Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27443
Gene Symbol: CECR2
CECR2
0.330 GeneticVariation disease BEFREE Strain-specific modifier genes of Cecr2-associated exencephaly in mice: genetic analysis and identification of differentially expressed candidate genes. 22045912 2012
Entrez Id: 27443
Gene Symbol: CECR2
CECR2
0.330 Biomarker disease BEFREE The loss of Cecr2, which encodes a chromatin remodeling protein, has been associated with the neural tube defect (NTD) exencephaly and open eyelids in mice. 21246654 2011
Entrez Id: 27443
Gene Symbol: CECR2
CECR2
0.330 GeneticVariation disease BEFREE We previously reported that a homozygous Cecr2 mutation on a BALB/c background causes exencephaly at a frequency of 74% compared with 0% on an FVB/N background. 17623803 2007
Entrez Id: 27443
Gene Symbol: CECR2
CECR2
0.330 Biomarker disease CTD_human Mice homozygous for the Cecr2 genetrap-induced mutation show a high penetrance of the neural tube defect exencephaly, the human equivalent of anencephaly, in a strain-dependent fashion. 15640247 2005
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
0.310 GeneticVariation disease BEFREE Grainyhead-like genes represent candidates for involvement in NTDs based on the presence of SB and exencephaly in mice carrying loss-of-function alleles of Grhl2 or Grhl3. 30189017 2018
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
0.310 GeneticVariation disease BEFREE Crosses of white-spotted mice showed that homozygosity for the mutation caused tail and limb abnormalities and embryonic lethality as a result of exencephaly; these phenotypes were analogous to those found in other Pax3 mutants. 28381738 2017
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
0.310 Biomarker disease BEFREE Mutations in folate-pathway genes do not cause NTDs, except for 30% exencephaly in folate-treated Folr1. 19117321 2009
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
0.310 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: 5077
Gene Symbol: PAX3
PAX3
0.310 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
0.310 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
0.310 Biomarker disease CTD_human If arsenite produces exencephaly by inactivating the Pax3 protein, then the fact that the exencephaly rate was increased in Sp/Sp embryos with no functional Pax3 indicates that arsenite may either induce this defect through additional pathways, or may alter the response via modifier genes. 12854658 2003
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
0.310 Therapeutic disease CTD_human If arsenite produces exencephaly by inactivating the Pax3 protein, then the fact that the exencephaly rate was increased in Sp/Sp embryos with no functional Pax3 indicates that arsenite may either induce this defect through additional pathways, or may alter the response via modifier genes. 12854658 2003
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
0.310 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: 5077
Gene Symbol: PAX3
PAX3
0.310 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: 57822
Gene Symbol: GRHL3
GRHL3
0.310 Biomarker disease CTD_human Differential response of heterozygous curly-tail mouse embryos to vitamin A teratogenesis depending on maternal genotype. 6635991 1983
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: 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: 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: 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: 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