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:0000618 | HP:0000618 | Blindness | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 826 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | . | | | 135 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040284 - Very rare | | | 135 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | . | | | 63 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 175 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 95 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:604393 | Leber congenital amaurosis 4 | . | | | 114 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 54 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040281 - Very frequent | | | 404 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 6 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 29 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | . | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ASPA CL E G H | 443 | 756 | OMIM:271900 | Canavan disease | | | | 48 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | HP:0040283 - Occasional | | | 48 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ATIC CL E G H | 471 | 794 | ORPHA:250977 | AICA-ribosiduria | | | | 4 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ATIC CL E G H | 471 | 794 | OMIM:608688 | Aicar transformylase/imp cyclohydrolase deficiency | | | | 4 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | . | | | 150 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:551500 | Neuropathy, ataxia, and retinitis pigmentosa | . | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | HP:0040283 - Occasional | | | 8 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | . | | | 43 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | . | | | 17 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 184 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 114 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 97 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 182 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:193220 | VITREORETINOCHOROIDOPATHY | . | | | 182 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | C1QTNF5 CL E G H | 114902 | 14344 | OMIM:605670 | Late-Onset retinal degeneration | . | | | 20 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 23 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CAPN5 CL E G H | 726 | 1482 | OMIM:193235 | Vitreoretinopathy, neovascular inflammatory | | | | 6 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 247 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CD109 CL E G H | 135228 | 21685 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 636 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040283 - Occasional | | | 636 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1573 | Hypotrichosis with juvenile macular degeneration | HP:0040281 - Very frequent | | | 87 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CDH3 CL E G H | 1001 | 1762 | OMIM:601553 | Hypotrichosis, congenital, with juvenile macular dystrophy | | | | 87 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 147 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CEP164 CL E G H | 22897 | 29182 | OMIM:614845 | Nephronophthisis 15 | HP:0040283 - Occasional | | | 34 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 342 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 71 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:53 | Albers-Schönberg osteopetrosis | HP:0040283 - Occasional | | | 102 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 60 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 44 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 164 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | . | | | 284 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 156 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | . | | | 158 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 158 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 88 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040283 - Occasional | | | 126 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | DHX37 CL E G H | 57647 | 17210 | OMIM:618731 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC | | | | 2 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | HP:0040283 - Occasional | | | 42 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | HP:0040283 - Occasional | | | 24 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | HP:0040283 - Occasional | | | 32 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | HP:0040283 - Occasional | | | 38 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | HP:0040283 - Occasional | | | 48 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | | | | 158 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 209 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 56 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 59 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | . | | | 1361 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | HP:0040283 - Occasional | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040284 - Very rare | | | 157 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | . | HP:0003581 - Adult onset | | 111 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 61 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040281 - Very frequent | | | 353 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040281 - Very frequent | | | 263 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 26 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FZD4 CL E G H | 8322 | 4042 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 109 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 109 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:90050 | Retinopathy of prematurity | HP:0040283 - Occasional | | | 109 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | . | | | 160 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040284 - Very rare | | | 29 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040281 - Very frequent | | | 120 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | . | | | 69 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040284 - Very rare | | | 34 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | . | | | 101 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GNAT1 CL E G H | 2779 | 4393 | OMIM:610444 | Night blindness, congenital stationary, autosomal dominant 3 | . | | | 39 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GP1BA CL E G H | 2811 | 4439 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 23 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 8 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040281 - Very frequent | | | 80 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 36 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:204000 | Leber congenital amaurosis, type I | . | | | 124 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 86 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 4 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040282 - Frequent | | | 19 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 60 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 148 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | . | | | 148 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 52 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 120 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ITGA2 CL E G H | 3673 | 6137 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 119 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 69 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 80 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:617914 | Microcephaly 20, primary, autosomal recessive | . | | | 9 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 42 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | . | | | 92 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 8 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:613341 | Leber congenital amaurosis 14 | | | | 62 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 62 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 125 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | . | | | 125 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | | | | 125 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:259770 | Osteoporosis-Pseudoglioma syndrome | . | | | 125 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:90050 | Retinopathy of prematurity | HP:0040283 - Occasional | | | 125 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 53 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 281 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 462 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 75 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:610951 | Ceroid lipofuscinosis, neuronal, 7 | . | | | 120 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | MTR CL E G H | 4548 | 7468 | OMIM:250940 | Homocystinuria-megaloblastic anemia, cblg Complementation type | HP:0040283 - Occasional | | | 217 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | MTRR CL E G H | 4552 | 7473 | OMIM:236270 | Homocystinuria-megaloblastic anemia, cbl E type | HP:0040283 - Occasional | | | 88 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040284 - Very rare | | | 81 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | HP:0040281 - Very frequent | | | 96 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040281 - Very frequent | | | 39 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | . | HP:0003593 - Infantile onset | | 39 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:90050 | Retinopathy of prematurity | HP:0040283 - Occasional | | | 39 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 7 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 32 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 1 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 