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:0000608 | HP:0000608 | Macular degeneration | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:153800 | Macular degeneration, age-related, 2 | | | | 826 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 826 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:248200 | Stargardt disease 1 | . | | | 826 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:177850 | Pseudoxanthoma elasticum, forme fruste | . | | | 415 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:604393 | Leber congenital amaurosis 4 | | | | 114 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ALDH3A2 CL E G H | 224 | 403 | OMIM:270200 | Sjogren-Larsson syndrome | . | | | 87 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 64 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 39 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ARL2BP CL E G H | 23568 | 17146 | OMIM:615434 | Retinitis pigmentosa with or without situs inversus | | | | 3 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040283 - Occasional | | | 78 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ATF6 CL E G H | 22926 | 791 | OMIM:616517 | ACHROMATOPSIA 7; ACHM7 | | | | 10 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 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:0000608 | HP:0000608 | Macular degeneration | 0 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | HP:0040283 - Occasional | | | 8 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:1243 | Best vitelliform macular dystrophy | | | | 182 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:153700 | Macular dystrophy, vitelliform, 2 | | | | 182 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040282 - Frequent | | | 20 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | C9 CL E G H | 735 | 1358 | OMIM:615591 | MACULAR DEGENERATION, AGE-RELATED, 15; ARMD15 | | | | 10 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1573 | Hypotrichosis with juvenile macular degeneration | HP:0040281 - Very frequent | | | 87 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CEP78 CL E G H | 84131 | 25740 | OMIM:617236 | CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL | | | | 9 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CFH CL E G H | 3075 | 4883 | OMIM:610698 | Macular degeneration, age-related, 4 | . | HP:0003584 - Late onset | | 86 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CFI CL E G H | 3426 | 5394 | OMIM:615439 | Macular degeneration, age-related, 13 | . | | | 57 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CNGB1 CL E G H | 1258 | 2151 | OMIM:613767 | Retinitis pigmentosa 45 | HP:0040283 - Occasional | | | 164 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 194 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | COL18A1 CL E G H | 80781 | 2195 | ORPHA:1571 | Knobloch syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040282 - Frequent | | | 115 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | CST3 CL E G H | 1471 | 2475 | OMIM:611953 | Macular degeneration, age-related, 11 | . | HP:0003584 - Late onset | | 3 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | DHX38 CL E G H | 9785 | 17211 | OMIM:618220 | Retinitis pigmentosa 84 | | | | 1 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | DRAM2 CL E G H | 128338 | 28769 | OMIM:616502 | Cone-Rod dystrophy 21 | | | | 9 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ELOVL4 CL E G H | 6785 | 14415 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:600110 | STARGARDT DISEASE 3; STGD3 | | | | 62 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:619764 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H | | | | 63 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:608895 | Macular degeneration, age-related, 3 | | | | 63 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:616118 | MACULAR DEGENERATION, EARLY-ONSET; EOMD | | | | 655 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230800 | Gaucher disease, type I | | | | | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | GRK1 CL E G H | 6011 | 10013 | ORPHA:75382 | Oguchi disease | HP:0040283 - Occasional | | | 4 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 24 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | GUCA1A CL E G H | 2978 | 4678 | OMIM:602093 | Cone dystrophy 3 | | | | 24 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | GUCA1B CL E G H | 2979 | 4679 | OMIM:613827 | RETINITIS PIGMENTOSA 48; RP48 | | | | 36 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 124 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | | | | 124 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | | | | 11 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | | | | 4 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 262 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | | | | 148 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | KCNV2 