Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000572 | HP:0000572 | Visual loss | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | . | | | 135 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ADAMTS10 CL E G H | 81794 | 13201 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 530 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | AGBL1 CL E G H | 123624 | 26504 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 3 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 175 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | | | | 95 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040281 - Very frequent | | | 404 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ALPK1 CL E G H | 80216 | 20917 | OMIM:614979 | Splenomegaly, cytopenia, and vision loss | . | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 39 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | . | | | 150 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ATXN7 CL E G H | 6314 | 10560 | OMIM:164500 | Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II | | | | 8 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | HP:0040282 - Frequent | | | 8 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 184 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | . | | | 101 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | | | | 276 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | | | | 223 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | | | | 114 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | C1QTNF5 CL E G H | 114902 | 14344 | OMIM:605670 | Late-Onset retinal degeneration | . | | | 20 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040282 - Frequent | | | 20 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | . | | | 29 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | | | | 35 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 8 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | | | | 636 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 636 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CDHR1 CL E G H | 92211 | 14550 | OMIM:613660 | CONE-ROD DYSTROPHY 15; CORD15 | | | | 147 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 7 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CEP164 CL E G H | 22897 | 29182 | ORPHA:3156 | Senior-Loken syndrome | | | | 34 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:3156 | Senior-Loken syndrome | | | | 342 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 90 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 9 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CFH CL E G H | 3075 | 4883 | OMIM:126700 | Basal laminar drusen | | | | 86 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040281 - Very frequent | | | 86 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040281 - Very frequent | | | 57 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CFI CL E G H | 3426 | 5394 | OMIM:615439 | Macular degeneration, age-related, 13 | | | | 57 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CHM CL E G H | 1121 | 1940 | ORPHA:180 | Choroideremia | | | | 47 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 15 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:166600 | Osteopetrosis, autosomal dominant 2 | . | | | 102 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | | | | 216 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CLN5 CL E G H | 1203 | 2076 | OMIM:256731 | Ceroid lipofuscinosis, neuronal, 5 | | | | 141 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:601780 | Ceroid lipofuscinosis, neuronal, 6 | | | | 143 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CLN8 CL E G H | 2055 | 2079 | OMIM:600143 | Ceroid lipofuscinosis, neuronal, 8 | | | | 111 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | | | | 111 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 60 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | | | | 129 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL18A1 CL E G H | 80781 | 2195 | ORPHA:1571 | Knobloch syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:90653 | Stickler syndrome type 1 | HP:0040283 - Occasional | | | 284 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040283 - Occasional | | | 263 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 3 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | . | | | 54 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | | | | 88 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | . | | | 159 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98976 | Congenital glaucoma | HP:0040283 - Occasional | | | 101 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | | | | 126 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 1 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | DCN CL E G H | 1634 | 2705 | OMIM:610048 | Corneal dystrophy, congenital stromal | | | | 31 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:610708 | Optic atrophy 5 | | | | 94 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040281 - Very frequent | | | 54 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ELMO2 CL E G H | 63916 | 17233 | OMIM:606893 | Vascular malformation, primary intraosseous | . | | | 3 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | EPM2A CL E G H | 7957 | 3413 | OMIM:254780 | Myoclonic epilepsy of lafora | . | | | 83 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 33 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | | | | 76 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93259 | Pfeiffer syndrome type 2 | HP:0040283 - Occasional | | | 175 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:250923 | Isolated aniridia | HP:0040281 - Very frequent | | | 63 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 16 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 7 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040284 - Very rare | | | 101 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 24 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | GUCA1A CL E G H | 2978 | 4678 | OMIM:602093 | Cone dystrophy 3 | | | | 24 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 