40 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 26 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 31 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 34 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 3 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 9 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 16 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 81 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 65 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 22 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 27 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | . | | | 27 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 21 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 38 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 42 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFV1 CL E G H | 4723 | 7716 | OMIM:618225 | Mitochondrial complex I deficiency, nuclear type 4 | | | | 74 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 27 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 220 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040283 - Occasional | | | 220 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040283 - Occasional | | | 217 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 58 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NRL CL E G H | 4901 | 8002 | OMIM:613750 | Retinitis pigmentosa 27 | . | | | 30 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NSMCE2 CL E G H | 286053 | 26513 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | | | | 2 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 89 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | OAT CL E G H | 4942 | 8091 | ORPHA:414 | Gyrate atrophy of choroid and retina | HP:0040282 - Frequent | | | 94 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | OAT CL E G H | 4942 | 8091 | OMIM:258870 | Ornithine aminotransferase deficiency | . | | | 94 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 201 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | HP:0040283 - Occasional | | | 163 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | HP:0040284 - Very rare | | | 55 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216866 | Classic pantothenate kinase-associated neurodegeneration | HP:0040284 - Very rare | | | 55 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 126 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 18 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 9 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 88 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | HP:0040284 - Very rare | | | 21 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 162 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PIK3R2 CL E G H | 5296 | 8980 | OMIM:603387 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome | . | | | 12 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PITX3 CL E G H | 5309 | 9006 | OMIM:610623 | Cataract 11, multiple types | . | | | 6 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040283 - Occasional | | | 133 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PLG CL E G H | 5340 | 9071 | OMIM:217090 | Plasminogen deficiency, type iligneous conjunctivitis, included | . | | | 11 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | . | | | 105 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:726 | Alpers-Huttenlocher syndrome | HP:0040283 - Occasional | | | 464 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040284 - Very rare | | | 180 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 180 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040284 - Very rare | | | 18 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040284 - Very rare | | | 213 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040284 - Very rare | | | 221 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | . | HP:0011463 - Childhood onset | | 172 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 39 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 110 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PROS1 CL E G H | 5627 | 9456 | OMIM:614514 | Thrombophilia due to protein S deficiency, autosomal recessive | . | | | 75 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 70 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | . | | | 70 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 51 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 94 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 159 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | HP:0040281 - Very frequent | | | 49 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 81 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 108 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RD3 CL E G H | 343035 | 19689 | OMIM:610612 | Leber congenital amaurosis 12 | | | | 95 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 107 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RHO CL E G H | 6010 | 10012 | OMIM:613731 | Retinitis pigmentosa 4 | . | | | 107 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 38 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 111 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 284 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:204100 | Leber congenital amaurosis, type II | . | | | 129 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 200 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 32 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | | | | 4 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:609634 | Migraine, familial hemiplegic, 3 | . | | | 1053 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040284 - Very rare | | | 304 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040284 - Very rare | | | 16 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040284 - Very rare | | | 237 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040284 - Very rare | | | 129 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610282 | Retinitis pigmentosa 35 | . | | | 48 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SLC24A1 CL E G H | 9187 | 10975 | OMIM:613830 | Night blindness, congenital stationary, type 1D | . | | | 66 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 87 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 47 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | HP:0040282 - Frequent | | | 174 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 22 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 83 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | . | | | 1 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 124 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | . | | | 271 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TCIRG1 CL E G H | 10312 | 11647 | OMIM:259700 | Osteopetrosis, autosomal recessive 1 | . | | | 82 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 238 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 1 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TIMP3 CL E G H | 7078 | 11822 | OMIM:136900 | Sorsby fundus dystrophy | . | | | 95 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TIMP3 CL E G H | 7078 | 11822 | ORPHA:59181 | Sorsby pseudoinflammatory fundus dystrophy | HP:0040283 - Occasional | | | 95 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 3 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 39 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 45 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 33 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 82 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | . | | | 166 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | . | | | 44 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 61 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 41 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 66 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | UFM1 CL E G H | 51569 | 20597 | OMIM:617899 | Leukodystrophy, hypomyelinating, 14 | HP:0040284 - Very rare | | | | | |
HP:0000618 | HP:0000618 | Blindness | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040284 - Very rare | | | 31 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040284 - Very rare | | | 41 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 777 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | WHRN CL E G H | 25861 | 16361 | OMIM:611383 | Usher syndrome, type IID | . | | | 155 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | | | | 9 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 49 | | |
HP:0000618 | HP:0000618 | Blindness | 0 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 27 | | |
HP:0000618 | HP:0007875 | Congenital blindness | 1 | ATIC CL E G H | 471 | 794 | ORPHA:250977 | AICA-ribosiduria | HP:0040281 - Very frequent | | | 4 | | |
HP:0000618 | HP:0007875 | Congenital blindness | 1 | ATIC CL E G H | 471 | 794 | OMIM:608688 | Aicar transformylase/imp cyclohydrolase deficiency | . | | | 4 | | |
HP:0000618 | HP:0007875 | Congenital blindness | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0000618 | HP:0007875 | Congenital blindness | 1 | LRAT CL E G H | 9227 | 6685 | OMIM:613341 | Leber congenital amaurosis 14 | . | | | 62 | | |
HP:0000618 | HP:0007875 | Congenital blindness | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0000618 | HP:0007875 | Congenital blindness | 1 | NSMCE2 CL E G H | 286053 | 26513 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000618 | HP:0007875 | Congenital blindness | 1 | RD3 CL E G H | 343035 | 19689 | OMIM:610612 | Leber congenital amaurosis 12 | . | HP:0003577 - Congenital onset | | 95 | | |
HP:0000618 | HP:0007875 | Congenital blindness | 1 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | HP:0040283 - Occasional | | | 4 | | |
HP:0000618 | HP:0007875 | Congenital blindness | 1 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | HP:0040283 - Occasional | | | 9 | | |