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:0007447 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 0 | AQP5 CL E G H | 362 | 638 | ORPHA:2337 | Non-epidermolytic palmoplantar keratoderma | HP:0040281 - Very frequent | | | 5 | | |
HP:0007447 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 0 | AQP5 CL E G H | 362 | 638 | OMIM:600231 | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB | | | | 5 | | |
HP:0007447 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 0 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | | | | 222 | | |
HP:0007447 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 0 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0007447 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 100 | | |
HP:0007447 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:79503 | Ichthyosis hystrix of Curth-Macklin | HP:0040281 - Very frequent | | | 100 | | |
HP:0007447 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | HP:0040281 - Very frequent | | | 100 | | |
HP:0007447 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 27 | | |
HP:0007447 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 0 | KRT9 CL E G H | 3857 | 6447 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 66 | | |
HP:0007447 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 0 | RHBDF2 CL E G H | 79651 | 20788 | OMIM:148500 | Tylosis with esophageal cancer | . | | | 80 | | |
HP:0007447 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 0 | SERPINA12 CL E G H | 145264 | 18359 | ORPHA:86923 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type | HP:0040281 - Very frequent | | | | | |
HP:0007447 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 0 | SLURP1 CL E G H | 57152 | 18746 | ORPHA:86923 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type | HP:0040281 - Very frequent | | | 15 | | |
HP:0007447 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | HP:0040281 - Very frequent | | | 94 | | |