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:0008401 | HP:0008401 | Onychogryposis of toenails | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | HP:0040282 - Frequent | | | 263 | | |
HP:0008401 | HP:0008401 | Onychogryposis of toenails | 0 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0008401 | HP:0008401 | Onychogryposis of toenails | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 27 | | |
HP:0008401 | HP:0008401 | Onychogryposis of toenails | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 23 | | |
HP:0008401 | HP:0008401 | Onychogryposis of toenails | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 41 | | |
HP:0008401 | HP:0008401 | Onychogryposis of toenails | 0 | KRT6A CL E G H | 3853 | 6443 | OMIM:615726 | Pachyonychia congenita 3 | . | | | 41 | | |
HP:0008401 | HP:0008401 | Onychogryposis of toenails | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 4 | | |
HP:0008401 | HP:0008401 | Onychogryposis of toenails | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:131950 | Epidermolysis bullosa simplex, Ogna type | . | | | 759 | | |