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:0002356 | HP:0002356 | Writer's cramp | 0 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | CASR CL E G H | 846 | 1514 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040281 - Very frequent | | | 272 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | CIZ1 CL E G H | 25792 | 16744 | ORPHA:420492 | Adult-onset cervical dystonia, DYT23 type | HP:0040282 - Frequent | | | 16 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:616411 | Dystonia 27 | . | | | 702 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:464440 | Primary dystonia, DYT27 type | HP:0040282 - Frequent | | | 702 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | DRD2 CL E G H | 1813 | 3023 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | . | | | 33 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040283 - Occasional | | | 33 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | . | | | 86 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040281 - Very frequent | | | 16 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040283 - Occasional | | | 12 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:98809 | Paroxysmal kinesigenic dyskinesia | HP:0040283 - Occasional | | | 145 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619724 | DYSTONIA 34, MYOCLONIC; DYT34 | | | | | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | KCTD17 CL E G H | 79734 | 25705 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98809 | Paroxysmal kinesigenic dyskinesia | HP:0040283 - Occasional | | | 94 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | SGCE CL E G H | 8910 | 10808 | OMIM:159900 | Dystonia 11, myoclonic | . | | | 49 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | SGCE CL E G H | 8910 | 10808 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:608105 | Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp | . | | | 271 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:163727 | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | TBP CL E G H | 6908 | 11588 | ORPHA:98759 | Spinocerebellar ataxia type 17 | HP:0040282 - Frequent | | | 7 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | THAP1 CL E G H | 55145 | 20856 | OMIM:602629 | Dystonia 6, torsion | . | | | 42 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | . | | | 47 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | TOR1A CL E G H | 1861 | 3098 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0002356 | HP:0002356 | Writer's cramp | 0 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |