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
AQP1	gene	AQP1	Expert list;Expert Review Amber	Pulmonary Arterial Hypertension		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary arterial hypertension MONDO:0015924, AQP1-related			Pulmonary arterial hypertension;HP:0002092	22683574;29650961;37007933;35627312		False	2	50;50;0	1.39	True		ENSG00000240583	ENSG00000240583	HGNC:633													
BMP10	gene	BMP10	Expert Review Amber;Literature	Pulmonary Arterial Hypertension		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary arterial hypertension MONDO:0015924, BMP10-related			Pulmonary arterial hypertension;HP:0002092	30578383;29843651;33187088;31661308		False	2	0;100;0	1.39	True		ENSG00000163217	ENSG00000163217	HGNC:20869													
CAPNS1	gene	CAPNS1	Expert list;Expert Review Amber	Pulmonary Arterial Hypertension		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related			Pulmonary arterial hypertension;HP:0002092	38230350		False	2	0;100;0	1.39	True		ENSG00000126247	ENSG00000126247	HGNC:1481													
G6PD	gene	G6PD	Expert Review Amber;Literature	Pulmonary Arterial Hypertension		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Pulmonary arterial hypertension			Pulmonary arterial hypertension;HP:0002092	31913656;30161219		False	2	0;100;0	1.39	True		ENSG00000160211	ENSG00000160211	HGNC:4057													
GGCX	gene	GGCX	ClinGen;Expert Review Amber	Pulmonary Arterial Hypertension		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	pulmonary arterial hypertension MONDO:0015924			Pulmonary arterial hypertension;HP:0002092	31727138		False	2	0;100;0	1.39	True		ENSG00000115486	ENSG00000115486	HGNC:4247													
TET2	gene	TET2	Expert list;Expert Review Amber	Pulmonary Arterial Hypertension		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary arterial hypertension MONDO:0015924, TET2-related			Pulmonary arterial hypertension;HP:0002092	32192357		False	2	0;100;0	1.39	True		ENSG00000168769	ENSG00000168769	HGNC:25941