124 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | HP:0040281 - Very frequent | | | 4 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 2 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 262 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | HSD17B10 CL E G H | 3028 | 4800 | OMIM:300438 | HSD10 mitochondrial disease | . | | | 19 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | | | | 148 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | . | | | 148 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 65 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 111 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | INVS CL E G H | 27130 | 17870 | ORPHA:3156 | Senior-Loken syndrome | | | | 106 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:3156 | Senior-Loken syndrome | | | | 61 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619196 | DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | KCTD7 CL E G H | 154881 | 21957 | OMIM:611726 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | HP:0040283 - Occasional | | | 106 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | HP:0040281 - Very frequent | | | 276 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | LAMC3 CL E G H | 10319 | 6494 | OMIM:614115 | Cortical malformations, occipital | . | | | 114 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | LCA5 CL E G H | 167691 | 31923 | OMIM:604537 | Leber congenital amaurosis 5 | . | HP:0003577 - Congenital onset | | 70 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | LSS CL E G H | 4047 | 6708 | OMIM:616509 | Cataract 44 | . | | | 2 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | LTBP2 CL E G H | 4053 | 6715 | ORPHA:98976 | Congenital glaucoma | HP:0040283 - Occasional | | | 123 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | LTBP2 CL E G H | 4053 | 6715 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | | | | 462 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | MERTK CL E G H | 10461 | 7027 | OMIM:613862 | Retinitis pigmentosa 38 | | | | 75 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:610951 | Ceroid lipofuscinosis, neuronal, 7 | . | | | 120 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 127 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 516 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 516 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | MYO7A CL E G H | 4647 | 7606 | OMIM:276900 | Usher syndrome, type I | . | | | 516 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | MYOC CL E G H | 4653 | 7610 | ORPHA:98976 | Congenital glaucoma | HP:0040283 - Occasional | | | 47 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | | | | 25 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND2 CL E G H | 4536 | 7456 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND4 CL E G H | 4538 | 7459 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND4L CL E G H | 4539 | 7460 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | | | | 65 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | | | | 43 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | | | | 43 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040283 - Occasional | | | 220 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NHLRC1 CL E G H | 378884 | 21576 | OMIM:254780 | Myoclonic epilepsy of lafora | . | | | 77 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NHS CL E G H | 4810 | 7820 | OMIM:302350 | Nance-Horan syndrome | . | | | 88 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NHS CL E G H | 4810 | 7820 | ORPHA:627 | Nance-Horan syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040283 - Occasional | | | 187 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:3156 | Senior-Loken syndrome | | | | 85 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3156 | Senior-Loken syndrome | | | | 157 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | NPHP4 CL E G H | 261734 | 19104 | ORPHA:3156 | Senior-Loken syndrome | | | | 220 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | OAT CL E G H | 4942 | 8091 | ORPHA:414 | Gyrate atrophy of choroid and retina | | | | 94 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | | | | 214 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PAK2 CL E G H | 5062 | 8591 | ORPHA:1571 | Knobloch syndrome | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:250923 | Isolated aniridia | HP:0040281 - Very frequent | | | 194 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 352 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | | | | 11 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 40 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614885 | Peroxisome biogenesis disorder 11B | . | | | 66 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | | | | 72 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | HP:0040283 - Occasional | | | 21 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | | | | 45 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:256600 | Neurodegeneration with brain iron accumulation 2A | . | | | 133 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PMPCB CL E G H | 9512 | 9119 | OMIM:617954 | Multiple mitochondrial dysfunctions syndrome 6 | HP:0040284 - Very rare | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | | | | 103 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B | | | | 45 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | | | | 172 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | HP:0040282 - Frequent | | | 58 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 159 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | | | | 159 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:301835 | Arts syndrome | . | | | 49 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:311070 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | | | | 49 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 81 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 3 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:610381 | Cone-Rod dystrophy 11 | | | | 52 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | | | | 2 