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
COL6A3	gene	COL6A3	Expert Review Amber;Literature	Eye Anterior Segment Abnormalities		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Peters anomaly			Abnormal anterior eye segment morphology;HP:0004328	33304895		False	2	0;100;0	1.12	True		ENSG00000163359	ENSG00000163359	HGNC:2213													
CRYAA	gene	CRYAA	Expert Review;Expert Review Amber	Eye Anterior Segment Abnormalities		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Anterior segment dysgenesis			Abnormal anterior eye segment morphology;HP:0004328	32791987		False	2	0;100;0	1.12	True	Other	ENSG00000160202	ENSG00000160202	HGNC:2388													
