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:0007530 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 0 | AAGAB CL E G H | 79719 | 25662 | OMIM:148600 | Palmoplantar keratoderma, punctate type IA | | | | 7 | | |
HP:0007530 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 0 | ATP2A2 CL E G H | 488 | 812 | OMIM:101900 | Acrokeratosis verruciformis | | | | 86 | | |
HP:0007530 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 0 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | HP:0040282 - Frequent | | | 86 | | |
HP:0007530 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | | | | 151 | | |
HP:0007530 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0007530 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | . | | | 173 | | |