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:0006201 | HP:0006201 | Hypermobility of distal interphalangeal joints | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 243 | | |
HP:0006201 | HP:0006201 | Hypermobility of distal interphalangeal joints | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | . | | | 749 | | |
HP:0006201 | HP:0006201 | Hypermobility of distal interphalangeal joints | 0 | ECEL1 CL E G H | 9427 | 3147 | OMIM:615065 | Arthrogryposis, distal, type 5D | | | | 37 | | |