Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: 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: 81839
Gene Symbol: VANGL1
VANGL1
0.300 Biomarker disease CTD_human Novel mutations in VANGL1 in neural tube defects. 19319979 2009
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: 81839
Gene Symbol: VANGL1
VANGL1
0.300 Biomarker disease CTD_human Mutations in VANGL1 associated with neural-tube defects. 17409324 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: 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: 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: 3458
Gene Symbol: IFNG
IFNG
0.300 Therapeutic disease CTD_human Valproic acid-induced fetal malformations are reduced by maternal immune stimulation with granulocyte-macrophage colony-stimulating factor or interferon-gamma. 17075842 2006
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.300 Therapeutic disease CTD_human Valproic acid-induced fetal malformations are reduced by maternal immune stimulation with granulocyte-macrophage colony-stimulating factor or interferon-gamma. 17075842 2006
Entrez Id: 635
Gene Symbol: BHMT
BHMT
0.300 Biomarker disease CTD_human Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. 17035141 2006
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: 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: 2348
Gene Symbol: FOLR1
FOLR1
0.300 Biomarker disease CTD_human Role of Folbp1 in the regional regulation of apoptosis and cell proliferation in the developing neural tube and craniofacies. 15800851 2005
Entrez Id: 85416
Gene Symbol: ZIC5
ZIC5
0.300 Biomarker disease CTD_human Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives. 15136147 2004
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
0.300 Biomarker disease CTD_human Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives. 15136147 2004
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: 5077
Gene Symbol: PAX3
PAX3
0.300 Biomarker disease CTD_human Oxidant regulation of gene expression and neural tube development: Insights gained from diabetic pregnancy on molecular causes of neural tube defects. 12739027 2003
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
0.300 Therapeutic disease CTD_human Oxidant regulation of gene expression and neural tube development: Insights gained from diabetic pregnancy on molecular causes of neural tube defects. 12739027 2003
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: 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