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
PDE6H	gene	PDE6H	Expert Review Red;Royal Melbourne Hospital	Cone-rod Dystrophy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Retinal Cone Dystrophy 3, 610024				30679166;15629837;22901948		False	1	0;0;100	0.54	True		ENSG00000139053	ENSG00000139053	HGNC:8790													
PITPNM3	gene	PITPNM3	Expert Review Red;Royal Melbourne Hospital	Cone-rod Dystrophy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cone-rod dystrophy 5, 600977				30679166;17377520;22405330		False	1	0;0;100	0.54	False		ENSG00000091622	ENSG00000091622	HGNC:21043													
RIMS1	gene	RIMS1	Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Cone-rod Dystrophy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cone-rod dystrophy 7, 603649				30679166		False	1	0;0;100	0.54	True		ENSG00000079841	ENSG00000079841	HGNC:17282													
VSX2	gene	VSX2	Expert list;Expert Review Red	Cone-rod Dystrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	smooth irides;lens subluxation;cone-rod dysfunction;high myopia				24001013		False	1	0;0;100	0.54	True		ENSG00000119614	ENSG00000119614	HGNC:1975													
