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
DGUOK	gene	DGUOK	Expert Review Red	Albinism or congenital nystagmus		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 3				12210798;12205643		False	1	0;0;0	4.6	False		ENSG00000114956	ENSG00000114956	HGNC:2858													
GNAI3	gene	GNAI3	Expert Review Red	Albinism or congenital nystagmus		Ophthalmology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Auriculocondylar syndrome 1 602483;Ocular Albinism				27607449		False	1	0;0;0	4.6	False		ENSG00000065135	ENSG00000065135	HGNC:4387													
MITF	gene	MITF	Expert Review Red	Albinism or congenital nystagmus		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A);Waardenburg syndrome/ocular albinism, digenic,103470;Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA)						False	1	0;0;0	4.6	False		ENSG00000187098	ENSG00000187098	HGNC:7105													
MT-ATP6	gene	MT-ATP6	Expert Review Red	Albinism or congenital nystagmus		Ophthalmology	MITOCHONDRIAL	Retinal degeneration and nystagmus;Optic neuropathy and nystagmus;Nystagmus				26448634		False	1	0;0;0	4.6	False		ENSG00000198899	ENSG00000198899	HGNC:7414													
MT-CO1	gene	MT-CO1	Expert Review Red	Albinism or congenital nystagmus		Ophthalmology	MITOCHONDRIAL	Nystagmus;Optic neuropathy				26448634		False	1	0;0;0	4.6	False		ENSG00000198804	ENSG00000198804	HGNC:7419													
MT-CO3	gene	MT-CO3	Expert Review Red	Albinism or congenital nystagmus		Ophthalmology	MITOCHONDRIAL	Nystagmus				26448634		False	1	0;0;0	4.6	False		ENSG00000198938	ENSG00000198938	HGNC:7422													
MT-CYB	gene	MT-CYB	Expert Review Red	Albinism or congenital nystagmus		Ophthalmology	MITOCHONDRIAL	Nystagmus				26448634		False	1	0;0;0	4.6	False		ENSG00000198727	ENSG00000198727	HGNC:7427													
MT-ND2	gene	MT-ND2	Expert Review Red	Albinism or congenital nystagmus		Ophthalmology	MITOCHONDRIAL	Retinal degeneration and nystagmus				26448634		False	1	0;0;0	4.6	False		ENSG00000198763	ENSG00000198763	HGNC:7456													
MT-ND6	gene	MT-ND6	Expert Review Red	Albinism or congenital nystagmus		Ophthalmology	MITOCHONDRIAL	Nystagmus				26448634		False	1	0;0;0	4.6	False		ENSG00000198695	ENSG00000198695	HGNC:7462													
ROBO1	gene	ROBO1	Literature	Albinism or congenital nystagmus		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	?Nystagmus 8, congenital, autosomal recessive, OMIM:257400				35348658		False	1	0;0;100	4.6	False		ENSG00000169855	ENSG00000169855	HGNC:10249