Disease Term Disease ID Gene Symbol References
Rachischisis C0266508 CFL1 17352815
CHKA 17184542
FGFR2 9605588
MTHFR 27713094
PAX3 6385329, 12854658, 3902948, 17149730
PCMT1 16256389
PCYT1A 17184542
PDGFRA 11023856
PON1 21031563
CCL2 16596675
TXN2 19165900
VANGL2 21404367