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:0000531 | HP:0000531 | Corneal crystals | 0 | CHST6 CL E G H | 4166 | 6938 | ORPHA:98969 | Macular corneal dystrophy | HP:0040281 - Very frequent | | | 129 | | |
HP:0000531 | HP:0000531 | Corneal crystals | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219750 | Cystinosis, adult nonnephropathic | . | | | 178 | | |
HP:0000531 | HP:0000531 | Corneal crystals | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | . | | | 178 | | |
HP:0000531 | HP:0000531 | Corneal crystals | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0000531 | HP:0000531 | Corneal crystals | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | HP:0040281 - Very frequent | | | 178 | | |
HP:0000531 | HP:0000531 | Corneal crystals | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040282 - Frequent | | | 178 | | |
HP:0000531 | HP:0000531 | Corneal crystals | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411641 | Ocular cystinosis | HP:0040281 - Very frequent | | | 178 | | |
HP:0000531 | HP:0000531 | Corneal crystals | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98962 | Granular corneal dystrophy type I | | | | 58 | | |
HP:0000531 | HP:0000531 | Corneal crystals | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98963 | Granular corneal dystrophy type II | | | | 58 | | |