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
CNGB3	gene	CNGB3	Expert list;Expert Review Green	Achromatopsia		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Achromatopsia 3 MIM#262300			Achromatopsia;HP:0011516	17265047		False	3	100;0;0	1.9	True		ENSG00000170289	ENSG00000170289	HGNC:2153													
GNAT2	gene	GNAT2	Expert list;Expert Review Green	Achromatopsia		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Achromatopsia 4 MIM#613856			Achromatopsia;HP:0011516	32203983;17251445		False	3	100;0;0	1.9	True		ENSG00000134183	ENSG00000134183	HGNC:4394													
PDE6C	gene	PDE6C	Expert list;Expert Review Green	Achromatopsia		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Achromatopsia-5;Cone dystrophy 4, MIM# 613093			Achromatopsia;HP:0011516	19615668;30080950		False	3	100;0;0	1.9	True		ENSG00000095464	ENSG00000095464	HGNC:8787													
PDE6H	gene	PDE6H	Expert list;Expert Review Green	Achromatopsia		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Achromatopsia 6 MIM#610024			Achromatopsia;HP:0011516	22901948		False	3	100;0;0	1.9	True		ENSG00000139053	ENSG00000139053	HGNC:8790													
RGS9	gene	RGS9	Expert list;Expert Review Green	Achromatopsia		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Bradyopsia MIM#608415			Achromatopsia;HP:0011516	14702087;10676965;29107794		False	3	100;0;0	1.9	True		ENSG00000108370	ENSG00000108370	HGNC:10004													
RGS9BP	gene	RGS9BP	Expert list;Expert Review Green	Achromatopsia		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Bradyopsia MIM#608415			Achromatopsia;HP:0011516	14702087;19818506		False	3	100;0;0	1.9	True		ENSG00000186326	ENSG00000186326	HGNC:30304													
