Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
BMPR1B	gene	BMPR1B	Expert list;Expert Review Red	Pulmonary Arterial Hypertension		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary arterial hypertension			Pulmonary arterial hypertension;HP:0002092	22374147		False	1	0;0;100	1.39	True	Other	ENSG00000138696	ENSG00000138696	HGNC:1077													
BRAP	gene	BRAP	Expert Review Red;Literature	Pulmonary Arterial Hypertension		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary arterial hypertension			Pulmonary arterial hypertension;HP:0002092	30703135		False	1	0;100;0	1.39	True		ENSG00000089234	ENSG00000089234	HGNC:1099													
FBLN2	gene	FBLN2	Expert list;Expert Review Red	Pulmonary Arterial Hypertension		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary arterial hypertension MONDO:0015924, FBLN2-related			Pulmonary arterial hypertension;HP:0002092	33971972		False	1	0;0;100	1.39	True		ENSG00000163520	ENSG00000163520	HGNC:3601													
KLF2	gene	KLF2	Expert Review Red;Literature	Pulmonary Arterial Hypertension		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary arterial hypertension MONDO:0015924, KLF2-related			Pulmonary arterial hypertension;HP:0002092	28188237		False	1	0;0;100	1.39	True		ENSG00000127528	ENSG00000127528	HGNC:6347													
KLK1	gene	KLK1	Expert Review Red;Other	Pulmonary Arterial Hypertension		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary arterial hypertension MONDO:0015924			Pulmonary arterial hypertension;HP:0002092	31727138;17573418		False	1	0;50;50	1.39	True		ENSG00000167748	ENSG00000167748	HGNC:6357													
NOTCH3	gene	NOTCH3	Expert Review Red;Literature	Pulmonary Arterial Hypertension		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary arterial hypertension MONDO:0015924, NOTCH3-related			Pulmonary arterial hypertension;HP:0002092	19855400;31868216;24936512;33712516		False	1	0;33;67	1.39	True	Other	ENSG00000074181	ENSG00000074181	HGNC:7883													
PDGFD	gene	PDGFD	Expert list;Expert Review Red	Pulmonary Arterial Hypertension		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary arterial hypertension MONDO:0015924, PDGFD-related			Pulmonary arterial hypertension;HP:0002092	33187088;33971972		False	1	0;0;100	1.39	True		ENSG00000170962	ENSG00000170962	HGNC:30620													
SMAD1	gene	SMAD1	Expert Review Red;Literature	Pulmonary Arterial Hypertension		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary arterial hypertension MONDO:0015924, SMAD1-related			Pulmonary arterial hypertension;HP:0002092	21898662;23478097		False	1	0;50;50	1.39	True		ENSG00000170365	ENSG00000170365	HGNC:6767													
SMAD4	gene	SMAD4	Expert Review Red;Literature	Pulmonary Arterial Hypertension		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary arterial hypertension MONDO:0015924, SMAD4-related			Pulmonary arterial hypertension;HP:0002092	21898662		False	1	0;50;50	1.39	True		ENSG00000141646	ENSG00000141646	HGNC:6770