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
FOXD3	gene	FOXD3	ClinGen;Expert Review Red	Eye Anterior Segment Abnormalities		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aniridia, MONDO:0019172			Abnormal anterior eye segment morphology;HP:0004328			False	1	0;0;100	1.21	True		ENSG00000187140	ENSG00000187140	HGNC:3804													
POMK	gene	POMK	Expert Review Red;Literature	Eye Anterior Segment Abnormalities		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Anterior segment dysgenesis, MONDO:0019503, POMK-related			Abnormal anterior eye segment morphology;HP:0004328	40011789		False	1	0;0;100	1.21	True		ENSG00000185900	ENSG00000185900	HGNC:26267													
PITX2 upstream regulatory region	region		Literature;Literature	Eye Anterior Segment Abnormalities		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Axenfeld-Rieger syndrome, MONDO:0019187			Abnormal anterior eye segment morphology;HP:0004328	PMID: 20881290, 28911203, 14991915, 9480756		False	1	100;0;0	1.21	False					4			110875898	111624359						70	cnv_loss	PITX2 upstream regulatory region