From: Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects
Gene | Description | No. SNPs | Category* |
---|---|---|---|
ADA | Adenosine deaminase | 20 | 1 C |
AHCY | S-Adenosylhomocysteine hydrolase | 4 | 1 C |
ALDH1A2 | Aldehyde dehydrogenase 1 family, member A2 | 24 | 1A |
ALDH1L1 | Aldehyde dehydrogenase 1 family, member L1 | 35 | 1A |
AMN | Amnionless homolog (mouse) | 5 | 4 |
ARID1A | AT rich interactive domain 1A (SWI- like) | 20 | 3 |
ATIC | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | 9 | 1A |
BAT8 | HLA-B associated transcript 8 | 8 | 5 |
BHMT | Betaine-homocysteine methyltransferase1 | 12 | 1 C |
BHMT2 | Betaine-homocysteine methyltransferase2 | 2 | 1 C |
CCL2 | Chemokine (C-C motif) ligand 2 (Monocyte chemoattractant protein 1) | 6 | 5 |
CDKN2A | Cyclin-dep. kinase inhibitor 2A (melanoma, p16, inhibitor CDK4, P14arf) | 10 | 3 |
CITED2 | Cbp/p300-interacting transactivator, w. Glu/Asp-rich C-teminal domain, 2 | 6 | 3 |
COMT | Catechol-O-methyltransferase | 16 | 1 C |
CREBBP | CREB binding protein (Rubinstein-Taybi syndrome) | 22 | 3 |
CTH | Cystathionase (cystathionine gamma-lyase) | 16 | 1 C |
CUBN | Cubilin (intrinsic factor-cobalamin receptor) | 141 | 2B |
CYB5R2 | Cytochrome b5 reductase2 | 12 | 1A |
DHFR | Dihydrofolate reductase | 10 | 1A |
DMGDH | Dimethylglycine dehydrogenase | 24 | 1A |
DNMT1 | DNA cytosine 5 methyltransferase1 | 7 | 1 C |
DNMT3A | DNA cytosine 5 methyltransferase3a | 26 | 1 C |
DNMT3B | DNA cytosine 5 methyltransferase3b | 19 | 1 C |
EHMT1 | euchromatic histone methyltransferase 1 | 20 | 1 C |
ENOSF1 | Enolase superfamily member 1 | 22 | 1A |
EP300 | E1A binding protein p300 | 10 | 3 |
EPHA3 | EPH (ephrin) receptor A3 | 45 | 4 |
FOLH1 | Folylpolyglutamate hydrolase (gamma-glutamyl hydrolase, Glutamate carboxypeptidase II) | 9 | 2A |
FOLR1 | Folate receptor alpha | 7 | 2A |
FOLR2 | Folate receptor 2 (fetal) | 5 | 2A |
FOLR3 | Folate binding protein gamma and g | 8 | 2A |
FPGS | Folylpolyglutamate synthase | 4 | 2A |
FTCD | Formiminoglutamate formiminotransferase-cyclodeaminase | 17 | 1A |
FTH1 | Ferritin heavy chain | 11 | 1A |
GART | Phosphoribosylglycinamide formyltransferase/synthetase, phosphoribosylaminoimidazole synthetase | 10 | 1A |
GGH | Lysosomal gamma-glutamylhydrolase | 11 | 1A |
GIF | Intrinsic factor (gastric IF) | 4 | 2A |
GNMT | Glycine N-methyltransferase | 5 | 1 C |
GRIK5 | Glutamate receptor, ionotropic, kainate 5 | 4 | 4 |
HIF1A | Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix trx factor) | 11 | 3 |
HRMT1L2 | PRMT1 (Protein arginine methyltransferase 1) HMT1 hnRNA Mtase-like2 | 8 | 1 C |
HRMT1L3 | PRMT3, HMT1 hnRNA Mtase-like3 | 30 | 1 C |
ICMT | Isoprenylcysteine carboxyl methyltranferase | 7 | 1 C |
IRF6 | Interferon regulatory factor 6 | 11 | 3 |
LRP2 | Megalin, low density lipoprotein-related protein 2 | 75 | 2B |
LRP6 | Low density lipoprotein receptor-related protein 6 | 24 | 2B |
MAT1A | Methionine adenosyltransferase 1 | 19 | 1 C |
MAT2A | Methionine adenosyltransferase II alpha | 4 | 1 C |
MAT2B | Methionine adenosyltransferase II beta | 9 | 1 C |
MFTC | Mitochondrial folate transporter/carrier | 11 | 2A |
MMAA | Methylmalonic aciduria (cobalamin deficiency) type A | 14 | 1B |
MMAB | AdoB12 adenosyltransferase, methylmalonic aciduria type B | 7 | 1B |
MMACHC | Methylmalonic aciduria cblC type with homocystinuria (CblC compl group) | 8 | 1B |
MTHFD1 | Methylenetetrahydrofolate dehydrogenase (NADP + dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (cytosolic) | 20 | 1A |
MTHFD1L | Methylenetetrahydrofolate dehydrogenase (NADP + dependent) 1-like (Formyltetrahydrofolate synthetase domain containing 1) (mitochondrial) | 115 | 1A |
MTHFD2 | Methylenetetrahydrofolate dehydrogenase (NADP + dependent) 2, methenyltetrahydrofolate cyclohydrolase (mitochondrial) | 6 | 1A |
MTHFR | Methylenetetrahydrofolate reductase | 19 | 1A |
MTHFS | 5,10-Methenyltetrahydrofolate synthetase | 18 | 1A |
MTR | Methionine synthase | 20 | 1B |
MTRR | Methionine synthase reductase | 23 | 1B |
NDOR1 | NADPH dependent diflavin oxidoreductase 1 | 2 | 1A |
NNMT | Nicotinamide N-methyltransferase | 11 | 1 C |
NOS3 | Nitric oxide synthase 3 (endothelial cell) | 13 | 5 |
PADI4 | peptidyl arginine deiminase, type IV | 28 | 1 C |
PAX3 | Paired box gene 3 (Waardenburg syndrome 1) | 51 | 3 |
PCMT1 | Protein-L-isoaspartate (D-aspartate) O-methyltransferase | 7 | 1 C |
PDGFRA | Platelet-derived growth factor receptor alpha | 17 | 4 |
PEMT | phosphatidylethanolamine N-methyltransferase | 14 | 1 C |
PGM2 | pgm2 methionine synthase interacting protein | 19 | 1B |
PRMT8 | Protein arginine methyltransferase 8 | 54 | 1 C |
RAI1 | Retinoic acid induced 1 | 13 | 4 |
SHMT1 | Serine hydroxymethyl transferase (C) | 12 | 1A |
SHMT2 | Serine hydroxymethyl transferase (M) | 4 | 1A |
SLC19A1 | Reduced folate carrier | 4 | 2A |
T (Brachyury) | T, brachyury homolog (mouse) | 20 | 4 |
TCblR | Transcobalamin II receptor | 5 | 2B |
TCN1 | Transcobalamin I | 2 | 2B |
TCN2 | Transcobalamin II | 20 | 2B |
TFAP2A | Transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) | 16 | 3 |
TK1 | Thymidine kinase 1, soluble | 12 | 1A |
TP53 | Tumor protein 53 (Li-Fraumeni syndrombe) | 8 | 3 |
TYMS | Thymidylate synthase | 4 | 1A |