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:0003834 | HP:0003834 | Shoulder dislocation | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | . | | | | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | ARF1 CL E G H | 375 | 652 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | ARFGEF2 CL E G H | 10564 | 15853 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | 179 | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 5 | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 165 | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | | | | 243 | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | 36 | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | 493 | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | MAP1B CL E G H | 4131 | 6836 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | NEDD4L CL E G H | 23327 | 7728 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | 30 | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0003834 | HP:0003834 | Shoulder dislocation | 0 | TMTC3 CL E G H | 160418 | 26899 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | 5 | | |
HP:0003834 | HP:0031610 | Recurrent shoulder dislocation | 1 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 243 | | |