Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 480 | 236 | 600293 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | AGA CL E G H | 175 | 93 | | | | ORPHA | 1 | | 413 | 318 | 613228 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | AP3B2 CL E G H | 8120 | 617276 | Epileptic encephalopathy, early infantile, 48 | 617276 | C4310637 | OMIM | 1 | | 437 | 567 | 602166 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 108 | 10549 | 611150 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | CUX2 CL E G H | 23316 | 618141 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 | 618141 | | OMIM | 1 | | 101 | 19347 | 610648 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | DDX3X CL E G H | 1654 | 457260 | | | | ORPHA | 1 | | 602 | 2745 | 300160 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 421 | 4082 | 600232 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | GABRB3 CL E G H | 2562 | 617113 | Epileptic encephalopathy, early infantile, 43 | 617113 | C4310712 | OMIM | 1 | | 732 | 4083 | 137192 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 600 | 4189 | 608801 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | GNAO1 CL E G H | 2775 | 617493 | Neurodevelopmental disorder with involuntary movements | 617493 | C4479569 | OMIM | 1 | | 358 | 4389 | 139311 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 735 | 4584 | 138249 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | GRIN2B CL E G H | 2904 | 616139 | Epileptic encephalopathy, early infantile, 27 | 616139 | C4015316 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 157 | 33882 | 607875 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | KCNA1 CL E G H | 3736 | 98809 | Paroxysmal kinesigenic dyskinesia | | CN207123 | ORPHA | 1 | | 476 | 6218 | 176260 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | KCNMA1 CL E G H | 3778 | 609446 | Generalized epilepsy and paroxysmal dyskinesia | 609446 | C1836173 | OMIM | 1 | | 868 | 6284 | 600150 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 85 | 19691 | 608205 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 21 | 17194 | 609435 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 104 | 7711 | 602694 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | NDUFS8 CL E G H | 4728 | 618222 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | 618222 | | OMIM | 1 | | 98 | 7715 | 602141 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | PDE10A CL E G H | 10846 | 616921 | Dyskinesia, limb and orofacial, infantile-onset | 616921 | C4310792 | OMIM | 1 | | 161 | 8772 | 610652 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | PNPT1 CL E G H | 87178 | 614932 | Combined oxidative phosphorylation deficiency 13 | 614932 | C3554129 | OMIM | 1 | | 526 | 23166 | 610316 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 163 | 9438 | 603424 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | PRRT2 CL E G H | 112476 | 98809 | Paroxysmal kinesigenic dyskinesia | | CN207123 | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 307 | 16499 | 300774 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 1914 | 10588 | 182390 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1494 | 10596 | 600702 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 229 | 24624 | 608005 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SLC2A1 CL E G H | 6513 | 612126 | GLUT1 deficiency syndrome 2 | 612126 | C1842534 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SLC30A9 CL E G H | 10463 | 617595 | Birk-Landau-Perez syndrome | 617595 | C4539828 | OMIM | 1 | | 30 | 1329 | 604604 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SLC46A1 CL E G H | 113235 | 229050 | Congenital defect of folate absorption | 229050 | C0342705 | OMIM | 1 | | 265 | 30521 | 611672 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | ST3GAL5 CL E G H | 8869 | 370938 | | | | ORPHA | 1 | | 309 | 10872 | 604402 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 50 | 11509 | 185605 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | TMEM43 CL E G H | 79188 | 604400 | Arrhythmogenic right ventricular cardiomyopathy, type 5 | 604400 | C1858379 | OMIM | 1 | | 740 | 28472 | 612048 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | XK CL E G H | 7504 | 300842 | McLeod neuroacanthocytosis syndrome | 300842 | C0398568 | OMIM | 1 | | 188 | 12811 | 314850 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 480 | 236 | 600293 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 480 | 236 | 600293 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 480 | 236 | 600293 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | AGA CL E G H | 175 | 93 | | | | ORPHA | 1 | | 413 | 318 | 613228 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | AGA CL E G H | 175 | 93 | | | | ORPHA | 1 | | 413 | 318 | 613228 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | AGA CL E G H | 175 | 93 | | | | ORPHA | 1 | | 413 | 318 | 613228 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | AP3B2 CL E G H | 8120 | 617276 | Epileptic encephalopathy, early infantile, 48 | 617276 | C4310637 | OMIM | 1 | | 437 | 567 | 602166 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | AP3B2 CL E G H | 8120 | 617276 | Epileptic encephalopathy, early infantile, 48 | 617276 | C4310637 | OMIM | 1 | | 437 | 567 | 602166 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | AP3B2 CL E G H | 8120 | 617276 | Epileptic encephalopathy, early infantile, 48 | 617276 | C4310637 | OMIM | 1 | | 437 | 567 | 602166 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 108 | 10549 | 611150 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 108 | 10549 | 611150 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 108 | 10549 | 611150 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | CUX2 CL E G H | 23316 | 618141 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 | 618141 | | OMIM | 1 | | 101 | 19347 | 610648 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | CUX2 CL E G H | 23316 | 618141 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 | 618141 | | OMIM | 1 | | 101 | 19347 | 610648 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | CUX2 CL E G H | 23316 | 618141 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 | 618141 | | OMIM | 1 | | 101 | 19347 | 610648 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | DDX3X CL E G H | 1654 | 457260 | | | | ORPHA | 1 | | 602 | 2745 | 300160 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | DDX3X CL E G H | 1654 | 457260 | | | | ORPHA | 1 | | 602 | 2745 | 300160 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | DDX3X CL E G H | 1654 | 457260 | | | | ORPHA | 1 | | 602 | 2745 | 300160 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 421 | 4082 | 600232 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 421 | 4082 | 600232 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 421 | 4082 | 600232 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | GABRB3 CL E G H | 2562 | 617113 | Epileptic encephalopathy, early infantile, 43 | 617113 | C4310712 | OMIM | 1 | | 732 | 4083 | 137192 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | GABRB3 CL E G H | 2562 | 617113 | Epileptic encephalopathy, early infantile, 43 | 617113 | C4310712 | OMIM | 1 | | 732 | 4083 | 137192 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | GABRB3 CL E G H | 2562 | 617113 | Epileptic encephalopathy, early infantile, 43 | 617113 | C4310712 | OMIM | 1 | | 732 | 4083 | 137192 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 600 | 4189 | 608801 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 600 | 4189 | 608801 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 600 | 4189 | 608801 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | GNAO1 CL E G H | 2775 | 617493 | Neurodevelopmental disorder with involuntary movements | 617493 | C4479569 | OMIM | 1 | | 358 | 4389 | 139311 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | GNAO1 CL E G H | 2775 | 617493 | Neurodevelopmental disorder with involuntary movements | 617493 | C4479569 | OMIM | 1 | | 358 | 4389 | 139311 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | GNAO1 CL E G H | 2775 | 617493 | Neurodevelopmental disorder with involuntary movements | 617493 | C4479569 | OMIM | 1 | | 358 | 4389 | 139311 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 735 | 4584 | 138249 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 735 | 4584 | 138249 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 735 | 4584 | 138249 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | GRIN2B CL E G H | 2904 | 616139 | Epileptic encephalopathy, early infantile, 27 | 616139 | C4015316 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | GRIN2B CL E G H | 2904 | 616139 | Epileptic encephalopathy, early infantile, 27 | 616139 | C4015316 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | GRIN2B CL E G H | 2904 | 616139 | Epileptic encephalopathy, early infantile, 27 | 616139 | C4015316 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 157 | 33882 | 607875 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 157 | 33882 | 607875 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 157 | 33882 | 607875 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | KCNA1 CL E G H | 3736 | 98809 | Paroxysmal kinesigenic dyskinesia | | CN207123 | ORPHA | 1 | | 476 | 6218 | 176260 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | KCNA1 CL E G H | 3736 | 98809 | Paroxysmal kinesigenic dyskinesia | | CN207123 | ORPHA | 1 | | 476 | 6218 | 176260 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | KCNA1 CL E G H | 3736 | 98809 | Paroxysmal kinesigenic dyskinesia | | CN207123 | ORPHA | 1 | | 476 | 6218 | 176260 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | KCNMA1 CL E G H | 3778 | 609446 | Generalized epilepsy and paroxysmal dyskinesia | 609446 | C1836173 | OMIM | 1 | | 868 | 6284 | 600150 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | KCNMA1 CL E G H | 3778 | 609446 | Generalized epilepsy and paroxysmal dyskinesia | 609446 | C1836173 | OMIM | 1 | | 868 | 6284 | 600150 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | KCNMA1 CL E G H | 3778 | 609446 | Generalized epilepsy and paroxysmal dyskinesia | 609446 | C1836173 | OMIM | 1 | | 868 | 6284 | 600150 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 85 | 19691 | 608205 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 85 | 19691 | 608205 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 85 | 19691 | 608205 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 21 | 17194 | 609435 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 21 | 17194 | 609435 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 21 | 17194 | 609435 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 104 | 7711 | 602694 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 104 | 7711 | 602694 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 104 | 7711 | 602694 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | NDUFS8 CL E G H | 4728 | 618222 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | 618222 | | OMIM | 1 | | 98 | 7715 | 602141 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | NDUFS8 CL E G H | 4728 | 618222 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | 618222 | | OMIM | 1 | | 98 | 7715 | 602141 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | NDUFS8 CL E G H | 4728 | 618222 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | 618222 | | OMIM | 1 | | 98 | 7715 | 602141 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | PDE10A CL E G H | 10846 | 616921 | Dyskinesia, limb and orofacial, infantile-onset | 616921 | C4310792 | OMIM | 1 | | 161 | 8772 | 610652 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | PDE10A CL E G H | 10846 | 616921 | Dyskinesia, limb and