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
ABCC6	gene	ABCC6	Expert Review Red;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Pseudoxanthoma elasticum (MIM# 264800)			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	PMID: 30071989;11536079		False	1	0;50;50	1.86	True		ENSG00000091262	ENSG00000091262	HGNC:57													
COL6A2	gene	COL6A2	Expert Review Red;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Myopathic EDS;Bethlem myopathy 1 MIM #158810;Ullrich congenital muscular dystrophy 1 MIM #254090			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	PMID: 29277723;24443028;31273343		False	1	33;33;33	1.86	True	Other	ENSG00000142173	ENSG00000142173	HGNC:2212													
HEY2	gene	HEY2	Expert Review Red;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	congenital heart defects and thoracic aortic aneurysms			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	PMID: 32820247		False	1	0;0;100	1.86	True		ENSG00000135547	ENSG00000135547	HGNC:4881													
P4HA1	gene	P4HA1	Expert list;Expert Review Red	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Joint hypermobility;Contractures;Hypotonia;Mild skeletal dysplasia without bone fragility;High myopia			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	28419360		False	1	0;0;100	1.86	True		ENSG00000122884	ENSG00000122884	HGNC:8546													
PI4K2A	gene	PI4K2A	Expert Review Red;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, intellectual disability, movement disorder			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	32418222		False	1	0;0;100	1.86	True		ENSG00000155252	ENSG00000155252	HGNC:30031