Disease Term Disease ID Gene Symbol References
Limb Deformities, Congenital C0206762 CACNA1C 15454078
CHUK 20961246, 10195896, 10346820, 10195895
COL11A2 16637051
HAPLN1 9988279
FGFR2 10631169
HOXA11 7596412
HOXD11 7925020, 7596412, 8620844
HOXD12 19108020, 8620844
HOXD13 8620844
IRF6 17041601
SALL1 9425907, 16088922
TBX3 9207801
TGFB2 9217007
TP63 10227294
GPC6 19481194
SALL4 30067223
MIR17HG 21892160