orofacial, infantile-onset | 616921 | C4310792 | OMIM | 1 | | 161 | 8772 | 610652 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | PDE10A CL E G H | 10846 | 616921 | Dyskinesia, limb and orofacial, infantile-onset | 616921 | C4310792 | OMIM | 1 | | 161 | 8772 | 610652 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | PNPT1 CL E G H | 87178 | 614932 | Combined oxidative phosphorylation deficiency 13 | 614932 | C3554129 | OMIM | 1 | | 526 | 23166 | 610316 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | PNPT1 CL E G H | 87178 | 614932 | Combined oxidative phosphorylation deficiency 13 | 614932 | C3554129 | OMIM | 1 | | 526 | 23166 | 610316 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | PNPT1 CL E G H | 87178 | 614932 | Combined oxidative phosphorylation deficiency 13 | 614932 | C3554129 | OMIM | 1 | | 526 | 23166 | 610316 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 163 | 9438 | 603424 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 163 | 9438 | 603424 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 163 | 9438 | 603424 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | PRRT2 CL E G H | 112476 | 98809 | Paroxysmal kinesigenic dyskinesia | | CN207123 | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | PRRT2 CL E G H | 112476 | 98809 | Paroxysmal kinesigenic dyskinesia | | CN207123 | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | PRRT2 CL E G H | 112476 | 98809 | Paroxysmal kinesigenic dyskinesia | | CN207123 | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 307 | 16499 | 300774 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 307 | 16499 | 300774 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 307 | 16499 | 300774 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 1914 | 10588 | 182390 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 1914 | 10588 | 182390 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 1914 | 10588 | 182390 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1494 | 10596 | 600702 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1494 | 10596 | 600702 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1494 | 10596 | 600702 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 229 | 24624 | 608005 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 229 | 24624 | 608005 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 229 | 24624 | 608005 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SLC2A1 CL E G H | 6513 | 612126 | GLUT1 deficiency syndrome 2 | 612126 | C1842534 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SLC2A1 CL E G H | 6513 | 612126 | GLUT1 deficiency syndrome 2 | 612126 | C1842534 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SLC2A1 CL E G H | 6513 | 612126 | GLUT1 deficiency syndrome 2 | 612126 | C1842534 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SLC30A9 CL E G H | 10463 | 617595 | Birk-Landau-Perez syndrome | 617595 | C4539828 | OMIM | 1 | | 30 | 1329 | 604604 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SLC30A9 CL E G H | 10463 | 617595 | Birk-Landau-Perez syndrome | 617595 | C4539828 | OMIM | 1 | | 30 | 1329 | 604604 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SLC30A9 CL E G H | 10463 | 617595 | Birk-Landau-Perez syndrome | 617595 | C4539828 | OMIM | 1 | | 30 | 1329 | 604604 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SLC46A1 CL E G H | 113235 | 229050 | Congenital defect of folate absorption | 229050 | C0342705 | OMIM | 1 | | 265 | 30521 | 611672 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SLC46A1 CL E G H | 113235 | 229050 | Congenital defect of folate absorption | 229050 | C0342705 | OMIM | 1 | | 265 | 30521 | 611672 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SLC46A1 CL E G H | 113235 | 229050 | Congenital defect of folate absorption | 229050 | C0342705 | OMIM | 1 | | 265 | 30521 | 611672 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | ST3GAL5 CL E G H | 8869 | 370938 | | | | ORPHA | 1 | | 309 | 10872 | 604402 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | ST3GAL5 CL E G H | 8869 | 370938 | | | | ORPHA | 1 | | 309 | 10872 | 604402 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | ST3GAL5 CL E G H | 8869 | 370938 | | | | ORPHA | 1 | | 309 | 10872 | 604402 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 50 | 11509 | 185605 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 50 | 11509 | 185605 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 50 | 11509 | 185605 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | TMEM43 CL E G H | 79188 | 604400 | Arrhythmogenic right ventricular cardiomyopathy, type 5 | 604400 | C1858379 | OMIM | 1 | | 740 | 28472 | 612048 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | TMEM43 CL E G H | 79188 | 604400 | Arrhythmogenic right ventricular cardiomyopathy, type 5 | 604400 | C1858379 | OMIM | 1 | | 740 | 28472 | 612048 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | TMEM43 CL E G H | 79188 | 604400 | Arrhythmogenic right ventricular cardiomyopathy, type 5 | 604400 | C1858379 | OMIM | 1 | | 740 | 28472 | 612048 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | XK CL E G H | 7504 | 300842 | McLeod neuroacanthocytosis syndrome | 300842 | C0398568 | OMIM | 1 | | 188 | 12811 | 314850 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | XK CL E G H | 7504 | 300842 | McLeod neuroacanthocytosis syndrome | 300842 | C0398568 | OMIM | 1 | | 188 | 12811 | 314850 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | XK CL E G H | 7504 | 300842 | McLeod neuroacanthocytosis syndrome | 300842 | C0398568 | OMIM | 1 | | 188 | 12811 | 314850 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 437 | 567 | 602166 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 71 | 29561 | 611647 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 123 | 851 | 607027 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | B4GALNT1 