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:0012804 | HP:0012804 | Corneal ulceration | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 199 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 55 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | . | | | 20 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040282 - Frequent | | | 53 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040284 - Very rare | | | 645 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040284 - Very rare | | | 81 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | . | | | 32 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040284 - Very rare | | | 97 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | PRDM12 CL E G H | 59335 | 13997 | OMIM:616488 | Neuropathy, hereditary sensory and autonomic, type VIII | . | | | 6 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | TAT CL E G H | 6898 | 11573 | OMIM:276600 | Tyrosine transaminase deficiency | | | | 43 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040283 - Occasional | | | 31 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |
HP:0012804 | HP:0012804 | Corneal ulceration | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040284 - Very rare | | | 83 | | |
HP:0012804 | HP:0007812 | Herpetiform corneal ulceration | 1 | TAT CL E G H | 6898 | 11573 | OMIM:276600 | Tyrosine transaminase deficiency | . | | | 43 | | |