Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6347
Gene Symbol: CCL2
CCL2 		0.300 Biomarker disease CTD_human
Entrez Id: 80199
Gene Symbol: FUZ
FUZ 		0.300 Biomarker disease CTD_human
Entrez Id: 6862
Gene Symbol: TBXT
TBXT 		0.300 Biomarker disease CTD_human
Entrez Id: 5754
Gene Symbol: PTK7
PTK7 		0.010 Biomarker disease BEFREE Protein tyrosine kinase 7 (Ptk7) was shown to cause a very severe form of NTDs called craniorachischisis in a mouse model and genetically interacts with a core PCP member Vangl2 where double heterozygotes suffer from spina bifida. 26368655 2015
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		0.300 Biomarker disease CTD_human A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. 12384833 2002
Entrez Id: 3630
Gene Symbol: INS
INS 		0.300 Therapeutic disease CTD_human Arsenate-induced maternal glucose intolerance and neural tube defects in a mouse model. 19446573 2009
Entrez Id: 2350
Gene Symbol: FOLR2
FOLR2 		0.300 Biomarker disease CTD_human Arsenic-induced congenital malformations in genetically susceptible folate binding protein-2 knockout mice. 11749123 2001
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.300 Biomarker disease CTD_human Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case-control studies. 23056169 2012
Entrez Id: 1544
Gene Symbol: CYP1A2
CYP1A2 		0.300 Biomarker disease CTD_human Caffeine, selected metabolic gene variants, and risk for neural tube defects. 20641098 2010
Entrez Id: 10
Gene Symbol: NAT2
NAT2 		0.300 Biomarker disease CTD_human Caffeine, selected metabolic gene variants, and risk for neural tube defects. 20641098 2010
Entrez Id: 27443
Gene Symbol: CECR2
CECR2 		0.300 Biomarker disease CTD_human CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. 15640247 2005
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		0.300 Biomarker disease CTD_human Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. 16552426 2006
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2 		0.350 Biomarker disease CTD_human Cranial effects of retinoic acid in the loop-tail (Lp) mutant mouse. 2373757 1990
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3 		0.300 Biomarker disease CTD_human Differential response of heterozygous curly-tail mouse embryos to vitamin A teratogenesis depending on maternal genotype. 6635991 1983
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		0.300 Biomarker disease CTD_human Effect of arsenite, maternal age, and embryonic sex on spina bifida, exencephaly, and resorption rates in the splotch mouse. 12854658 2003
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		0.300 Therapeutic disease CTD_human Effect of arsenite, maternal age, and embryonic sex on spina bifida, exencephaly, and resorption rates in the splotch mouse. 12854658 2003
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		0.300 Biomarker disease CTD_human Exencephaly induction by valproic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn. 16359493 2005
Entrez Id: 5652
Gene Symbol: PRSS8
PRSS8 		0.300 Therapeutic disease CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
Entrez Id: 10653
Gene Symbol: SPINT2
SPINT2 		0.300 Biomarker disease CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
Entrez Id: 4886
Gene Symbol: NPY1R
NPY1R 		0.300 Biomarker disease CTD_human Gastrointestinal hormones (anorexigenic peptide YY and orexigenic ghrelin) influence neural tube development. 17400914 2007
Entrez Id: 5697
Gene Symbol: PYY
PYY 		0.300 Biomarker disease CTD_human Gastrointestinal hormones (anorexigenic peptide YY and orexigenic ghrelin) influence neural tube development. 17400914 2007
Entrez Id: 51738
Gene Symbol: GHRL
GHRL 		0.300 Therapeutic disease CTD_human Gastrointestinal hormones (anorexigenic peptide YY and orexigenic ghrelin) influence neural tube development. 17400914 2007
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		0.300 Biomarker disease CTD_human Histological comparison of the effects of the splotch gene and retinoic acid on the closure of the mouse neural tube. 3293260 1988
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		0.300 Therapeutic disease CTD_human Histological comparison of the effects of the splotch gene and retinoic acid on the closure of the mouse neural tube. 3293260 1988
Entrez Id: 5547
Gene Symbol: PRCP
PRCP 		0.020 GeneticVariation disease BEFREE Homozygous disruption of PCP genes in mice results in a spectrum of NTDs, including defects that affect the entire neural axis (craniorachischisis), cranial NTDs (exencephaly) and spina bifida. 21840926 2011