Classification of pulmonary arterial hypertension genes according to level of evidence that they play a causal role in the disease
| Higher level of evidence | Lower level of evidence |
| BMPR2; EIF2AK4; TBX4; ATP13A3; GDF2; SOX17; AQP1; ACVRL1; SMAD9; ENG; KCNK3; CAV1 | SMAD4; SMAD1; KLF2; BMPR1B; KCNA5 |
Evidence includes de novo mutation, cosegregation studies, association with replication and functional studies.