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 Review Amber;Literature;NHS GMS	Pulmonary arterial hypertension		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Heritable pulmonary arterial hypertension, HPAH, MONDO:0017148				29650961		False	2	33;67;0	4.5	False		ENSG00000240583	ENSG00000240583	HGNC:633													
CAPNS1	gene	CAPNS1	Expert Review Amber;Literature	Pulmonary arterial hypertension		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Pulmonary hypertension, primary, 6, OMIM:620777				21972389;38230350		False	2	100;0;0	4.5	False		ENSG00000126247	ENSG00000126247	HGNC:1481													
CAV1	gene	CAV1	Emory Genetics Laboratory;Expert list;Expert Review Amber;Literature;NHS GMS;Radboud University Medical Center, Nijmegen	Pulmonary arterial hypertension		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary hypertension, primary, 3, 615343;Heritable pulmonary arterial hypertension;HPAH;Pulmonary arterial hypertension				25917481;11498544;12177436;19487814;20301658;22474227;26387786;27717241;29650961		False	2	50;50;0	4.5	False		ENSG00000105974	ENSG00000105974	HGNC:1527													
NFU1	gene	NFU1	Expert Review Amber;Literature	Pulmonary arterial hypertension		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711;Pulmonary hypertension in early infancy				22077971;25918518;28470589;31516295;32669393;31461310		False	2	50;50;0	4.5	False		ENSG00000169599	ENSG00000169599	HGNC:16287