Neural Tube Defects Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of or development of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) (Mammalian Phenotype Ontology, MP_0002151)
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Genes

73 genes associated with the Neural Tube Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ADA adenosine deaminase
ADRB3 adrenoceptor beta 3
BHMT betaine--homocysteine S-methyltransferase
BMP4 bone morphogenetic protein 4
CBS cystathionine-beta-synthase
CCL2 chemokine (C-C motif) ligand 2
CD320 CD320 molecule
CDKN2A cyclin-dependent kinase inhibitor 2A
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CHKA choline kinase alpha
COMT catechol-O-methyltransferase
CUBN cubilin (intrinsic factor-cobalamin receptor)
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
DHFR dihydrofolate reductase
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DVL1 dishevelled segment polarity protein 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
FBN1 fibrillin 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOLR1 folate receptor 1 (adult)
FOLR2 folate receptor 2 (fetal)
FTO fat mass and obesity associated
FZD3 frizzled class receptor 3
FZD6 frizzled class receptor 6
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
GCH1 GTP cyclohydrolase 1
ITPK1 inositol-tetrakisphosphate 1-kinase
LEP leptin
LMNB1 lamin B1
MSX2 msh homeobox 2
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUT methylmalonyl CoA mutase
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NOG noggin
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
PARD3 par-3 family cell polarity regulator
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PEMT phosphatidylethanolamine N-methyltransferase
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PRICKLE1 prickle homolog 1 (Drosophila)
PRKACB protein kinase, cAMP-dependent, catalytic, beta
PTCH1 patched 1
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
RFC1 replication factor C (activator 1) 1, 145kDa
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SHMT2 serine hydroxymethyltransferase 2 (mitochondrial)
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1
T T, brachyury homolog (mouse)
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TCN2 transcobalamin II
TERC telomerase RNA component
TP53 tumor protein p53
TXN2 thioredoxin 2
TYMS thymidylate synthetase
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
ZIC1 Zic family member 1
ZIC2 Zic family member 2
ZIC3 Zic family member 3