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:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | ADAMTS18 CL E G H | 170692 | 17110 | OMIM:615458 | Microcornea, myopic chorioretinal atrophy, and telecanthus | HP:0040283 - Occasional | | | 8 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | ARL2BP CL E G H | 23568 | 17146 | OMIM:615434 | Retinitis pigmentosa with or without situs inversus | HP:0040283 - Occasional | | | 3 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618173 | RETINITIS PIGMENTOSA 83; RP83 | | | | 1 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | CHMP4B CL E G H | 128866 | 16171 | OMIM:605387 | Cataract 31, multiple types | | | | 4 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | | | | 1 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | HP:0040284 - Very rare | | | 209 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:116200 | Cataract 1, multiple types | . | | | 34 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | IDH3B CL E G H | 3420 | 5385 | OMIM:612572 | RETINITIS PIGMENTOSA 46; RP46 | | | | 30 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | HP:0040284 - Very rare | | | 52 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:613581 | RETINITIS PIGMENTOSA 56; RP56 | | | | 120 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040282 - Frequent | | | 220 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | OAT CL E G H | 4942 | 8091 | OMIM:258870 | Ornithine aminotransferase deficiency | . | | | 94 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | HP:0040283 - Occasional | | | 201 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | HP:0040283 - Occasional | | | 163 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | PDE6A CL E G H | 5145 | 8785 | OMIM:613810 | RETINITIS PIGMENTOSA 43; RP43 | | | | 116 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:615233 | Retinitis pigmentosa 66 | . | | | 108 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | REEP6 CL E G H | 92840 | 30078 | OMIM:617304 | Retinitis pigmentosa 77 | . | | | 5 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | | | | | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | SPRTN CL E G H | 83932 | 25356 | OMIM:616200 | Ruijs-Aalfs syndrome | . | | | 3 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:600132 | RETINITIS PIGMENTOSA 14; RP14 | | | | 66 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:616279 | Cataract 43 | | | | 1 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:605822 | Spondyloocular syndrome | | | | 5 | | |
HP:0007787 | HP:0007787 | Posterior subcapsular cataract | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | . | | | 14 | | |
HP:0007787 | HP:0007889 | Iridescent posterior subcapsular cataract | 1 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | . | | | 1 | | |
HP:0007787 | HP:0007935 | Juvenile posterior subcapsular lenticular opacities | 1 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |