Disease Term Disease ID Gene Symbol References
Tethered Cord Syndrome C0080218 NAT2 20641098
BHMT 17035141
BRAF
CREBBP
CSF2 17075842
CTNNB1
CYP1A2 20641098
EP300
FOLR1 15800851
FOLR2 11749123
GLI3 16359493
MNX1
IFNG 17075842
INS 19446573
LETM1
MTHFD1 12384833, 16552426
MTHFR 23056169
NPY1R 17400914
PAX3 12739027, 3293260, 12854658
PRSS8 24722141
PYY 17400914
RRM1 10716750
CCL2
SKI 9284043
TBXT
NSD2
NELFA
ZIC2 15136147
SPINT2 24722141
KDM1A
HAAO 28792876
CECR2 15640247
GHRL 17400914
VANGL2 2373757
GRHL3 6635991
FUZ
VANGL1 17409324, 19319979
ZIC5 15136147