Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2 		0.600 Biomarker group GENOMICS_ENGLAND
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1 		0.600 Biomarker group GENOMICS_ENGLAND
Entrez Id: 80199
Gene Symbol: FUZ
FUZ 		0.590 Biomarker group GENOMICS_ENGLAND
Entrez Id: 80199
Gene Symbol: FUZ
FUZ 		0.590 Biomarker group CTD_human
Entrez Id: 5754
Gene Symbol: PTK7
PTK7 		0.330 Biomarker group GENOMICS_ENGLAND
Entrez Id: 57619
Gene Symbol: SHROOM3
SHROOM3 		0.330 Biomarker group GENOMICS_ENGLAND
Entrez Id: 6862
Gene Symbol: TBXT
TBXT 		0.310 Biomarker group CTD_human
Entrez Id: 6347
Gene Symbol: CCL2
CCL2 		0.310 Biomarker group CTD_human
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1 		0.100 Biomarker group HPO
Entrez Id: 999
Gene Symbol: CDH1
CDH1 		0.100 Biomarker group HPO
Entrez Id: 5075
Gene Symbol: PAX1
PAX1 		0.050 GeneticVariation group BEFREE 2-4), whereas mutant forms of Pax-1 that have been associated with NTDs cause deregulated activation of the human PDGFRA promoter. 11175793 2001
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA 		0.060 AlteredExpression group BEFREE 2-4), whereas mutant forms of Pax-1 that have been associated with NTDs cause deregulated activation of the human PDGFRA promoter. 11175793 2001
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.400 GeneticVariation group BEFREE 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. 8826441 1996
Entrez Id: 174
Gene Symbol: AFP
AFP 		0.100 Biomarker group BEFREE Neural tube defects are associated with an increase of AFP in amniotic fluid, but, as in normal pregnancies, the values decrease with increasing gestational age. 84722 1979
Entrez Id: 65108
Gene Symbol: MARCKSL1
MARCKSL1 		0.020 Biomarker group BEFREE MRP deficiency leads to neural tube defects in brain development; MARCKS overexpression strongly depresses the proliferation of cancer cells. 10736562 2000
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1 		0.010 Biomarker group BEFREE MRP deficiency leads to neural tube defects in brain development; MARCKS overexpression strongly depresses the proliferation of cancer cells. 10736562 2000
Entrez Id: 79971
Gene Symbol: WLS
WLS 		0.010 Biomarker group BEFREE MRP deficiency leads to neural tube defects in brain development; MARCKS overexpression strongly depresses the proliferation of cancer cells. 10736562 2000
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.400 GeneticVariation group BEFREE Methylenetetrahydrofolate reductase (MTHFR) mutations are commonly associated with hyperhomocysteinemia, and, through their defects in homocysteine metabolism, they have been implicated as risk factors for neural tube defects and unexplained, recurrent embryo losses in early pregnancy. 10958762 2000
Entrez Id: 4674
Gene Symbol: NAP1L2
NAP1L2 		0.010 AlteredExpression group BEFREE NAP1L2/Nap1l2 expression may therefore depend on the genetic-environmental factors that are frequently associated with NTDs. 12116227 2002
Entrez Id: 4552
Gene Symbol: MTRR
MTRR 		0.100 AlteredExpression group BEFREE MTRR, combined with a low level of vitamin B12, increases the risk of NTD and of having a child with NTD in Canada, while TCN 776 GG and MTRR 66 GG mutated genotypes associated with the MTHFR 677 CC wild-type are predictors of NTD cases in Sicily. 14656028 2003
Entrez Id: 7298
Gene Symbol: TYMS
TYMS 		0.030 GeneticVariation group BEFREE TYMS polymorphism appears to be not universally associated with NTD risk across Caucasian samples. 15259039 2004
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		0.050 GeneticVariation group BEFREE TCII genotypes were determined for more than 300 Irish NTD families and a comparable number of Irish controls. 15782407 2005
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		0.050 GeneticVariation group LHGDN TCII genotypes were determined for more than 300 Irish NTD families and a comparable number of Irish controls. 15782407 2005
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1 		0.400 Biomarker group BEFREE Folate binding protein 1 (Folr1) knockout mice with low maternal folate concentrations have been shown to be excellent animal models for human folate-responsive neural tube defects (NTDs). 16256389 2006
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.400 GeneticVariation group LHGDN MTHFR 677C-->T and 1298A-->C polymorphisms: evaluation of maternal genotypic risk and association with level of neural tube defect. 17085942 2007