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
CHST14	gene	CHST14	Expert Review;Expert Review Green;Literature	Kyphoscoliotic Ehlers-Danlos syndrome	Connective tissues disorders	Rheumatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, musculocontractural type 1						False	3	100;0;0	1.4	True		ENSG00000169105	ENSG00000169105	HGNC:24464													
FKBP14	gene	FKBP14	Emory Genetics Laboratory;Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen	Kyphoscoliotic Ehlers-Danlos syndrome	Connective tissues disorders	Rheumatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557						False	3	100;0;0	1.4	True		ENSG00000106080	ENSG00000106080	HGNC:18625													
PLOD1	gene	PLOD1	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN	Kyphoscoliotic Ehlers-Danlos syndrome	Connective tissues disorders	Rheumatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome, type VI, 225400						False	3	100;0;0	1.4	True		ENSG00000083444	ENSG00000083444	HGNC:9081													
