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:0007685 | HP:0007685 | Peripheral retinal avascularization | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040281 - Very frequent | | | 88 | | |
HP:0007685 | HP:0007685 | Peripheral retinal avascularization | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0007685 | HP:0007685 | Peripheral retinal avascularization | 0 | FZD4 CL E G H | 8322 | 4042 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 109 | | |
HP:0007685 | HP:0007685 | Peripheral retinal avascularization | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040281 - Very frequent | | | 109 | | |
HP:0007685 | HP:0007685 | Peripheral retinal avascularization | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 125 | | |
HP:0007685 | HP:0007685 | Peripheral retinal avascularization | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | . | | | 125 | | |
HP:0007685 | HP:0007685 | Peripheral retinal avascularization | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040281 - Very frequent | | | 125 | | |
HP:0007685 | HP:0007685 | Peripheral retinal avascularization | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0007685 | HP:0007685 | Peripheral retinal avascularization | 0 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | | | | 39 | | |
HP:0007685 | HP:0007685 | Peripheral retinal avascularization | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040281 - Very frequent | | | 39 | | |
HP:0007685 | HP:0007685 | Peripheral retinal avascularization | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0007685 | HP:0007685 | Peripheral retinal avascularization | 0 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040281 - Very frequent | | | 39 | | |
HP:0007685 | HP:0007685 | Peripheral retinal avascularization | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040281 - Very frequent | | | 14 | | |