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:0000559 | HP:0000559 | Corneal scarring | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 263 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | . | | | 108 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040283 - Occasional | | | 250 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | | | | 158 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | MMP1 CL E G H | 4312 | 7155 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 6 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | . | | | 2 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040284 - Very rare | | | 97 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | PRDM12 CL E G H | 59335 | 13997 | OMIM:616488 | Neuropathy, hereditary sensory and autonomic, type VIII | . | | | 6 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | HP:0040282 - Frequent | | | 58 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:602082 | Corneal dystrophy of bowman layer, type II | . | | | 58 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040281 - Very frequent | | | 58 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | . | | | 41 | | |
HP:0000559 | HP:0000559 | Corneal scarring | 0 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | HP:0040282 - Frequent | | | 397 | | |