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
ABCB6	gene	ABCB6	Expert Review Red;Literature	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Microphthalmia, isolated, with coloboma 7 MIM#614497			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	22226084;24281366		False	1	0;0;100	1.57	True		ENSG00000115657	ENSG00000115657	HGNC:47													
CDH4	gene	CDH4	Expert Review Red;Literature	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	coloboma MONDO#0001476, CDH4-related			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	35034853		False	1	0;0;100	1.57	True		ENSG00000179242	ENSG00000179242	HGNC:1763													
GDF3	gene	GDF3	Expert list;Expert Review Red	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Microphthalmia with coloboma 6, OMIM #613703;Microphthalmia, isolated 7, OMIM # 613704			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	PubMed: 19864492		False	1	50;0;50	1.57	True		ENSG00000184344	ENSG00000184344	HGNC:4218													
HESX1	gene	HESX1	Expert Review Red;Victorian Clinical Genetics Services	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Septooptic dysplasia, MIM# 182230			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	11136712		False	1	0;0;100	1.57	True		ENSG00000163666	ENSG00000163666	HGNC:4877													
KIF15	gene	KIF15	Expert Review Red;Literature	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Braddock-Carey syndrome 2 - MIM#619981			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	28150392		False	1	0;100;0	1.57	True		ENSG00000163808	ENSG00000163808	HGNC:17273													
KIF17	gene	KIF17	Expert Review Red;Literature	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, isolated, with coloboma MONDO:0000170, KIF17-related			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	33922911;30458707;28341548		False	1	0;0;100	1.57	True		ENSG00000117245	ENSG00000117245	HGNC:19167													
NHEJ1	gene	NHEJ1	Expert Review Red;Literature	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	"Microphthalmia/coloboma, MIM# 13	620968"			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	37580330		False	1	0;0;100	1.57	True		ENSG00000187736	ENSG00000187736	HGNC:25737													
PDGFRA	gene	PDGFRA	Expert Review Red;Literature	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	coloboma MONDO#0001476, PDGFRA-related			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	35034853		False	1	0;0;100	1.57	True		ENSG00000134853	ENSG00000134853	HGNC:8803													
RARA	gene	RARA	Expert Review Red;Literature	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Syndromic chorioretinal coloboma			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	31343737		False	1	0;0;100	1.57	True		ENSG00000131759	ENSG00000131759	HGNC:9864													
SALL2	gene	SALL2	Expert Review Red;Other	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Coloboma, ocular, autosomal recessive, MIM#16820			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	24412933		False	1	0;0;100	1.57	True		ENSG00000165821	ENSG00000165821	HGNC:10526													
TENM1	gene	TENM1	Expert Review Red;Victorian Clinical Genetics Services	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	Unknown				Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589			False	1	0;0;100	1.57	True		ENSG00000009694	ENSG00000009694	HGNC:8117													
VAX1	gene	VAX1	Expert Review Red;Victorian Clinical Genetics Services	Anophthalmia_Microphthalmia_Coloboma		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, syndromic 11, MIM# 614402			Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589	22095910		False	1	0;0;100	1.57	True		ENSG00000148704	ENSG00000148704	HGNC:12660