Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 6862
Gene Symbol: TBXT
TBXT 		0.300 Biomarker disease CTD_human
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: 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: 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: 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: 51339
Gene Symbol: DACT1
DACT1 		0.300 GermlineCausalMutation disease ORPHANET Identification of novel rare mutations of DACT1 in human neural tube defects. 22610794 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: 6240
Gene Symbol: RRM1
RRM1 		0.300 Biomarker disease CTD_human Ribonucleotide reductase subunit R1: a gene conferring sensitivity to valproic acid-induced neural tube defects in mice. 10716750 2000
Entrez Id: 6497
Gene Symbol: SKI
SKI 		0.300 Biomarker disease CTD_human Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. 9284043 1997
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: 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: 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: 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: 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
Entrez Id: 23513
Gene Symbol: SCRIB
SCRIB 		0.020 GeneticVariation disease BEFREE In addition, we demonstrated that the craniorachischisis mouse line-90 mutation I285K, also affected SCRIB subcellular localization. 23922697 2013
Entrez Id: 54858
Gene Symbol: PGPEP1
PGPEP1 		0.020 Biomarker disease BEFREE We conclude that missense variants in CELSR1 and SCRIB may represent a cause of CRN in humans, as in mice, with defective PCP protein trafficking to the plasma membrane a likely pathogenic mechanism. 22095531 2012
Entrez Id: 54858
Gene Symbol: PGPEP1
PGPEP1 		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
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1 		0.020 GeneticVariation disease BEFREE Rare putative mutations in the PCP genes VANGL2, SCRIB, DACT1, and CELSR1 cumulatively contributed to over 20% of cases with craniorachischisis, a rare defect; no contributing variants were found for PRICKLE1 or PTK7. 23024041 2012
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1 		0.020 GeneticVariation disease BEFREE We conclude that missense variants in CELSR1 and SCRIB may represent a cause of CRN in humans, as in mice, with defective PCP protein trafficking to the plasma membrane a likely pathogenic mechanism. 22095531 2012
Entrez Id: 23513
Gene Symbol: SCRIB
SCRIB 		0.020 GeneticVariation disease BEFREE We conclude that missense variants in CELSR1 and SCRIB may represent a cause of CRN in humans, as in mice, with defective PCP protein trafficking to the plasma membrane a likely pathogenic mechanism. 22095531 2012
Entrez Id: 649
Gene Symbol: BMP1
BMP1 		0.020 Biomarker disease BEFREE We conclude that missense variants in CELSR1 and SCRIB may represent a cause of CRN in humans, as in mice, with defective PCP protein trafficking to the plasma membrane a likely pathogenic mechanism. 22095531 2012