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:0200020 | HP:0200020 | Corneal erosion | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 130 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 75 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 63 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | CERS3 CL E G H | 204219 | 23752 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 5 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | CHST6 CL E G H | 4166 | 6938 | ORPHA:98969 | Macular corneal dystrophy | | | | 129 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | CHST6 CL E G H | 4166 | 6938 | OMIM:217800 | Macular dystrophy, corneal, 1 | | | | 129 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040283 - Occasional | | | 6 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | | | | 129 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | COL17A1 CL E G H | 1308 | 2194 | OMIM:122400 | Epithelial recurrent erosion dystrophy | . | | | 129 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 161 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 174 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040283 - Occasional | | | 263 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79409 | Recessive dystrophic epidermolysis bullosa inversa | HP:0040283 - Occasional | | | 263 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040282 - Frequent | | | 133 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | | | | 133 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040283 - Occasional | | | 170 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | | | | 136 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | | | | 20 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | HP:0040283 - Occasional | | | 199 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | KRT3 CL E G H | 3850 | 6440 | OMIM:618767 | CORNEAL DYSTROPHY, MEESMANN, 2; MECD2 | | | | 3 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 60 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | | | | 97 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | | | | 194 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | PERCC1 CL E G H | 105371045 | 52293 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040283 - Occasional | | | | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | HP:0040283 - Occasional | | | 21 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | PNPLA1 CL E G H | 285848 | 21246 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 47 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | HP:0040283 - Occasional | | | 58 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040283 - Occasional | | | 55 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | SPINT2 CL E G H | 10653 | 11247 | OMIM:270420 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | . | | | 6 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:602082 | Corneal dystrophy of bowman layer, type II | | | | 58 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:121820 | Corneal dystrophy, epithelial basement membrane | | | | 58 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:122200 | Corneal dystrophy, lattice type I | | | | 58 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:608471 | Corneal dystrophy, lattice type IIIA | . | | | 58 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:608470 | Corneal dystrophy, Reis-Bucklers type | | | | 58 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98962 | Granular corneal dystrophy type I | | | | 58 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98963 | Granular corneal dystrophy type II | | | | 58 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | | | | 58 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | | | | 58 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 98 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | | | | 177 | | |
HP:0200020 | HP:0200020 | Corneal erosion | 0 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | HP:0040283 - Occasional | | | 397 | | |
HP:0200020 | HP:0000584 | Punctate corneal epithelial erosions | 1 | CL E G H | | | | | | | | | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | CHST6 CL E G H | 4166 | 6938 | ORPHA:98969 | Macular corneal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | CHST6 CL E G H | 4166 | 6938 | OMIM:217800 | Macular dystrophy, corneal, 1 | . | | | 129 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | HP:0040281 - Very frequent | | | 129 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | . | | | 20 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | KRT3 CL E G H | 3850 | 6440 | OMIM:618767 | CORNEAL DYSTROPHY, MEESMANN, 2; MECD2 | | | | 3 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0200020 | HP:0007755 | Juvenile epithelial corneal dystrophy | 1 | TGFBI CL E G H | 7045 | 11771 | OMIM:602082 | Corneal dystrophy of bowman layer, type II | . | | | 58 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | TGFBI CL E G H | 7045 | 11771 | OMIM:121820 | Corneal dystrophy, epithelial basement membrane | . | | | 58 | | |
HP:0200020 | HP:0007690 | Map-dot-fingerprint corneal dystrophy | 1 | TGFBI CL E G H | 7045 | 11771 | OMIM:121820 | Corneal dystrophy, epithelial basement membrane | . | | | 58 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | TGFBI CL E G H | 7045 | 11771 | OMIM:122200 | Corneal dystrophy, lattice type I | . | | | 58 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98962 | Granular corneal dystrophy type I | | | | 58 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98963 | Granular corneal dystrophy type II | | | | 58 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040282 - Frequent | | | 58 | | |
HP:0200020 | HP:0000495 | Recurrent corneal erosions | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | HP:0040282 - Frequent | | | 58 | | |