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:0011487 | HP:0011487 | Increased corneal thickness | 0 | DCN CL E G H | 1634 | 2705 | OMIM:610048 | Corneal dystrophy, congenital stromal | . | | | 31 | | |
HP:0011487 | HP:0011487 | Increased corneal thickness | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 17 | | |
HP:0011487 | HP:0011487 | Increased corneal thickness | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 175 | | |
HP:0011487 | HP:0011487 | Increased corneal thickness | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0011487 | HP:0011487 | Increased corneal thickness | 0 | SLC4A11 CL E G H | 83959 | 16438 | ORPHA:293603 | Congenital hereditary endothelial dystrophy type II | HP:0040281 - Very frequent | | | 66 | | |
HP:0011487 | HP:0011487 | Increased corneal thickness | 0 | SLC4A11 CL E G H | 83959 | 16438 | OMIM:217700 | CORNEAL ENDOTHELIAL DYSTROPHY; CHED | | | | 66 | | |