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:0007522 | HP:0007522 | Increased number of skin folds | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0007522 | HP:0007522 | Increased number of skin folds | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0007522 | HP:0007522 | Increased number of skin folds | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0007522 | HP:0007522 | Increased number of skin folds | 0 | GGCX CL E G H | 2677 | 4247 | ORPHA:436274 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0007522 | HP:0007522 | Increased number of skin folds | 0 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040281 - Very frequent | | | 4 | | |
HP:0007522 | HP:0007522 | Increased number of skin folds | 0 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040281 - Very frequent | | | 14 | | |