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
ARIH1	gene	ARIH1	Expert Review Amber;Literature	Thoracic aortic aneurysm or dissection (GMS)		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thoracic aortic aneurysm, MONDO:0005396				29689197;32102558		False	2	50;50;0	4.5	False		ENSG00000166233	ENSG00000166233	HGNC:689													
FOXE3	gene	FOXE3	Expert Review Amber;London South GLH;South West GLH	Thoracic aortic aneurysm or dissection (GMS)		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349				26854927		False	2	29;71;0	4.5	False		ENSG00000186790	ENSG00000186790	HGNC:3808													
LTBP3	gene	LTBP3	Expert Review Amber;NHS GMS	Thoracic aortic aneurysm or dissection (GMS)		Cardiology	BIALLELIC, autosomal or pseudoautosomal	Short stature;dental anomalies;aortopathy;facial dysmorphism;learning disability;Dental anomalies and short stature, OMIM:601216				25899461;29625025		False	2	67;33;0	4.5	False		ENSG00000168056	ENSG00000168056	HGNC:6716													
THSD4	gene	THSD4	Expert Review Amber;Literature	Thoracic aortic aneurysm or dissection (GMS)		Cardiology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	familial thoracic aortic aneurysm and aortic dissection, MONDO:0019625				32855533		False	2	50;50;0	4.5	False		ENSG00000187720	ENSG00000187720	HGNC:25835