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 BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 12210798;12205643 False 1 0;0;0 3.5 False ENSG00000114956 ENSG00000114956 HGNC:2858 GNAI3 gene GNAI3 Expert Review Red Albinism or congenital nystagmus BOTH monoallelic and biallelic, autosomal or pseudoautosomal Auriculocondylar syndrome 1 602483;Ocular Albinism 27607449 False 1 0;0;0 3.5 False ENSG00000065135 ENSG00000065135 HGNC:4387 MITF gene MITF Expert Review Red Albinism or congenital nystagmus 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 3.5 False ENSG00000187098 ENSG00000187098 HGNC:7105 MT-ATP6 gene MT-ATP6 Expert Review Red Albinism or congenital nystagmus MITOCHONDRIAL Retinal degeneration and nystagmus;Optic neuropathy and nystagmus;Nystagmus 26448634 False 1 0;0;0 3.5 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-CO1 gene MT-CO1 Expert Review Red Albinism or congenital nystagmus MITOCHONDRIAL Nystagmus;Optic neuropathy 26448634 False 1 0;0;0 3.5 False ENSG00000198804 ENSG00000198804 HGNC:7419 MT-CO3 gene MT-CO3 Expert Review Red Albinism or congenital nystagmus MITOCHONDRIAL Nystagmus 26448634 False 1 0;0;0 3.5 False ENSG00000198938 ENSG00000198938 HGNC:7422 MT-CYB gene MT-CYB Expert Review Red Albinism or congenital nystagmus MITOCHONDRIAL Nystagmus 26448634 False 1 0;0;0 3.5 False ENSG00000198727 ENSG00000198727 HGNC:7427 MT-ND2 gene MT-ND2 Expert Review Red Albinism or congenital nystagmus MITOCHONDRIAL Retinal degeneration and nystagmus 26448634 False 1 0;0;0 3.5 False ENSG00000198763 ENSG00000198763 HGNC:7456 MT-ND6 gene MT-ND6 Expert Review Red Albinism or congenital nystagmus MITOCHONDRIAL Nystagmus 26448634 False 1 0;0;0 3.5 False ENSG00000198695 ENSG00000198695 HGNC:7462 ROBO1 gene ROBO1 Literature Albinism or congenital nystagmus BIALLELIC, autosomal or pseudoautosomal ?Nystagmus 8, congenital, autosomal recessive, OMIM:257400 35348658 False 1 0;0;100 3.5 False ENSG00000169855 ENSG00000169855 HGNC:10249