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
CREB3	gene	CREB3	Expert Review Amber;Literature	Cone-rod Dystrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinal degeneration, MONDO:0004580, CREB3-related				PMID: 40674075		False	2	50;50;0	0.69	True		ENSG00000107175	ENSG00000107175	HGNC:2347													
IFT57	gene	IFT57	Expert Review Amber;Literature	Cone-rod Dystrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Bield syndrome;ciliopathy - MONDO:0005308				PMID:40273360		False	2	0;100;0	0.69	True		ENSG00000114446	ENSG00000114446	HGNC:17367													
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	0.69	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	0.69	True	Other	ENSG00000159387	ENSG00000159387	HGNC:14675													
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	0.69	True		ENSG00000196189	ENSG00000196189	HGNC:10729													
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;41107067		False	2	50;50;0	0.69	True		ENSG00000109103	ENSG00000109103	HGNC:12565