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
COL9A2	gene	COL9A2	Expert Review Green;Victorian Clinical Genetics Services	Multiple epiphyseal dysplasia and pseudoachondroplasia	Skeletal dysplasias	Skeletal disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Epiphyseal dysplasia, multiple, 2 600204;Stickler syndrome, type V, 614284;Stickler syndrome, type V 614284;{Intervertebral disc disease, susceptibility to}, 603932			Multiple epiphyseal dysplasia;HP:0002654			False	3	0;0;0	0.11	False		ENSG00000049089	ENSG00000049089	HGNC:2218													
COL9A3	gene	COL9A3	Expert Review Green;Victorian Clinical Genetics Services	Multiple epiphyseal dysplasia and pseudoachondroplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Multiple Epiphyseal Dysplasia, Dominant;Mutiple Epiphyseal Dysplasia;Stickler syndrome type VI;multiple epiphyseal dysplasia 3, with or without myopathy - 600969;MED;multiple epiphyseal dysplasia;Epiphyseal dysplasia, multiple, with myopathy			Multiple epiphyseal dysplasia;HP:0002654			False	3	0;0;0	0.11	False		ENSG00000092758	ENSG00000092758	HGNC:2219													
COMP	gene	COMP	Expert Review Green;Victorian Clinical Genetics Services	Multiple epiphyseal dysplasia and pseudoachondroplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pseudoachondroplasia 177170;Epiphyseal dysplasia, multiple, 1 132400			Multiple epiphyseal dysplasia;HP:0002654			False	3	0;0;0	0.11	False		ENSG00000105664	ENSG00000105664	HGNC:2227													
ERI1	gene	ERI1	Expert Review Green;Literature	Multiple epiphyseal dysplasia and pseudoachondroplasia	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663			Multiple epiphyseal dysplasia;HP:0002654	37352860		False	3	100;0;0	0.11	True		ENSG00000104626	ENSG00000104626	HGNC:23994													
MATN3	gene	MATN3	Expert Review Green;Victorian Clinical Genetics Services	Multiple epiphyseal dysplasia and pseudoachondroplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epiphyseal dysplasia, multiple, 5, 607078;Multiple Epiphyseal Dysplasia, Dominant;MED;multiple epiphyseal dysplasia;Disproportionate Short Stature;{Osteoarthritis susceptibility 2}, 140600;Spondyloepimetaphyseal dysplasia, 608728			Multiple epiphyseal dysplasia;HP:0002654	16287128;15121775;16199550;11479597;30080953		False	3	0;0;0	0.11	False		ENSG00000132031	ENSG00000132031	HGNC:6909													
SLC26A2	gene	SLC26A2	Expert Review Green;Victorian Clinical Genetics Services	Multiple epiphyseal dysplasia and pseudoachondroplasia	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple Epiphyseal Dysplasia, Recessive;multiple epiphyseal dysplasia;Epiphyseal dysplasia, multiple, 4;ACG1B,DD,rMED			Multiple epiphyseal dysplasia;HP:0002654			False	3	0;0;0	0.11	False		ENSG00000155850	ENSG00000155850	HGNC:10994													
CANT1	gene	CANT1	Expert Review Amber;Victorian Clinical Genetics Services	Multiple epiphyseal dysplasia and pseudoachondroplasia	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	multiple epiphyseal dysplasia type 7, 617719.;Desbuquois dysplasia 1 251450			Multiple epiphyseal dysplasia;HP:0002654			False	2	0;100;0	0.11	True		ENSG00000171302	ENSG00000171302	HGNC:19721													
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