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:0007446 | HP:0007446 | Palmoplantar blistering | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79410 | Localized dystrophic epidermolysis bullosa, pretibial form | HP:0040282 - Frequent | | | 263 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79409 | Recessive dystrophic epidermolysis bullosa inversa | HP:0040283 - Occasional | | | 263 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | | | | 16 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | HP:0040283 - Occasional | | | 100 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | HP:0040282 - Frequent | | | 110 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131800 | Epidermolysis bullosa simplex, Weber-Cockayne type | . | | | 110 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040281 - Very frequent | | | 110 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 27 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 23 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619555 | EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A | | | | 173 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619588 | EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE; EBS2B | | | | 173 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619594 | EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C | | | | 173 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040281 - Very frequent | | | 173 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 41 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 4 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0007446 | HP:0007446 | Palmoplantar blistering | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:79401 | PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement | HP:0040282 - Frequent | | | 759 | | |