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:0030490 | HP:0030490 | Exudative vitreoretinopathy | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0030490 | HP:0030490 | Exudative vitreoretinopathy | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:617572 | Exudative vitreoretinopathy 7 | | | | 88 | | |
HP:0030490 | HP:0030490 | Exudative vitreoretinopathy | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | HP:0040284 - Very rare | | | 88 | | |
HP:0030490 | HP:0030490 | Exudative vitreoretinopathy | 0 | FZD4 CL E G H | 8322 | 4042 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 109 | | |
HP:0030490 | HP:0030490 | Exudative vitreoretinopathy | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 125 | | |
HP:0030490 | HP:0030490 | Exudative vitreoretinopathy | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | . | | | 125 | | |
HP:0030490 | HP:0030490 | Exudative vitreoretinopathy | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0030490 | HP:0030490 | Exudative vitreoretinopathy | 0 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | . | | | 39 | | |
HP:0030490 | HP:0030490 | Exudative vitreoretinopathy | 0 | TSPAN12 CL E G H | 23554 | 21641 | OMIM:613310 | Exudative vitreoretinopathy 5 | . | | | 39 | | |
HP:0030490 | HP:0030490 | Exudative vitreoretinopathy | 0 | VCAN CL E G H | 1462 | 2464 | OMIM:143200 | Wagner vitreoretinopathy | HP:0040283 - Occasional | | | 180 | | |
HP:0030490 | HP:0030490 | Exudative vitreoretinopathy | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616468 | Exudative vitreoretinopathy 6 | . | | | 14 | | |