CL E G H | 2583 | 101006 | | | | ORPHA | 0 | | 192 | 4117 | 601873 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 2689 | 1388 | 601011 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 390 | 2092 | 118955 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 264 | 19701 | 300724 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 416 | 13760 | 606323 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | DDX3X CL E G H | 1654 | 300958 | Mental retardation, X-linked 102 | 300958 | C4085582 | OMIM | 0 | | 602 | 2745 | 300160 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 318 | 20603 | 608172 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 165 | 30343 | 614334 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 622 | 2972 | 602377 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 493 | 3192 | 602959 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 94 | 3296 | 600495 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 613 | 11529 | 185535 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 360 | 29170 | 613534 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 210 | 3668 | 601513 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 421 | 4082 | 600232 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 255 | 11960 | 612003 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 445 | 4392 | 139320 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 519 | 4588 | 602717 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 635 | 4845 | 602780 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 325 | 6220 | 176262 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 518 | 6231 | 600397 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 440 | 6407 | 190070 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2226 | 18618 | 609007 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 4826 | 7127 | 120436 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 1824 | 7128 | 604395 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 6374 | 7325 | 609309 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 7706 | 7329 | 600678 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 167 | 24539 | 611623 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 333 | 8032 | 600456 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 220 | 21042 | 610463 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 975 | 8975 | 171834 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 96 | 9121 | 600258 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 4346 | 9122 | 600259 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 426 | 9153 | 609023 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 233 | 9314 | 114105 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 702 | 30500 | 614386 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1096 | 10590 | 182391 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1494 | 10596 | 600702 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 568 | 23089 | 608305 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 236 | 10940 | 600300 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 177 | 11138 | 163890 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 185 | 11431 | 603666 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 871 | 11444 | 602926 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1086 | 11497 | 603384 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1046 | 11503 | 604297 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2342 | 29040 | 615463 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 842 | 11773 | 190182 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 106 | 29947 | 608112 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 157 | 23230 | 610552 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | UNC80 CL E G H | 285175 | 616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | C4225203 | OMIM | 0 | | 1166 | 26582 | 612636 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 184 | 13487 | 601501 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 967 | 12799 | 605131 |
HP:0100660 | HP:0100660 | Dyskinesia | 0 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 128 | 12852 | 605356 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 437 | 567 | 602166 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 437 | 567 | 602166 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 437 | 567 | 602166 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 71 | 29561 | 611647 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 71 | 29561 | 611647 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 71 | 29561 | 611647 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 123 | 851 | 607027 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 123 | 851 | 607027 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 123 | 851 | 607027 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | B4GALNT1 CL E G H | 2583 | 101006 | | | | ORPHA | 0 | | 192 | 4117 | 601873 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | B4GALNT1 CL E G H | 2583 | 101006 | | | | ORPHA | 0 | | 192 | 4117 | 601873 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | B4GALNT1 CL E G H | 2583 | 101006 | | | | ORPHA | 0 | | 192 | 4117 | 601873 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 2689 | 1388 | 601011 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 2689 | 1388 | 601011 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 2689 | 1388 | 601011 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 390 | 2092 | 118955 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 390 | 2092 | 118955 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 390 | 2092 | 118955 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 264 | 19701 | 300724 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 264 | 19701 | 300724 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 264 | 19701 | 300724 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 416 | 13760 | 606323 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 416 | 13760 | 606323 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 416 | 13760 | 606323 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | DDX3X CL E G H | 1654 | 300958 | Mental retardation, X-linked 102 | 300958 | C4085582 | OMIM | 0 | | 602 | 2745 | 300160 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | DDX3X CL E G H | 1654 | 300958 | Mental retardation, X-linked 102 | 300958 | C4085582 | OMIM | 0 | | 602 | 2745 | 300160 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | DDX3X CL E G H | 1654 | 300958 | Mental retardation, X-linked 102 | 300958 | C4085582 | OMIM | 0 | | 602 | 2745 | 300160 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 318 | 20603 | 608172 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 318 | 20603 | 608172 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 318 | 20603 | 608172 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 165 | 30343 | 614334 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 165 | 30343 | 614334 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 165 | 30343 | 614334 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 622 | 2972 | 602377 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 622 | 2972 | 602377 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 622 | 2972 | 602377 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 493 | 3192 | 602959 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 493 | 3192 | 602959 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 493 | 3192 | 602959 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 94 | 3296 | 600495 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 94 | 3296 | 600495 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 94 | 3296 | 600495 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 613 | 11529 | 185535 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 613 | 11529 | 185535 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 613 | 11529 | 185535 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 360 | 29170 | 613534 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 360 | 29170 | 613534 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 360 | 29170 | 613534 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 210 | 3668 | 601513 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 210 | 3668 | 601513 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 210 | 3668 | 601513 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 421 | 4082 | 600232 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 421 | 4082 | 600232 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 421 | 4082 | 600232 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 255 | 11960 | 612003 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 255 | 11960 | 612003 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 255 | 11960 | 612003 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 445 | 4392 | 139320 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 445 | 4392 | 139320 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 445 | 4392 | 139320 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 519 | 4588 | 602717 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 519 | 4588 | 602717 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 519 | 4588 | 602717 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 635 | 4845 | 602780 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 635 | 4845 | 602780 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 635 | 4845 | 602780 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 325 | 6220 | 176262 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 325 | 6220 | 176262 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 325 | 6220 | 176262 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 518 | 6231 | 600397 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 518 | 6231 | 600397 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 518 | 6231 | 600397 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 440 | 6407 | 190070 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 440 | 6407 | 190070 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 440 | 6407 | 190070 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2226 | 18618 | 609007 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2226 | 18618 | 609007 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2226 | 18618 | 609007 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 4826 | 7127 | 120436 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 4826 | 7127 | 120436 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 4826 | 7127 | 120436 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 1824 | 7128 | 604395 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 1824 | 7128 | 604395 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 1824 | 7128 | 604395 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 6374 | 7325 | 609309 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 6374 | 7325 | 609309 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 6374 | 7325 | 609309 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 7706 | 7329 | 600678 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 7706 | 7329 | 600678 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 7706 | 7329 | 600678 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 167 | 24539 | 611623 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 167 | 24539 | 611623 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 167 | 24539 | 611623 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 333 | 8032 | 600456 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 333 | 8032 | 600456 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 