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 Review Red;Literature	Pulmonary arterial hypertension		Respiratory	Unknown	Idiopathic pulmonary arterial hypertension; IPAH				20301658; 22374147		False	1	0;100;0	4.5	False		ENSG00000138696	ENSG00000138696	HGNC:1077													
CBLN2	gene	CBLN2	Literature	Pulmonary arterial hypertension		Respiratory	Unknown					23502781		False	1	0;0;100	4.5	False		ENSG00000141668	ENSG00000141668	HGNC:1544													
KCNA5	gene	KCNA5	Literature	Pulmonary arterial hypertension		Respiratory	Unknown	Idiopathic pulmonary arterial hypertension; IPAH				26387786;17267549;25189502;26387786;19223935;17641158;26167679		False	1	0;0;100	4.5	False		ENSG00000130037	ENSG00000130037	HGNC:6224													
SMAD1	gene	SMAD1	Expert list;Literature	Pulmonary arterial hypertension		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Idiopathic pulmonary arterial hypertension; IPAH; heritable pulmonary arterial hypertension; HPAH				21898662;23478097;24355637;24959202;26387786;29650961		False	1	50;0;50	4.5	False		ENSG00000170365	ENSG00000170365	HGNC:6767													
SMAD4	gene	SMAD4	Expert list;Literature	Pulmonary arterial hypertension		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Idiopathic pulmonary arterial hypertension;IPAH;Heritable pulmonary arterial hypertension;HPAH;Pulmonary arterial hypertension;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050				21898662;24355637;26387786;29650961		False	1	50;0;50	4.5	False		ENSG00000141646	ENSG00000141646	HGNC:6770