Table 1: Genes Associated with PAH

	Gene	Location	OMIM	Prevalence	Inheritance mode	Gene function	Related diseases	References
BMPR2	NM_001204.6	2q33.1 - q33.2	600799	in ~70 % of HPAH and ~10-40 % of IPAH cases^14	AD	inhibiting the proliferation of vascular smooth muscle cells	HPAH,IPAH	[25-37]
SMAD4	NM_005359.5	18q21.2	600993	Rare	AD	cell differentiation, apoptosis, and embryonic development	PAH	[43]
SMAD8/SMAD9	NM_005905.5	13q13.3	603295	Rare	AD	pulmonary vascular remodelling	PAH	[41,42]
BMP9/GDF2	NM_0016204.1	10q11.22	605120	Rare	AD	cell apoptosis, proliferation, differentiation, migration, and angiogenesis	HHT,PAH	[61,62,65,66]
ACVRL1/ALK-1	NM_001077401.1	12q13.13	601284	Rare	AD	normal blood vessel development	HHT2,PAH	[53-57]
ENG	NM_001114753.2	9q34.11	131195	Rare	AD	Proliferation associated antigen, regulating angiogenesis.	HHT1,PAH	[58,59]
CAV1	NM_001753.4	7q31.2	601047	Rare	AD	formation of caveolae	IPAH	[74-76]
TOPBP1	NM_007027.3	3q22.1	607760	Rare	AD	DNA damage response and cell survival	HPAH,IPAH	[77,78]
KCNA5	NM_002234.3	12p13.32	176267	Rare	AD	forms functional voltage-gated Kv channels in human PASMCs	HPAH,IPAH	[84]
KCNK3	NM_002246.2	2p23.3	603220	Rare	AD	regulation of vascular remodelling and vascular proliferation	HPAH,IPAH	[21,82,83]
NOTCH1	NM_017617.3	9q34.3	190198	Rare	AD	critical for vascular	Adams-Oliver syndrome (AOS)	[102-105]
NOTCH3	NM_000435.2	19p13.12	600276	Rare	AD	development	PAH	[96-99]
EIF2AK4	NM_001013703.3	15q15.1	609280	Rare	AR	vascular cell proliferation and remodelling of lung vessels	Pulmonary veno-occlusive disease (PVOD)	[86-88]