Spinal Dysraphism Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_1089)
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Genes

103 genes associated with the Spinal Dysraphism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
AHCY adenosylhomocysteinase
ALDH1L1 aldehyde dehydrogenase 1 family, member L1
ALX1 ALX homeobox 1
AMD1 adenosylmethionine decarboxylase 1
AMT aminomethyltransferase
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
BHMT betaine--homocysteine S-methyltransferase
BHMT2 betaine--homocysteine S-methyltransferase 2
BRCA1 breast cancer 1, early onset
CARM1 coactivator-associated arginine methyltransferase 1
CBS cystathionine-beta-synthase
CDKN2A cyclin-dependent kinase inhibitor 2A
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CFL1 cofilin 1 (non-muscle)
CHKA choline kinase alpha
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
COMT catechol-O-methyltransferase
COQ3 coenzyme Q3 methyltransferase
CREBBP CREB binding protein
CTH cystathionine gamma-lyase
CUBN cubilin (intrinsic factor-cobalamin receptor)
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1
DHFR dihydrofolate reductase
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
EP300 E1A binding protein p300
ERCC2 excision repair cross-complementation group 2
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOLR1 folate receptor 1 (adult)
FOLR2 folate receptor 2 (fetal)
FOLR3 folate receptor 3 (gamma)
FPGS folylpolyglutamate synthase
FTCD formimidoyltransferase cyclodeaminase
GAMT guanidinoacetate N-methyltransferase
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
GGH gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)
GNMT glycine N-methyltransferase
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HLA-DRB4 major histocompatibility complex, class II, DR beta 4
HLA-DRB5 major histocompatibility complex, class II, DR beta 5
HSPA8 heat shock 70kDa protein 8
ICMT isoprenylcysteine carboxyl methyltransferase
IRF6 interferon regulatory factor 6
ITPK1 inositol-tetrakisphosphate 1-kinase
LEP leptin
LEPR leptin receptor
LRP6 low density lipoprotein receptor-related protein 6
MAT1A methionine adenosyltransferase I, alpha
MAT2A methionine adenosyltransferase II, alpha
MAT2B methionine adenosyltransferase II, beta
MGMT O-6-methylguanine-DNA methyltransferase
MSX1 msh homeobox 1
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NDOR1 NADPH dependent diflavin oxidoreductase 1
NNMT nicotinamide N-methyltransferase
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
OGG1 8-oxoguanine DNA glycosylase
PADI4 peptidyl arginine deiminase, type IV
PAX3 paired box 3
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
PON1 paraoxonase 1
PRMT1 protein arginine methyltransferase 1
PRMT2 protein arginine methyltransferase 2
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RFC1 replication factor C (activator 1) 1, 145kDa
RNMT RNA (guanine-7-) methyltransferase
SARDH sarcosine dehydrogenase
SCRIB scribbled planar cell polarity protein
SHH sonic hedgehog
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
T T, brachyury homolog (mouse)
TCN2 transcobalamin II
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TK1 thymidine kinase 1, soluble
TP53 tumor protein p53
TRDMT1 tRNA aspartic acid methyltransferase 1
TXN2 thioredoxin 2
TYMS thymidylate synthetase
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
VANGL1 VANGL planar cell polarity protein 1
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3