Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
0.400 GeneticVariation group BEFREE MTHFR 677C-->T and 1298A-->C polymorphisms: evaluation of maternal genotypic risk and association with level of neural tube defect. 17085942 2007
Entrez Id: 5697
Gene Symbol: PYY
PYY
0.300 Biomarker group CTD_human PYY Y1 receptor antagonist prevented the occurrence of NTD induced not only by PYY but also by vitamin A, a well-known teratogen in humans and animals. 17400914 2007
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
0.400 GeneticVariation group BEFREE MTHFR C677T polymorphism and hyperhomocysteinemia have been associated with congenital malformations of the heart and neural tube defects. 17510921 2007
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
0.010 GeneticVariation group BEFREE FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. 18339010 2008
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
0.600 GeneticVariation group BEFREE VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish. 20043994 2011
Entrez Id: 51293
Gene Symbol: CD320
CD320
0.010 GeneticVariation group BEFREE TCblR rs2336573 (rs2336573" genes_norm="51293">G220R) and TCblR rs9426 represent a significant risk factor in NTD cases in the Irish population. 20577008 2010
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
0.400 GeneticVariation group BEFREE Methylenetetrahydrofolate reductase gene polymorphisms and neural tube defects epidemiology in the Slovak population. 20672355 2010
Entrez Id: 84678
Gene Symbol: KDM2B
KDM2B
0.010 AlteredExpression group BEFREE Fbxl10 mRNA is specifically expressed in the cranial neural folds at E8.5 embryos, and apoptosis increased in the neuroepithelium and mesenchyme of Fbxl10-deficient E9.5 embryos, consistent with neural tube defects found in Fbxl10-deficient mice. 21220025 2011
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
0.020 GeneticVariation group BEFREE Grhl2 loss of function mutant mice were generated and displayed both cranial and spinal NTDs. 21262862 2011
Entrez Id: 8726
Gene Symbol: EED
EED
0.010 Biomarker group BEFREE Embryonic ectoderm development protein is regulated by microRNAs in human neural tube defects. 21497788 2011
Entrez Id: 2346
Gene Symbol: FOLH1
FOLH1
0.060 GeneticVariation group BEFREE Glutamate carboxypeptidase II gene polymorphisms and neural tube defects in a high-risk Chinese population. 22124883 2012
Entrez Id: 406989
Gene Symbol: MIR206
MIR206
0.010 AlteredExpression group BEFREE MiR-206 was characterized previously as a differentially expressed gene in sodium arsenite (SA)-induced neural tube defects (NTDs) in chick embryos via miRNA microarray analysis. 22508046 2012
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
0.030 Biomarker group BEFREE Zic3 null mice recapitulate the human heterotaxy phenotype but also have early gastrulation defects, axial patterning defects and neural tube defects complicating an assessment of the role of Zic3 in cardiac development. 23303524 2013
Entrez Id: 727
Gene Symbol: C5
C5
0.010 Biomarker group BEFREE C5a receptor signaling prevents folate deficiency-induced neural tube defects in mice. 23420882 2013
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE MTHFD1 p.R653Q has been proposed as a risk factor for neural tube defects (NTDs), congenital heart defects (CHDs) and pregnancy losses. 23704330 2013
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
0.090 GeneticVariation group BEFREE Cystathionine beta-synthase 844ins68 polymorphism is unrelated to susceptibility to neural tube defects. 24316487 2014
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation group BEFREE 5-Methyltetrahydrofolate-homocysteine methyltransferase (MTHM) 501A>G in case of GDM, and betaine-homocysteine methyltransferase (BHMT) 716G>A in case of no folate supplementation significantly associated with NTDs (both P<.05), whereas the two genotypes alone did not significantly associate with NTDs (both P>.05). 24326202 2014
Entrez Id: 1312
Gene Symbol: COMT
COMT
0.030 PosttranslationalModification group BEFREE Catechol-O-methyltransferase (COMT) may be involved in the metabolism of polyphenolic methylation of tea, thus influence the risk of fetal NTDs. 24382678 2014
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
0.010 Biomarker group BEFREE GLI2 is a key mediator of the sonic hedgehog (Shh) signaling pathway and plays an important role in neural tube development during vertebrate embryogenesis; however, the role of gli2 in human folate-related neural tube defects remains unclear. 26446020 2016
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
0.400 Biomarker group BEFREE Folr1 knockdown in neural plate cells only is necessary and sufficient to induce NTDs. 28255006 2017
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
0.400 GeneticVariation group BEFREE PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. 28686331 2017
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.310 Biomarker group BEFREE CSF proteins may be useful in the discovery of potential serum biomarkers for NTDs. 28695418 2017
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.010 Biomarker group BEFREE CSF proteins may be useful in the discovery of potential serum biomarkers for NTDs. 28695418 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
0.400 GeneticVariation group BEFREE MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95). 30474229 2019
Entrez Id: 1749
Gene Symbol: DLX5
DLX5
0.010 AlteredExpression group BEFREE Dlx5/6-inactivation in the mouse results in a phenotype reminiscent of NTDs characterized by open thoracic and lumbar vertebral arches and failure of epaxial muscle formation at the dorsal midline. 30889190 2019