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:0005588 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:65282 | Carvajal syndrome | HP:0040281 - Very frequent | | | 747 | | |
HP:0005588 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 68 | | |
HP:0005588 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 0 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 74 | | |
HP:0005588 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 0 | GJB3 CL E G H | 2707 | 4285 | OMIM:133200 | Erythrokeratodermia variabilis et progressiva 1 | . | | | 74 | | |
HP:0005588 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 0 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 12 | | |
HP:0005588 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 0 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 4 | | |