Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.010 GeneticVariation group BEFREE The aim of this study was to find the association between TFAP2A intronic SNP rs3439413 and NTDs and to explore its function. 31020390 2019
Entrez Id: 23432
Gene Symbol: GPR161
GPR161 		0.010 GeneticVariation group BEFREE Our results demonstrate that GPR161 mutations cause NTDs via dysregulation of Shh and Wnt signaling in mice, and novel rare variants of GPR161 can be risk factors for SB in humans. 30256984 2019
Entrez Id: 8364
Gene Symbol: H4C3
H4C3 		0.010 Biomarker group BEFREE Finally, we used LC-ESI-MS and WB to compare whether histone H4 acetylation was different in NTDs. 31612645 2019
Entrez Id: 8360
Gene Symbol: H4C4
H4C4 		0.010 Biomarker group BEFREE Finally, we used LC-ESI-MS and WB to compare whether histone H4 acetylation was different in NTDs. 31612645 2019
Entrez Id: 8366
Gene Symbol: H4C2
H4C2 		0.010 Biomarker group BEFREE Finally, we used LC-ESI-MS and WB to compare whether histone H4 acetylation was different in NTDs. 31612645 2019
Entrez Id: 56603
Gene Symbol: CYP26B1
CYP26B1 		0.010 GeneticVariation group BEFREE Functional analysis indicated that the CYP26B1 NTD variants were inefficient in the degradation of RA using assays of RA-induced transcription and RA-initiated neuronal differentiation. 29297599 2018
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.010 GeneticVariation group BEFREE Possibly damaging variants were observed in SCZ: A203V, S801N in GLDC, near the atypical nonketotic hyperglycinemia causative mutations (A202V, A802V); G825D in GLDC, a potential neural tube defect causative mutation; and R253X in AMT. 29232014 2018
Entrez Id: 317
Gene Symbol: APAF1
APAF1 		0.010 Biomarker group BEFREE Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects. 29358613 2018
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		0.010 GeneticVariation group BEFREE The results of this study show that Hif-1α Pro582Ser and TGF-β3 IVS5+104 A/G SfaN1 polymorphisms may play a role in NTDs. 30672442 2018
Entrez Id: 8996
Gene Symbol: NOL3
NOL3 		0.010 AlteredExpression group BEFREE Among 84 key genes involved in programmed cell death, 13 genes, including tumor necrosis factor (Tnf), annexin A5, apoptosis inhibitor 5, Bcl2‑associated athanogene 3, baculoviral IAP repeat‑containing 3, caspase (Casp)12, Casp4, Casp8, lymphotoxin β receptor, NLR family, apoptosis inhibitory protein 2, TNF receptor superfamily (Tnfrsf)1a, TNF superfamily (Tnfs)f10 and Tnfsf12, were downregulated, whereas nucleolar protein 3 was upregulated in the RA‑induced NTD mice. 29693124 2018
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A 		0.010 GeneticVariation group BEFREE The results of this study show that Hif-1α Pro582Ser and TGF-β3 IVS5+104 A/G SfaN1 polymorphisms may play a role in NTDs. 30672442 2018
Entrez Id: 8742
Gene Symbol: TNFSF12
TNFSF12 		0.010 AlteredExpression group BEFREE Among 84 key genes involved in programmed cell death, 13 genes, including tumor necrosis factor (Tnf), annexin A5, apoptosis inhibitor 5, Bcl2‑associated athanogene 3, baculoviral IAP repeat‑containing 3, caspase (Casp)12, Casp4, Casp8, lymphotoxin β receptor, NLR family, apoptosis inhibitory protein 2, TNF receptor superfamily (Tnfrsf)1a, TNF superfamily (Tnfs)f10 and Tnfsf12, were downregulated, whereas nucleolar protein 3 was upregulated in the RA‑induced NTD mice. 29693124 2018
Entrez Id: 2694
Gene Symbol: CBLIF
CBLIF 		0.010 GeneticVariation group BEFREE In conclusion, a genotype reported in congenital GIF deficiency produces also severe forms of NTD. 28742214 2018
Entrez Id: 357
Gene Symbol: SHROOM2
SHROOM2 		0.010 GeneticVariation group BEFREE These findings provide genetic and molecular insights into the effects of rare damaging variants in SHROOM2, indicating that such variants of SHROOM2 might contribute to the risk of human NTDs. 29423651 2018
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3 		0.010 Biomarker group BEFREE Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice. 29725084 2018
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2 		0.010 AlteredExpression group BEFREE The mRNA and protein levels of downstream targets of NRF2 were downregulated in the spinal cords of NTD embryos. 30267739 2018
Entrez Id: 134549
Gene Symbol: SHROOM1
SHROOM1 		0.010 GeneticVariation group BEFREE Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort. 29423651 2018
Entrez Id: 7124
Gene Symbol: TNF
TNF 		0.010 AlteredExpression group BEFREE Among 84 key genes involved in programmed cell death, 13 genes, including tumor necrosis factor (Tnf), annexin A5, apoptosis inhibitor 5, Bcl2‑associated athanogene 3, baculoviral IAP repeat‑containing 3, caspase (Casp)12, Casp4, Casp8, lymphotoxin β receptor, NLR family, apoptosis inhibitory protein 2, TNF receptor superfamily (Tnfrsf)1a, TNF superfamily (Tnfs)f10 and Tnfsf12, were downregulated, whereas nucleolar protein 3 was upregulated in the RA‑induced NTD mice. 29693124 2018
Entrez Id: 3980
Gene Symbol: LIG3
LIG3 		0.010 GeneticVariation group BEFREE CONCLUSIONS Rs1052536 in LIG3 gene might be a potential genetic risk factor in a high-risk area of NTDs in China. 30022792 2018
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1 		0.010 Biomarker group BEFREE We detected NRF2 protein reduction and concomitant upregulation of Kelch-like ECH-associated protein 1 (KEAP1) - a cytoplasmic inhibitor of NRF2 - in the NTD group. 30267739 2018
Entrez Id: 6599
Gene Symbol: SMARCC1
SMARCC1 		0.010 GeneticVariation group BEFREE We report a monozygotic twin with severe NTDs (occipital encephalocele and myelomeningocele) and a shared de novo, likely truncating, variant in SMARCC1. 29360170 2018
Entrez Id: 2524
Gene Symbol: FUT2
FUT2 		0.010 GeneticVariation group BEFREE Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects. 28742214 2018
Entrez Id: 105371045
Gene Symbol: PERCC1
PERCC1 		0.010 GeneticVariation group BEFREE We found that intraperitoneal injection of BaP from embryonic day 7 at a dose of 250 mg kg<sup>-1</sup> induced NTDs (13.3% frequency) in ICR mice. 29309894 2018
Entrez Id: 2253
Gene Symbol: FGF8
FGF8 		0.010 Biomarker group BEFREE We also discuss the role of Cubilin as a modulator of Fgf8 signaling during embryonic development and propose that the Cubilin-Fgf8 interaction may be relevant in human pathology, including in cancer progression, heart or neural tube defects. 30295181 2018