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:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | CHST6 CL E G H | 4166 | 6938 | ORPHA:98969 | Macular corneal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | CHST6 CL E G H | 4166 | 6938 | OMIM:217800 | Macular dystrophy, corneal, 1 | . | | | 129 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | HP:0040281 - Very frequent | | | 129 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | . | | | 20 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | KRT3 CL E G H | 3850 | 6440 | OMIM:618767 | CORNEAL DYSTROPHY, MEESMANN, 2; MECD2 | | | | 3 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:121820 | Corneal dystrophy, epithelial basement membrane | . | | | 58 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:122200 | Corneal dystrophy, lattice type I | . | | | 58 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98962 | Granular corneal dystrophy type I | | | | 58 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98963 | Granular corneal dystrophy type II | | | | 58 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040282 - Frequent | | | 58 | | |
HP:0000495 | HP:0000495 | Recurrent corneal erosions | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | HP:0040282 - Frequent | | | 58 | | |