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:0008039 | HP:0008039 | Subepithelial corneal opacities | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | HP:0040281 - Very frequent | | | 129 | | |
HP:0008039 | HP:0008039 | Subepithelial corneal opacities | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98962 | Granular corneal dystrophy type I | | | | 58 | | |
HP:0008039 | HP:0008039 | Subepithelial corneal opacities | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98963 | Granular corneal dystrophy type II | | | | 58 | | |
HP:0008039 | HP:0008039 | Subepithelial corneal opacities | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040282 - Frequent | | | 58 | | |
HP:0008039 | HP:0008039 | Subepithelial corneal opacities | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | HP:0040281 - Very frequent | | | 58 | | |