Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.300 SusceptibilityMutation disease ORPHANET Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele. 22241680 2012
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2 		0.300 SusceptibilityMutation disease ORPHANET Contribution of VANGL2 mutations to isolated neural tube defects. 20738329 2011
Entrez Id: 80199
Gene Symbol: FUZ
FUZ 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 21840926 2011
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1 		0.300 SusceptibilityMutation disease ORPHANET Novel mutations in VANGL1 in neural tube defects. 19319979 2009
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1 		0.300 SusceptibilityMutation disease ORPHANET Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		0.300 SusceptibilityMutation disease ORPHANET 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: 6862
Gene Symbol: TBXT
TBXT 		0.300 SusceptibilityMutation disease ORPHANET The human T locus and spina bifida risk. 15449172 2004