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
IRX5	gene	IRX5	Expert Review Amber;Literature	Cone-rod Dystrophy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	cone dystrophy, MONDO:0000455				33891002;28041643;32045705;22581230;17230486		False	2	0;100;0	0.54	True	Other	ENSG00000176842	ENSG00000176842	HGNC:14361													
IRX6	gene	IRX6	Expert Review Amber;Literature	Cone-rod Dystrophy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	cone dystrophy, MONDO:0000455				33891002		False	2	0;100;0	0.54	True	Other	ENSG00000159387	ENSG00000159387	HGNC:14675													
MIR204	gene	MIR204	Expert Review Amber;Literature	Cone-rod Dystrophy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)				26056285;37321975		False	2	0;100;0	0.54	True	Other	ENSG00000207935	ENSG00000207935	HGNC:31582													
OPN1LW	gene	OPN1LW	Expert Review Amber;Royal Melbourne Hospital	Cone-rod Dystrophy		Ophthalmological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Blue cone monochromacy MIM#303700;Colourblindness, protan MIM#303900				30679166;25168334;32860923		False	2	0;100;0	0.54	True		ENSG00000102076	ENSG00000102076	HGNC:9936													
OPN1MW	gene	OPN1MW	Expert Review Amber;Royal Melbourne Hospital	Cone-rod Dystrophy		Ophthalmological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Blue cone monochromacy MIM#303700;Colourblindness, deutan MIM#303800				30679166;25168334;32860923		False	2	0;100;0	0.54	True		ENSG00000147380	ENSG00000268221	HGNC:4206													
SEMA4A	gene	SEMA4A	Expert Review Amber;Royal Melbourne Hospital	Cone-rod Dystrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Cone-rod dystrophy 10, 610283				30679166;16199541;28805479;23360997;15277503		False	2	0;100;0	0.54	True		ENSG00000196189	ENSG00000196189	HGNC:10729													
SLC6A6	gene	SLC6A6	Expert Review Amber;Literature	Cone-rod Dystrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350;Cone-rod retinopathy;cardiomyopathy				31345061;31903486;29886034		False	2	0;100;0	0.54	True		ENSG00000131389	ENSG00000131389	HGNC:11052													
UNC119	gene	UNC119	Expert Review Amber;Royal Melbourne Hospital	Cone-rod Dystrophy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cone-rod dystrophy 24, MIM# 620342				30679166;11006213;23563732;27079236		False	2	50;50;0	0.54	True		ENSG00000109103	ENSG00000109103	HGNC:12565