Disease Term Disease ID Gene Symbol References
Familial primary pulmonary hypertension C0340543 ACVRL1 24951767, 24936649, 24956016, 22632830, 26699722, 23298310
AQP1 29650961
BMPR2 26699722, 25460361, 24951767, 19555857
CAV1 22474227, 29650961
ENG 23298310, 15687131, 26699722, 15115879, 24951767
GDF2 26801773
HDAC1 22711276
KCNK3 24951767, 28388887, 23883380
SMAD1 29650961
SMAD4 29650961
SMAD9 21920918, 26387786
TBX4 27694411, 23592887, 23502781
HDAC4 22711276
HDAC5 22711276
SOX17 30044643
ATP13A3 30545973
EIF2AK4 29844075, 25512148
Idiopathic pulmonary hypertension C0152171 BMPR1B 22374147
BMPR2 26699722
KCNA5 26167679
KCNK3 28388887
SMAD1 29650961
SMAD4 29650961
SMAD9 26387786
TBX4 27694411
EIF2AK4 29844075
Pulmonary Hypertension, Primary, 1 C4552070 ACVRL1 19555857, 22632830, 26387786, 24753439, 23298310, 18159113
BMPR2 15965979, 12821254, 17641158, 28507310, 20002458, 20096498, 16717148, 11015450, 23298310, 19206171, 10973254, 18386374, 18356561, 25429696, 24936649, 29650961, 23139147, 20496075, 26387786, 18364108, 16429395, 11502704, 21801371, 20095988, 12139571, 14583445, 18159113, 25187962, 15591269, 22632830, 18792970, 21737554, 10903931, 25612240, 25460361, 18503968, 26699722, 15687131, 18221724, 15055271, 15146475, 15059534, 11115378, 23592887, 19555857, 12358323, 12045205, 23579436, 14985116, 16728714, 23675998, 19223935, 14516151, 24591673, 24132125, 20534176, 15170098
CAV1
ENG 26387786, 23298310
HDAC1 22711276
KCNK3
SMAD9
HDAC4 22711276
HDAC5 22711276
PULMONARY HYPERTENSION, PRIMARY, 2 C3888002 SMAD9 26387786, 21898662
PULMONARY HYPERTENSION, PRIMARY, 3 C3809192 CAV1 29650961, 22474227, 25898808
PULMONARY HYPERTENSION, PRIMARY, 4 C3809198 KCNK3 23883380, 28388887