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:0012230 | HP:0012230 | Rhegmatogenous retinal detachment | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040282 - Frequent | | | 284 | | |
HP:0012230 | HP:0012230 | Rhegmatogenous retinal detachment | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609508 | STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR | | | | 284 | | |
HP:0012230 | HP:0012230 | Rhegmatogenous retinal detachment | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:619248 | VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED | | | | 284 | | |
HP:0012230 | HP:0012230 | Rhegmatogenous retinal detachment | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 88 | | |
HP:0012230 | HP:0012230 | Rhegmatogenous retinal detachment | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 109 | | |
HP:0012230 | HP:0012230 | Rhegmatogenous retinal detachment | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040284 - Very rare | | | 70 | | |
HP:0012230 | HP:0012230 | Rhegmatogenous retinal detachment | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040284 - Very rare | | | 62 | | |
HP:0012230 | HP:0012230 | Rhegmatogenous retinal detachment | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0012230 | HP:0012230 | Rhegmatogenous retinal detachment | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0012230 | HP:0012230 | Rhegmatogenous retinal detachment | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040284 - Very rare | | | 129 | | |
HP:0012230 | HP:0012230 | Rhegmatogenous retinal detachment | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040284 - Very rare | | | 48 | | |
HP:0012230 | HP:0012230 | Rhegmatogenous retinal detachment | 0 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0012230 | HP:0012230 | Rhegmatogenous retinal detachment | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 14 | | |