyrosine kinase 4
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOLR1 folate receptor 1 (adult)
FOLR2 folate receptor 2 (fetal)
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOXN1 forkhead box N1
FUZ fuzzy planar cell polarity protein
FZD3 frizzled class receptor 3
GCKR glucokinase (hexokinase 4) regulator
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GFAP glial fibrillary acidic protein
GLI2 GLI family zinc finger 2
GNAS GNAS complex locus
GPC5 glypican 5
GPR161 G protein-coupled receptor 161
GPR63 G protein-coupled receptor 63
GRHL2 grainyhead-like 2 (Drosophila)
GRHL3 grainyhead-like 3 (Drosophila)
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H2AX H2A.X variant histone
HAAO 3-hydroxyanthranilate 3,4-dioxygenase
HES7 hes family bHLH transcription factor 7
HK1 hexokinase 1
HLA-DRB4 major histocompatibility complex, class II, DR beta 4
HMOX1 heme oxygenase 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL13 interleukin 13
IL18 interleukin 18
IRF6 interferon regulatory factor 6
ISYNA1 inositol-3-phosphate synthase 1
ITPK1 inositol-tetrakisphosphate 1-kinase
JARID2 jumonji, AT rich interactive domain 2
JUN jun proto-oncogene
JUNB jun B proto-oncogene
JUND jun D proto-oncogene
KAT2A K(lysine) acetyltransferase 2A
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KIF22 kinesin family member 22
LAMC2 laminin, gamma 2
LEP leptin
LEPR leptin receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNB1 lamin B1
LMX1B LIM homeobox transcription factor 1, beta
LOC102724560 cystathionine beta-synthase
LRP6 low density lipoprotein receptor-related protein 6
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MEFV Mediterranean fever
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGMT O-6-methylguanine-DNA methyltransferase
MMP2 matrix metallopeptidase 2
MSX2 msh homeobox 2
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NEK9 NIMA-related kinase 9
NGF nerve growth factor (beta polypeptide)
NKX2-8 NK2 homeobox 8
NNMT nicotinamide N-methyltransferase
NOS3 nitric oxide synthase 3 (endothelial cell)
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PALB2 partner and localizer of BRCA2
PAX1 paired box 1
PAX3 paired box 3
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PCSK9 proprotein convertase subtilisin/kexin type 9
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PGPEP1 pyroglutamyl-peptidase I
PHGDH phosphoglycerate dehydrogenase
PKD2L1 polycystic kidney disease 2-like 1
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
PON1 paraoxonase 1
PORCN porcupine homolog (Drosophila)
PRCP prolylcarboxypeptidase (angiotensinase C)
PRICKLE2 prickle homolog 2 (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
PTCH2 patched 2
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
RAB11FIP3 RAB11 family interacting protein 3 (class II)
RAB23 RAB23, member RAS oncogene family
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RFC1 replication factor C (activator 1) 1, 145kDa
RFC2 replication factor C (activator 1) 2, 40kDa
RFWD3 ring finger and WD repeat domain 3
RIPPLY2 ripply transcriptional repressor 2
RNF2 ring finger protein 2
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
SALL4 spalt-like transcription factor 4
SARDH sarcosine dehydrogenase
SCRIB scribbled planar cell polarity protein
SKI SKI proto-oncogene
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC5A11 solute carrier family 5 (sodium/inositol cotransporter), member 11
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLX4 SLX4 structure-specific endonuclease subunit
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SOX11 SRY (sex determining region Y)-box 11
SOX3 SRY (sex determining region Y)-box 3
SOX4 SRY (sex determining region Y)-box 4
SP1 Sp1 transcription factor
SUFU suppressor of fused homolog (Drosophila)
SUZ12 SUZ12 polycomb repressive complex 2 subunit
T T, brachyury homolog (mouse)
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX6 T-box 6
TGFB1 transforming growth factor, beta 1
TGIF1 TGFB-induced factor homeobox 1
TIMP2 TIMP metallopeptidase inhibitor 2
TNIP1 TNFAIP3 interacting protein 1
TNXB tenascin XB
TP53 tumor protein p53
TRAF4 TNF receptor-associated factor 4
TRDMT1 tRNA aspartic acid methyltransferase 1
TRIM26 tripartite motif containing 26
TRIM36 tripartite motif containing 36
TTC21B tetratricopeptide repeat domain 21B
TXN2 thioredoxin 2
TYMS thymidylate synthetase
UBE2T ubiquitin-conjugating enzyme E2T
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UTS2R urotensin 2 receptor
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
VSIR V-set immunoregulatory receptor
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
ZIC1 Zic family member 1
ZIC2 Zic family member 2