Disease Term Disease ID Gene Symbol References
Neural tube defect, folate-sensitive C1866558 MTHFD1 16552426, 9611072, 12384833
MTHFR
MTR 27604308
MTRR 27604308
Neural Tube Defects C0027794 NAT2 20641098
BHMT 17035141
CDH1
CSF2 17075842
CYP1A2 20641098
FOLR1 15800851
FOLR2 11749123
GLI3 16359493
IFNG 17075842
INS 19446573
MTHFD1 12384833, 16552426
MTHFR 23056169
NPY1R 17400914
PAX3 12854658, 3293260, 12739027
PRSS8 24722141
PYY 17400914
PTK7
RRM1 10716750
CCL2
SKI 9284043
TBXT
ZIC2 15136147
SPINT2 24722141
SETBP1
CECR2 15640247
GHRL 17400914
VANGL2 2373757
SHROOM3 25805808
GRHL3 6635991
FUZ
VANGL1 17409324, 19319979
ZIC5 15136147