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:0200026 | HP:0200026 | Ocular pain | 0 | AGBL1 CL E G H | 123624 | 26504 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 3 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040284 - Very rare | | | 184 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | CHST6 CL E G H | 4166 | 6938 | ORPHA:98969 | Macular corneal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | HP:0040281 - Very frequent | | | 129 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 3 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 3 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040282 - Frequent | | | 178 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040284 - Very rare | | | 1 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040284 - Very rare | | | 16 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040284 - Very rare | | | 7 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 33 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 4 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:167400 | Paroxysmal extreme pain disorder | . | | | 318 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040284 - Very rare | | | 19 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:144755 | Hyperostosis cranialis interna | HP:0040284 - Very rare | | | 5 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | SLC4A11 CL E G H | 83959 | 16438 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 66 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 241 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98962 | Granular corneal dystrophy type I | | | | 58 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040282 - Frequent | | | 58 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | HP:0040282 - Frequent | | | 58 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 47 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 8 | | |
HP:0200026 | HP:0200026 | Ocular pain | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 8 | | |
HP:0200026 | HP:0030857 | Eye movement-induced pain | 1 | AGBL1 CL E G H | 123624 | 26504 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 3 | | |
HP:0200026 | HP:0030857 | Eye movement-induced pain | 1 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 3 | | |
HP:0200026 | HP:0030857 | Eye movement-induced pain | 1 | SLC4A11 CL E G H | 83959 | 16438 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 66 | | |
HP:0200026 | HP:0030857 | Eye movement-induced pain | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 241 | | |
HP:0200026 | HP:0030857 | Eye movement-induced pain | 1 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 8 | | |