Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 39 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000529 | HP:0000529 | Progressive 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:0000529 | HP:0000529 | Progressive visual loss | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000529 | HP:0000529 | Progressive 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:0000529 | HP:0000529 | Progressive visual loss | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | | | | 276 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040282 - Frequent | | | 35 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CDHR1 CL E G H | 92211 | 14550 | OMIM:613660 | CONE-ROD DYSTROPHY 15; CORD15 | | | | 147 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CEP164 CL E G H | 22897 | 29182 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CFH CL E G H | 3075 | 4883 | OMIM:126700 | Basal laminar drusen | . | | | 86 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CFI CL E G H | 3426 | 5394 | OMIM:615439 | Macular degeneration, age-related, 13 | . | | | 57 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CHM CL E G H | 1121 | 1940 | ORPHA:180 | Choroideremia | HP:0040282 - Frequent | | | 47 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | . | | | 47 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CLN5 CL E G H | 1203 | 2076 | OMIM:256731 | Ceroid lipofuscinosis, neuronal, 5 | . | | | 141 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:601780 | Ceroid lipofuscinosis, neuronal, 6 | . | | | 143 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CLN8 CL E G H | 2055 | 2079 | OMIM:600143 | Ceroid lipofuscinosis, neuronal, 8 | . | | | 111 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040282 - Frequent | | | 111 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | HP:0040281 - Very frequent | | | 129 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | COL18A1 CL E G H | 80781 | 2195 | ORPHA:1571 | Knobloch syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | | | | 88 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | . | | | 126 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | DCN CL E G H | 1634 | 2705 | OMIM:610048 | Corneal dystrophy, congenital stromal | . | | | 31 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:610708 | Optic atrophy 5 | | | | 94 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | . | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | | | | 76 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 24 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | GUCA1A CL E G H | 2978 | 4678 | OMIM:602093 | Cone dystrophy 3 | . | | | 24 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 124 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 262 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | . | | | 148 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | INVS CL E G H | 27130 | 17870 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 106 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619196 | DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040282 - Frequent | | | 289 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | MERTK CL E G H | 10461 | 7027 | OMIM:613862 | Retinitis pigmentosa 38 | . | | | 75 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | | | | 65 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040282 - Frequent | | | 1952 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 157 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | NPHP4 CL E G H | 261734 | 19104 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 220 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | OAT CL E G H | 4942 | 8091 | ORPHA:414 | Gyrate atrophy of choroid and retina | HP:0040281 - Very frequent | | | 94 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040281 - Very frequent | | | 214 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | . | | | 214 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | PAK2 CL E G H | 5062 | 8591 | ORPHA:1571 | Knobloch syndrome | HP:0040282 - Frequent | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040283 - Occasional | | | 72 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040283 - Occasional | | | 45 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | | | | 103 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | . | | | 172 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 159 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040281 - Very frequent | | | 159 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:311070 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | | | | 49 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:610381 | Cone-Rod dystrophy 11 | | | | 52 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040281 - Very frequent | | | 32 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040281 - Very frequent | | | 107 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040281 - Very frequent | | | 47 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040281 - Very frequent | | | 47 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | RP1L1 CL E G H | 94137 | 15946 | OMIM:613587 | OCCULT MACULAR DYSTROPHY; OCMD | | | | 284 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | . | | | 48 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | SH3BP2 CL E G H | 6452 | 10825 | ORPHA:184 | Cherubism | HP:0040283 - Occasional | | | 177 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | . | | | 14 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:122200 | Corneal dystrophy, lattice type I | . | | | 58 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | | | | 58 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | | | | 58 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:204500 | Ceroid lipofuscinosis, neuronal, 2 | . | | | 203 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | TRIM44 CL E G H | 54765 | 19016 | OMIM:617142 | Aniridia 3 | . | | | 1 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:3156 | Senior-Loken syndrome | HP:0040282 - Frequent | | | 95 | | |
HP:0000529 | HP:0000529 | Progressive visual loss | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616468 | Exudative vitreoretinopathy 6 | . | | | 14 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 88 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | DNM1L CL E G H | 10059 | 2973 | OMIM:610708 | Optic atrophy 5 | . | | | 94 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 24 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 124 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | 65 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 159 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | RAX2 CL E G H | 84839 | 18286 | OMIM:610381 | Cone-Rod dystrophy 11 | . | | | 52 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | RP1L1 CL E G H | 94137 | 15946 | OMIM:613587 | OCCULT MACULAR DYSTROPHY; OCMD | | | | 284 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040283 - Occasional | | | 58 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | HP:0040281 - Very frequent | | | 58 | | |
HP:0000529 | HP:0007924 | Slow decrease in visual acuity | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |