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
ACVR1	gene	ACVR1	Emory Genetics Laboratory;Expert list	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal		Connective Tissue Disorders						False	1	0;0;100	4.8	False		ENSG00000115170	ENSG00000115170	HGNC:171													
COX7B	gene	COX7B	Radboud University Medical Center, Nijmegen	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal		Aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies, 300887 						False	1	0;0;100	4.8	False		ENSG00000131174	ENSG00000131174	HGNC:2291													
FLCN	gene	FLCN	Emory Genetics Laboratory;Expert Review Red	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pneumothorax, primary spontaneous, 173600;Connective Tissue Disorders				15657874;17496196;20413710;21550484;19483054;15852235;15805188		False	1	0;0;100	4.8	False		ENSG00000154803	ENSG00000154803	HGNC:27310													
MYH11	gene	MYH11	Emory Genetics Laboratory;Expert list	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Aortic aneurysm, familial thoracic 4, 132900						False	1	67;0;33	4.8	False		ENSG00000133392	ENSG00000133392	HGNC:7569													
PLOD3	gene	PLOD3	Expert Review	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Lysyl hydroxylase 3 deficiency, 612394				18834968		False	1	0;0;100	4.8	False		ENSG00000106397	ENSG00000106397	HGNC:9083													
SLC2A10	gene	SLC2A10	Emory Genetics Laboratory;Expert list	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Arterial tortuosity syndrome, 208050;Connective Tissue Disorders, Cutis laxa						False	1	67;0;33	4.8	False		ENSG00000197496	ENSG00000197496	HGNC:13444													
TPSAB1	gene	TPSAB1	Expert Review;Literature	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	Unknown	?Mast cell dysfunction (with joint hypermobility)				27749843		False	1	0;0;100	4.8	False		ENSG00000172236	ENSG00000172236	HGNC:12019