CL E G H | 169522 | 19698 | OMIM:610356 | Retinal cone dystrophy 3B | | | | 73 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | MAPKAPK3 CL E G H | 7867 | 6888 | OMIM:617111 | Macular dystrophy, patterned, 3 | | | | 1 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | MERTK CL E G H | 10461 | 7027 | OMIM:613862 | Retinitis pigmentosa 38 | | | | 75 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | NR2E3 CL E G H | 10002 | 7974 | OMIM:611131 | Retinitis pigmentosa 37 | | | | 58 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | NRL CL E G H | 4901 | 8002 | OMIM:613750 | Retinitis pigmentosa 27 | | | | 30 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PAK2 CL E G H | 5062 | 8591 | ORPHA:1571 | Knobloch syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | | | | 11 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PITPNM3 CL E G H | 83394 | 21043 | OMIM:600977 | Cone-Rod dystrophy 5 | | | | 135 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PLK4 CL E G H | 10733 | 11397 | OMIM:616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | | | | 11 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | . | | | 172 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PRCD CL E G H | 768206 | 32528 | OMIM:610599 | Retinitis pigmentosa 36 | . | | | 39 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 110 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:603786 | Stargardt disease 4 | . | | | 110 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | HP:0040283 - Occasional | | | 70 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 159 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608161 | Macular dystrophy, vitelliform, 3 | | | | 159 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | | | | 159 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 159 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:610381 | Cone-Rod dystrophy 11 | | | | 52 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:613757 | Macular degeneration, age-related, 6 | . | | | 52 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | | | | 32 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | | | | 107 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RIMS1 CL E G H | 22999 | 17282 | OMIM:603649 | CONE-ROD DYSTROPHY 7; CORD7 | | | | 102 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040282 - Frequent | | | 47 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RLBP1 CL E G H | 6017 | 10024 | OMIM:607475 | Bothnia retinal dystrophy | . | | | 47 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | | | | 47 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RP1L1 CL E G H | 94137 | 15946 | OMIM:618826 | RETINITIS PIGMENTOSA 88; RP88 | | | | 284 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RP9 CL E G H | 6100 | 10288 | OMIM:180104 | Retinitis pigmentosa 9 | | | | 14 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300834 | MACULAR DEGENERATION, X-LINKED ATROPHIC | | | | 200 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:608194 | CONE-ROD DYSTROPHY 13; CORD13 | | | | 109 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:75382 | Oguchi disease | HP:0040283 - Occasional | | | 32 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | . | | | | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | . | | | 48 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | SH3BP2 CL E G H | 6452 | 10825 | OMIM:118400 | Cherubism | | | | 177 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:212550 | Optic disc anomalies with retinal and/or macular dystrophy | | | | 20 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | SLC6A6 CL E G H | 6533 | 11052 | OMIM:145350 | Hypotaurinemic retinal degeneration and cardiomyopathy | | | | | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | HP:0003581 - Adult onset | | 287 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | OMIM:616629 | Senior-Loken syndrome 9 | . | | | 6 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | . | | | 41 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:616307 | Senior-Loken syndrome 8 | | | | 95 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | . | | | 189 | | |
HP:0000608 | HP:0000608 | Macular degeneration | 0 | ZNF513 CL E G H | 130557 | 26498 | OMIM:613617 | Retinitis pigmentosa 58 | | | | 27 | | |
HP:0000608 | HP:0025146 | Foveal degeneration | 1 | CL E G H | | | | | | | | | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | AIPL1 CL E G H | 23746 | 359 | OMIM:604393 | Leber congenital amaurosis 4 | . | | | 114 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | ARL2BP CL E G H | 23568 | 17146 | OMIM:615434 | Retinitis pigmentosa with or without situs inversus | . | | | 3 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | ATF6 CL E G H | 22926 | 791 | OMIM:616517 | ACHROMATOPSIA 7; ACHM7 | | | | 10 | | |
