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
ACTA2	gene	ACTA2	ClinGen;Expert Review Green	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial thoracic aortic aneurysm and aortic dissection						False	3	0;0;0	0.12	False		ENSG00000107796	ENSG00000107796	HGNC:130													
COL3A1	gene	COL3A1	ClinGen;Expert Review Green;Other	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial thoracic aortic aneurysm and aortic dissection						False	3	0;0;0	0.12	False		ENSG00000168542	ENSG00000168542	HGNC:2201													
FBN1	gene	FBN1	ClinGen;Expert Review Green	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial thoracic aortic aneurysm and aortic dissection						False	3	0;0;0	0.12	False		ENSG00000166147	ENSG00000166147	HGNC:3603													
LOX	gene	LOX	ClinGen;Expert Review Green	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial thoracic aortic aneurysm and aortic dissection						False	3	0;0;0	0.12	False		ENSG00000113083	ENSG00000113083	HGNC:6664													
MYH11	gene	MYH11	ClinGen;Expert Review Green	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial thoracic aortic aneurysm and aortic dissection						False	3	0;0;0	0.12	False		ENSG00000133392	ENSG00000133392	HGNC:7569													
MYLK	gene	MYLK	ClinGen;Expert Review Green	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial thoracic aortic aneurysm and aortic dissection						False	3	0;0;0	0.12	False		ENSG00000065534	ENSG00000065534	HGNC:7590													
PRKG1	gene	PRKG1	ClinGen;Expert Review Green	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial thoracic aortic aneurysm and aortic dissection						False	3	0;0;0	0.12	False		ENSG00000185532	ENSG00000185532	HGNC:9414													
SMAD3	gene	SMAD3	ClinGen;Expert Review Green	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial thoracic aortic aneurysm and aortic dissection						False	3	0;0;0	0.12	False		ENSG00000166949	ENSG00000166949	HGNC:6769													
TGFB2	gene	TGFB2	ClinGen;Expert Review Green	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial thoracic aortic aneurysm and aortic dissection						False	3	0;0;0	0.12	False		ENSG00000092969	ENSG00000092969	HGNC:11768													
TGFBR1	gene	TGFBR1	ClinGen;Expert Review Green	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial thoracic aortic aneurysm and aortic dissection						False	3	0;0;0	0.12	False		ENSG00000106799	ENSG00000106799	HGNC:11772													
TGFBR2	gene	TGFBR2	ClinGen;Expert Review Green	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial thoracic aortic aneurysm and aortic dissection						False	3	0;0;0	0.12	False		ENSG00000163513	ENSG00000163513	HGNC:11773													
EFEMP2	gene	EFEMP2	ClinGen;Expert Review Amber	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			BIALLELIC, autosomal or pseudoautosomal	Familial thoracic aortic aneurysm and aortic dissection						False	2	0;0;0	0.12	False		ENSG00000172638	ENSG00000172638	HGNC:3219													
FOXE3	gene	FOXE3	ClinGen;Expert Review Amber	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial thoracic aortic aneurysm and aortic dissection						False	2	0;0;0	0.12	False		ENSG00000186790	ENSG00000186790	HGNC:3808													
MFAP5	gene	MFAP5	ClinGen;Expert Review Amber	ClinGen_Familial thoracic aortic aneurysm and aortic dissection			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial thoracic aortic aneurysm and aortic dissection						False	2	0;0;0	0.12	False		ENSG00000197614	ENSG00000197614	HGNC:29673