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:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 826 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 10 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:551500 | Neuropathy, ataxia, and retinitis pigmentosa | . | | | | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | CACNA2D4 CL E G H | 93589 | 20202 | OMIM:610478 | Retinal cone dystrophy 4 | | | | 129 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 82 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 194 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 194 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | | | | 178 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040283 - Occasional | | | 126 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | ELOVL4 CL E G H | 6785 | 14415 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 19 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 124 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | | | | 4 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 70 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 62 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 80 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 14 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | PISD CL E G H | 23761 | 8999 | OMIM:618889 | LIBERFARB SYNDROME; LIBF | | | | 1 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | PITPNM3 CL E G H | 83394 | 21043 | OMIM:600977 | Cone-Rod dystrophy 5 | | | | 135 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:608051 | Macular dystrophy, retinal, 2 | | | | 110 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 110 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 159 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 159 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 159 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 32 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 107 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040282 - Frequent | | | 47 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 47 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 200 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:304020 | Cone-rod dystrophy, X-linked, 1 | | | | 200 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | HP:0040280 - Obligate | | | | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | SLC6A6 CL E G H | 6533 | 11052 | OMIM:145350 | Hypotaurinemic retinal degeneration and cardiomyopathy | | | | | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | TUBB4B CL E G H | 10383 | 20771 | OMIM:617879 | Leber congenital amaurosis with early-onset deafness | | | | | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0007814 | HP:0007814 | Retinal pigment epithelial mottling | 0 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0007814 | HP:0007793 | Granular macular appearance | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 86 | | |
HP:0007814 | HP:0007793 | Granular macular appearance | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 57 | | |
HP:0007814 | HP:0007793 | Granular macular appearance | 1 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0007814 | HP:0007793 | Granular macular appearance | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 54 | | |
HP:0007814 | HP:0007793 | Granular macular appearance | 1 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0007814 | HP:0007793 | Granular macular appearance | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0007814 | HP:0007793 | Granular macular appearance | 1 | PROM1 CL E G H | 8842 | 9454 | OMIM:608051 | Macular dystrophy, retinal, 2 | . | | | 110 | | |
HP:0007814 | HP:0007793 | Granular macular appearance | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0007814 | HP:0007793 | Granular macular appearance | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |