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:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | ADCY5 CL E G H | 111 | 236 | OMIM:606703 | Dyskinesia, familial, with facial myokymia | | | | 25 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 239 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 150 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 449 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040283 - Occasional | | | 108 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | KCNMA1 CL E G H | 3778 | 6284 | ORPHA:79137 | Generalized epilepsy-paroxysmal dyskinesia syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:609446 | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | . | | | 114 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | | | | 6 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | PDE2A CL E G H | 5138 | 8777 | ORPHA:31709 | Infantile convulsions and choreoathetosis | HP:0040282 - Frequent | | | | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | PDE2A CL E G H | 5138 | 8777 | OMIM:619150 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS | | | | | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | PNKD CL E G H | 25953 | 9153 | ORPHA:98810 | Paroxysmal non-kinesigenic dyskinesia | HP:0040281 - Very frequent | | | 66 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:31709 | Infantile convulsions and choreoathetosis | HP:0040282 - Frequent | | | 94 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98811 | Paroxysmal exertion-induced dyskinesia | HP:0040281 - Very frequent | | | 94 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98810 | Paroxysmal non-kinesigenic dyskinesia | HP:0040281 - Very frequent | | | 94 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:31709 | Infantile convulsions and choreoathetosis | HP:0040282 - Frequent | | | 357 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 63 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:53583 | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | HP:0040281 - Very frequent | | | 255 | | |
HP:0007166 | HP:0007166 | Paroxysmal dyskinesia | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:98811 | Paroxysmal exertion-induced dyskinesia | HP:0040281 - Very frequent | | | 255 | | |