HP:0000608 | HP:0008028 | Cystoid macular degeneration | 1 | BEST1 CL E G H | 7439 | 12703 | ORPHA:1243 | Best vitelliform macular dystrophy | HP:0040281 - Very frequent | | | 182 | | |
HP:0000608 | HP:0008028 | Cystoid macular degeneration | 1 | BEST1 CL E G H | 7439 | 12703 | OMIM:153700 | Macular dystrophy, vitelliform, 2 | . | | | 182 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040283 - Occasional | | | 20 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 86 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 57 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | CFI CL E G H | 3426 | 5394 | OMIM:615439 | Macular degeneration, age-related, 13 | | | | 57 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | DHX38 CL E G H | 9785 | 17211 | OMIM:618220 | Retinitis pigmentosa 84 | . | | | 1 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | DRAM2 CL E G H | 128338 | 28769 | OMIM:616502 | Cone-Rod dystrophy 21 | . | | | 9 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 54 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:600110 | STARGARDT DISEASE 3; STGD3 | | | | 62 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:230800 | Gaucher disease, type I | . | | | | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 24 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | GUCA1A CL E G H | 2978 | 4678 | OMIM:602093 | Cone dystrophy 3 | HP:0040283 - Occasional | | | 24 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 124 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | . | | | 124 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | . | | | 11 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | | | | 4 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | . | | | 148 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | KCNV2 CL E G H | 169522 | 19698 | OMIM:610356 | Retinal cone dystrophy 3B | HP:0040283 - Occasional | | | 73 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | MAPKAPK3 CL E G H | 7867 | 6888 | OMIM:617111 | Macular dystrophy, patterned, 3 | . | | | 1 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | MERTK CL E G H | 10461 | 7027 | OMIM:613862 | Retinitis pigmentosa 38 | . | | | 75 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0000608 | HP:0008028 | Cystoid macular degeneration | 1 | NR2E3 CL E G H | 10002 | 7974 | OMIM:611131 | Retinitis pigmentosa 37 | . | | | 58 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | NRL CL E G H | 4901 | 8002 | OMIM:613750 | Retinitis pigmentosa 27 | . | | | 30 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | PLK4 CL E G H | 10733 | 11397 | OMIM:616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | HP:0040283 - Occasional | | | 70 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 159 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608161 | Macular dystrophy, vitelliform, 3 | . | | | 159 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040283 - Occasional | | | 159 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | RAX2 CL E G H | 84839 | 18286 | OMIM:610381 | Cone-Rod dystrophy 11 | . | | | 52 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040283 - Occasional | | | 32 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040283 - Occasional | | | 107 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | RIMS1 CL E G H | 22999 | 17282 | OMIM:603649 | CONE-ROD DYSTROPHY 7; CORD7 | | | | 102 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040283 - Occasional | | | 47 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | RP9 CL E G H | 6100 | 10288 | OMIM:180104 | Retinitis pigmentosa 9 | HP:0040283 - Occasional | | | 14 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | SH3BP2 CL E G H | 6452 | 10825 | OMIM:118400 | Cherubism | | | | 177 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | SIX6 CL E G H | 4990 | 10892 | OMIM:212550 | Optic disc anomalies with retinal and/or macular dystrophy | . | | | 20 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | SLC6A6 CL E G H | 6533 | 11052 | OMIM:145350 | Hypotaurinemic retinal degeneration and cardiomyopathy | | | | | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:616307 | Senior-Loken syndrome 8 | . | | | 95 | | |
HP:0000608 | HP:0007401 | Macular atrophy | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0000608 | HP:0200056 | Macular scar | 2 | CFI CL E G H | 3426 | 5394 | OMIM:615439 | Macular degeneration, age-related, 13 | . | | | 57 | | |
HP:0000608 | HP:0200056 | Macular scar | 2 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | HP:0040282 - Frequent | | | 4 | | |
HP:0000608 | HP:0200056 | Macular scar | 2 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0000608 | HP:0200056 | Macular scar | 2 | SH3BP2 CL E G H | 6452 | 10825 | OMIM:118400 | Cherubism | | | | 177 | | |
HP:0000608 | HP:0200056 | Macular scar | 2 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | HP:0040283 - Occasional | | | 44 | | |
HP:0000608 | HP:0025094 | Disciform macular scar | 3 | CL E G H | | | | | | | | | | |