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | | | | 32 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | | | | 107 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | | | | 47 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | | | | 47 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | RP1L1 CL E G H | 94137 | 15946 | OMIM:613587 | OCCULT MACULAR DYSTROPHY; OCMD | | | | 284 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:3156 | Senior-Loken syndrome | | | | 61 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | | | | 48 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 19 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SH3BP2 CL E G H | 6452 | 10825 | ORPHA:184 | Cherubism | | | | 177 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SLC19A2 CL E G H | 10560 | 10938 | OMIM:249270 | Thiamine-Responsive megaloblastic anemia syndrome | . | | | 55 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SLC19A2 CL E G H | 10560 | 10938 | ORPHA:49827 | Thiamine-responsive megaloblastic anemia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SLC4A11 CL E G H | 83959 | 16438 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 66 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | HP:0040283 - Occasional | | | 47 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | HP:0040282 - Frequent | | | 174 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | | | | 12 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | | | | 26 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | . | | | 26 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SPATA7 CL E G H | 55812 | 20423 | OMIM:604232 | LEBER CONGENITAL AMAUROSIS 3; LCA3 | | | | 48 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | HP:0040282 - Frequent | | | 80 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | HP:0040282 - Frequent | | | 80 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ST3GAL5 CL E G H | 8869 | 10872 | OMIM:609056 | Salt and pepper developmental regression syndrome | . | | | 47 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TAT CL E G H | 6898 | 11573 | ORPHA:28378 | Tyrosinemia type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:615338 | Epileptic encephalopathy, early infantile, 16 | . | | | 271 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 241 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TCOF1 CL E G H | 6949 | 11654 | OMIM:154500 | Treacher collins-franceschetti syndrome | . | | | 140 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TEK CL E G H | 7010 | 11724 | ORPHA:98976 | Congenital glaucoma | HP:0040283 - Occasional | | | 78 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TFG CL E G H | 10342 | 11758 | OMIM:615658 | Spastic paraplegia 57, autosomal recessive | . | | | 18 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:122200 | Corneal dystrophy, lattice type I | | | | 58 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040281 - Very frequent | | | 58 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | | | | 58 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TIMP3 CL E G H | 7078 | 11822 | ORPHA:59181 | Sorsby pseudoinflammatory fundus dystrophy | HP:0040281 - Very frequent | | | 95 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:204500 | Ceroid lipofuscinosis, neuronal, 2 | | | | 203 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | ORPHA:3156 | Senior-Loken syndrome | | | | 6 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | | | | 56 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRIM44 CL E G H | 54765 | 19016 | OMIM:617142 | Aniridia 3 | | | | 1 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRIM44 CL E G H | 54765 | 19016 | ORPHA:250923 | Isolated aniridia | HP:0040281 - Very frequent | | | 1 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 173 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | USH1C CL E G H | 10083 | 12597 | OMIM:276900 | Usher syndrome, type I | . | | | 173 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 78 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 777 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | VCAN CL E G H | 1462 | 2464 | OMIM:143200 | Wagner vitreoretinopathy | . | | | 180 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:3156 | Senior-Loken syndrome | | | | 95 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 155 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 8 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616468 | Exudative vitreoretinopathy 6 | | | | 14 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ZNF469 CL E G H | 84627 | 23216 | OMIM:229200 | Brittle cornea syndrome | . | | | 397 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | HP:0040282 - Frequent | | | 397 | | |
HP:0000572 | HP:0000572 | Visual loss | 0 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 39 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | . | | | 150 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ATXN7 CL E G H | 6314 | 10560 | OMIM:164500 | Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II | . | | | 8 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | | | | 276 | | |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040283 - Occasional | | | 223 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040282 - Frequent | | | 35 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CDHR1 CL E G H | 92211 | 14550 | OMIM:613660 | CONE-ROD DYSTROPHY 15; CORD15 | | | | 147 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CEP164 CL E G H | 22897 | 29182 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CFH CL E G H | 3075 | 4883 | OMIM:126700 | Basal laminar drusen | . | | | 86 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CFI CL E G H | 3426 | 5394 | OMIM:615439 | Macular degeneration, age-related, 13 | . | | | 57 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CHM CL E G H | 1121 | 1940 | ORPHA:180 | Choroideremia | HP:0040282 - Frequent | | | 47 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | . | | | 47 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CLN5 CL E G H | 1203 | 2076 | OMIM:256731 | Ceroid