Disease Term Disease ID Gene Symbol References
Congenital central hypoventilation C1275808 ASCL1
BDNF 30643666, 11840487, 15657604, 23649659
EDN3 9359047, 8696331
GDNF 9497256
PAH
RET 9497256, 12086152, 14566559
PHOX2B 14608649, 14566559, 12640453, 16691592, 15657873, 20208042, 26063465, 15334515, 15024693
MYO1H 28779001