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:0031869 | HP:0031869 | Recurrent joint dislocation | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0031869 | HP:0031869 | Recurrent joint dislocation | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:619115 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1 | | | | 373 | | |
HP:0031869 | HP:0031869 | Recurrent joint dislocation | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | | | | 243 | | |
HP:0031869 | HP:0031869 | Recurrent joint dislocation | 0 | COL5A2 CL E G H | 1290 | 2210 | OMIM:130010 | Ehlers-Danlos syndrome, classic type, 2 | | | | 325 | | |
HP:0031869 | HP:0031869 | Recurrent joint dislocation | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0031869 | HP:0031869 | Recurrent joint dislocation | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0031869 | HP:0031869 | Recurrent joint dislocation | 0 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | | | | 5 | | |
HP:0031869 | HP:0031869 | Recurrent joint dislocation | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0031869 | HP:0031869 | Recurrent joint dislocation | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | | | | 1200 | | |
HP:0031869 | HP:0031610 | Recurrent shoulder dislocation | 1 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 243 | | |
HP:0031869 | HP:0005001 | Recurrent patellar dislocation | 1 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | | | | 5 | | |
HP:0031869 | HP:0005001 | Recurrent patellar dislocation | 1 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0031869 | HP:0005001 | Recurrent patellar dislocation | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | HP:0040283 - Occasional | | | 1200 | | |