333 | 8032 | 600456 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 220 | 21042 | 610463 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 220 | 21042 | 610463 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 220 | 21042 | 610463 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 975 | 8975 | 171834 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 975 | 8975 | 171834 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 975 | 8975 | 171834 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 96 | 9121 | 600258 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 96 | 9121 | 600258 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 96 | 9121 | 600258 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 4346 | 9122 | 600259 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 4346 | 9122 | 600259 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 4346 | 9122 | 600259 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 426 | 9153 | 609023 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 426 | 9153 | 609023 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 426 | 9153 | 609023 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 233 | 9314 | 114105 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 233 | 9314 | 114105 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 233 | 9314 | 114105 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 702 | 30500 | 614386 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 702 | 30500 | 614386 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 702 | 30500 | 614386 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1096 | 10590 | 182391 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1096 | 10590 | 182391 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1096 | 10590 | 182391 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1494 | 10596 | 600702 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1494 | 10596 | 600702 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1494 | 10596 | 600702 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 568 | 23089 | 608305 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 568 | 23089 | 608305 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 568 | 23089 | 608305 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 236 | 10940 | 600300 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 236 | 10940 | 600300 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 236 | 10940 | 600300 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 177 | 11138 | 163890 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 177 | 11138 | 163890 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 177 | 11138 | 163890 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 185 | 11431 | 603666 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 185 | 11431 | 603666 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 185 | 11431 | 603666 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 871 | 11444 | 602926 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 871 | 11444 | 602926 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 871 | 11444 | 602926 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1086 | 11497 | 603384 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1086 | 11497 | 603384 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1086 | 11497 | 603384 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1046 | 11503 | 604297 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1046 | 11503 | 604297 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1046 | 11503 | 604297 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2342 | 29040 | 615463 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2342 | 29040 | 615463 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2342 | 29040 | 615463 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 842 | 11773 | 190182 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 842 | 11773 | 190182 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 842 | 11773 | 190182 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 106 | 29947 | 608112 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 106 | 29947 | 608112 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 106 | 29947 | 608112 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 157 | 23230 | 610552 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 157 | 23230 | 610552 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 157 | 23230 | 610552 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | UNC80 CL E G H | 285175 | 616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | C4225203 | OMIM | 0 | | 1166 | 26582 | 612636 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | UNC80 CL E G H | 285175 | 616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | C4225203 | OMIM | 0 | | 1166 | 26582 | 612636 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | UNC80 CL E G H | 285175 | 616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | C4225203 | OMIM | 0 | | 1166 | 26582 | 612636 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 184 | 13487 | 601501 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 184 | 13487 | 601501 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 184 | 13487 | 601501 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 967 | 12799 | 605131 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 967 | 12799 | 605131 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 967 | 12799 | 605131 |
HP:0100660 | HP:0002310 | Orofacial dyskinesia | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 128 | 12852 | 605356 |
HP:0100660 | HP:0007308 | Extrapyramidal dyskinesia | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 128 | 12852 | 605356 |
HP:0100660 | HP:0040141 | Tardive dyskinesia | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 128 | 12852 | 605356 |