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
ANK3	gene	ANK3	Expert Review Amber;Literature	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	coloboma MONDO#0001476, ANK3-related			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	35034853		False	2	0;100;0	1.43	True		ENSG00000151150	ENSG00000151150	HGNC:494													
BMP3	gene	BMP3	Expert Review Amber;Literature	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	coloboma, MONDO:0001476;microphthalmia, MONDO:0021129			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	35089417		False	2	0;100;0	1.43	True		ENSG00000152785	ENSG00000152785	HGNC:1070													
C16orf62	gene	C16orf62	Expert Review Amber;Literature	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	25434475;31712251		False	2	0;100;0	1.43	True		ENSG00000103544	ENSG00000103544	HGNC:24641													
CDON	gene	CDON	Expert Review Amber;Literature	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Coloboma			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	PMID: 32729136		False	2	0;100;0	1.43	True		ENSG00000064309	ENSG00000064309	HGNC:17104													
RPGRIP1L	gene	RPGRIP1L	Expert list;Expert Review Amber	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	COACH syndrome, MIM#216360			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589			False	2	0;100;0	1.43	True		ENSG00000103494	ENSG00000103494	HGNC:29168													
TOGARAM1	gene	TOGARAM1	Expert Review Amber;Literature	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 37, MIM# 619185;Cleft of the lip and palate;Microphthalmia;Cerebral dysgenesis;Hydrocephalus			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	32747439;32453716		False	2	0;100;0	1.43	True		ENSG00000198718	ENSG00000198718	HGNC:19959													
ZRSR2	gene	ZRSR2	Expert Review Amber;Literature	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Orofaciodigital syndrome XXI, MIM# 301132			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	38158857		False	2	0;100;0	1.43	True		ENSG00000169249	ENSG00000169249	HGNC:23019