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
COL9A3	gene	COL9A3	Expert Review Amber;Literature	Vitreoretinopathy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Peripheral vitreoretinal degeneration and retinal detachment, AD			Abnormal posterior eye segment morphology;HP:0004329	33633367		False	2	50;50;0	1.5	True		ENSG00000092758	ENSG00000092758	HGNC:2219													
JAG1	gene	JAG1	Expert Review Amber;Literature	Vitreoretinopathy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial exudative vitreoretinopathy			Abnormal posterior eye segment morphology;HP:0004329	31273345		False	2	0;100;0	1.5	True		ENSG00000101384	ENSG00000101384	HGNC:6188													
KCNJ13	gene	KCNJ13	Expert Review Amber;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Snowflake vitreoretinal degeneration, MIM# 193230			Abnormal posterior eye segment morphology;HP:0004329	18179896;23255580;31647904		False	2	0;100;0	1.5	True		ENSG00000115474	ENSG00000115474	HGNC:6259