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:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619845 | RETINITIS PIGMENTOSA 93; RP93 | | | | 247 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | CLCC1 CL E G H | 23155 | 29675 | OMIM:609913 | RETINITIS PIGMENTOSA 32; RP32 | | | | | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040282 - Frequent | | | 111 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | . | | | 156 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | | | | 156 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | CRX CL E G H | 1406 | 2383 | OMIM:613829 | Leber congenital amaurosis 7 | . | | | 158 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | | | | 209 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | . | | | 111 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | KIZ CL E G H | 55857 | 15865 | OMIM:615780 | Retinitis pigmentosa 69 | . | HP:0003596 - Middle age onset | | 3 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | LCA5 CL E G H | 167691 | 31923 | OMIM:604537 | Leber congenital amaurosis 5 | | | | 70 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 70 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:613341 | Leber congenital amaurosis 14 | . | | | 62 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 62 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | MYO7A CL E G H | 4647 | 7606 | OMIM:276900 | Usher syndrome, type I | . | | | 516 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 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:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | NR2E3 CL E G H | 10002 | 7974 | OMIM:268100 | Enhanced S-cone syndrome | . | | | 58 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | NRL CL E G H | 4901 | 8002 | OMIM:613750 | Retinitis pigmentosa 27 | . | | | 30 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | . | | | 172 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | PRCD CL E G H | 768206 | 32528 | OMIM:610599 | Retinitis pigmentosa 36 | . | | | 39 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:613826 | Leber congenital amaurosis 6 | . | | | 109 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:204500 | Ceroid lipofuscinosis, neuronal, 2 | . | | | 203 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:600132 | RETINITIS PIGMENTOSA 14; RP14 | | | | 66 | | |
HP:0000550 | HP:0000550 | Undetectable electroretinogram | 0 | USH1C CL E G H | 10083 | 12597 | OMIM:276900 | Usher syndrome, type I | . | | | 173 | | |