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
COL9A1	gene	COL9A1	Expert Review Red;Victorian Clinical Genetics Services	Multiple epiphyseal dysplasia and pseudoachondroplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epiphyseal dysplasia, multiple, 6 614135			Multiple epiphyseal dysplasia;HP:0002654	11565064;27959697;8197187;8464901		False	1	0;100;0	0.11	True		ENSG00000112280	ENSG00000112280	HGNC:2217