lipofuscinosis, neuronal, 5 | . | | | 141 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CLN6 CL E G H | 54982 | 2077 | OMIM:601780 | Ceroid lipofuscinosis, neuronal, 6 | . | | | 143 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CLN8 CL E G H | 2055 | 2079 | OMIM:600143 | Ceroid lipofuscinosis, neuronal, 8 | . | | | 111 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040282 - Frequent | | | 111 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | HP:0040281 - Very frequent | | | 129 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | COL18A1 CL E G H | 80781 | 2195 | ORPHA:1571 | Knobloch syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | | | | 88 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | . | | | 126 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | DCN CL E G H | 1634 | 2705 | OMIM:610048 | Corneal dystrophy, congenital stromal | . | | | 31 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | DNM1L CL E G H | 10059 | 2973 | OMIM:610708 | Optic atrophy 5 | | | | 94 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | . | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | | | | 76 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 24 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | GUCA1A CL E G H | 2978 | 4678 | OMIM:602093 | Cone dystrophy 3 | . | | | 24 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 124 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 262 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | . | | | 148 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | INVS CL E G H | 27130 | 17870 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 106 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | KARS1 CL E G H | 3735 | 6215 | OMIM:619196 | DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040282 - Frequent | | | 289 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MERTK CL E G H | 10461 | 7027 | OMIM:613862 | Retinitis pigmentosa 38 | . | | | 75 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | . | | | 25 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | | | | 65 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040282 - Frequent | | | 1952 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 157 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NPHP4 CL E G H | 261734 | 19104 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 220 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | OAT CL E G H | 4942 | 8091 | ORPHA:414 | Gyrate atrophy of choroid and retina | HP:0040281 - Very frequent | | | 94 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040281 - Very frequent | | | 214 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | . | | | 214 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PAK2 CL E G H | 5062 | 8591 | ORPHA:1571 | Knobloch syndrome | HP:0040282 - Frequent | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040283 - Occasional | | | 72 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040283 - Occasional | | | 45 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | | | | 103 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | . | | | 172 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 159 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040281 - Very frequent | | | 159 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PRPS1 CL E G H | 5631 | 9462 | OMIM:311070 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | | | | 49 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | RAX2 CL E G H | 84839 | 18286 | OMIM:610381 | Cone-Rod dystrophy 11 | | | | 52 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040281 - Very frequent | | | 32 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040281 - Very frequent | | | 107 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040281 - Very frequent | | | 47 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040281 - Very frequent | | | 47 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | RP1L1 CL E G H | 94137 | 15946 | OMIM:613587 | OCCULT MACULAR DYSTROPHY; OCMD | | | | 284 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | . | | | 48 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SH3BP2 CL E G H | 6452 | 10825 | ORPHA:184 | Cherubism | HP:0040283 - Occasional | | | 177 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | . | | | 14 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TGFBI CL E G H | 7045 | 11771 | OMIM:122200 | Corneal dystrophy, lattice type I | . | | | 58 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | | | | 58 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | | | | 58 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TPP1 CL E G H | 1200 | 2073 | OMIM:204500 | Ceroid lipofuscinosis, neuronal, 2 | . | | | 203 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TRAF3IP1 CL E G H | 26146 | 17861 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TRIM44 CL E G H | 54765 | 19016 | OMIM:617142 | Aniridia 3 | . | | | 1 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | WDR19 CL E G H | 57728 | 18340 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 95 | | |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616468 | Exudative vitreoretinopathy 6 | . | | | 14 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 88 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | DNM1L CL E G H | 10059 | 2973 | OMIM:610708 | Optic atrophy 5 | . | | | 94 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 24 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 124 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | 65 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 159 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | RAX2 CL E G H | 84839 | 18286 | OMIM:610381 | Cone-Rod dystrophy 11 | . | | | 52 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | RP1L1 CL E G H | 94137 | 15946 | OMIM:613587 | OCCULT MACULAR DYSTROPHY; OCMD | | | | 284 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040283 - Occasional | | | 58 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | HP:0040281 - Very frequent | | | 58 | | |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |