Disease Term Disease ID Gene Symbol References
Spina Bifida C0080178 BRCA1
BRCA2
CFL1 17352815
CHKA 17184542
CREBBP
ERCC4
FANCA
FANCC
FANCD2
FANCE
FANCB
FANCF
FANCG
FGFR2 9605588
FLI1
KIF22
LMX1B
MEOX1
MTHFD1
MTHFR 27713094
MTR
MTRR
PAX3 17149730, 3902948, 6385329, 12854658
PCMT1 16256389
PCYT1A 17184542
PDGFRA 11023856
PON1 21031563
PTCH1
RAD51
RAD51C
RMRP
CCL2 16596675
SLC25A1
XRCC2
PTCH2
GDF3
BMS1
RBM8A
MAD2L2
HAAO 28792876
TXN2 19165900
PHGDH
UBE2T
PSAT1
SUFU
DLL4
FANCL
RFWD3
FANCI
TRIM36
VANGL2 21404367
FANCM
SLC25A19
PORCN
PALB2
BRIP1
SLX4
GDF6
Spina bifida aperta of cervical spine C1960883 MTHFD1 16552426
MTHFR 22241680
TBXT 15449172
VANGL2 20738329
FUZ 21840926
VANGL1 19319979, 17409324
Spina Bifida, Open C0917813 CHRNA7 22473653
GFAP 8422324