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:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:601718 | Retinitis pigmentosa 19 | . | | | 826 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 826 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | ALDH3A2 CL E G H | 224 | 403 | OMIM:270200 | Sjogren-Larsson syndrome | . | | | 87 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | HP:0040284 - Very rare | | | 10 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:611809 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB | | | | 182 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | | | | 20 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | CDHR1 CL E G H | 92211 | 14550 | OMIM:613660 | CONE-ROD DYSTROPHY 15; CORD15 | | | | 147 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | HP:0040284 - Very rare | | | 82 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | HP:0040284 - Very rare | | | 194 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 194 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040282 - Frequent | | | 126 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | ELOVL4 CL E G H | 6785 | 14415 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | HP:0040284 - Very rare | | | 19 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | IDH3A CL E G H | 3419 | 5384 | OMIM:619007 | RETINITIS PIGMENTOSA 90; RP90 | | | | | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:613581 | RETINITIS PIGMENTOSA 56; RP56 | | | | 120 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | MFRP CL E G H | 83552 | 18121 | OMIM:611040 | Microphthalmia, isolated 5 | . | | | 26 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | | | | 201 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | HP:0040284 - Very rare | | | 80 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | HP:0040284 - Very rare | | | 14 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:608051 | Macular dystrophy, retinal, 2 | . | | | 110 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 110 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 159 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | | | | 2 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040283 - Occasional | | | 47 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | HP:0040284 - Very rare | | | 200 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:304020 | Cone-rod dystrophy, X-linked, 1 | | | | 200 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | SNRNP200 CL E G H | 23020 | 30859 | OMIM:610359 | Retinitis pigmentosa 33 | | | | 83 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | TIMP3 CL E G H | 7078 | 11822 | ORPHA:59181 | Sorsby pseudoinflammatory fundus dystrophy | HP:0040283 - Occasional | | | 95 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | TLCD3B CL E G H | 83723 | 25295 | OMIM:619531 | CONE-ROD DYSTROPHY 22; CORD22 | | | | | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | TOPORS CL E G H | 10210 | 21653 | OMIM:609923 | Retinitis pigmentosa 31 | | | | 61 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616959 | Retinitis pigmentosa and erythrocytic microcytosis | | | | 28 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | TUB CL E G H | 7275 | 12406 | OMIM:616188 | Retinal dystrophy and obesity | . | | | 1 | | |
HP:0007722 | HP:0007722 | Retinal pigment epithelial atrophy | 0 | VCAN CL E G H | 1462 | 2464 | OMIM:143200 | Wagner vitreoretinopathy | . | | | 180 | | |
HP:0007722 | HP:0007791 | Patchy atrophy of the retinal pigment epithelium | 1 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040282 - Frequent | | | 20 | | |
HP:0007722 | HP:0007791 | Patchy atrophy of the retinal pigment epithelium | 1 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |