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:0002266 | HP:0002266 | Focal clonic seizure | 0 | ADAM22 CL E G H | 53616 | 201 | OMIM:617933 | Epileptic encephalopathy, early infantile, 61 | | | | | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:618663 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81 | | | | 3 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | FRRS1L CL E G H | 23732 | 1362 | ORPHA:725 | Continuous spikes and waves during sleep | HP:0040283 - Occasional | | | 4 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | | | | 4 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617904 | Epileptic encephalopathy, early infantile, 59 | | | | 5 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | | | | 134 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | GABRA1 CL E G H | 2554 | 4075 | OMIM:615744 | Epileptic encephalopathy, early infantile, 19 | | | | 134 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | | | | 139 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | | | | 139 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | | | | 6 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:725 | Continuous spikes and waves during sleep | HP:0040283 - Occasional | | | 434 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | | | | 434 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040282 - Frequent | | | 528 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040282 - Frequent | | | 528 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | KCNQ2 CL E G H | 3785 | 6296 | OMIM:121200 | Seizures, benign familial neonatal, 1 | . | | | 528 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040282 - Frequent | | | 302 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040282 - Frequent | | | 302 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | KCNQ3 CL E G H | 3786 | 6297 | OMIM:121201 | Epilepsy, benign neonatal, 2 | . | | | 302 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | LGI1 CL E G H | 9211 | 6572 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 75 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | MICAL1 CL E G H | 64780 | 20619 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | | | | 225 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | PEX3 CL E G H | 8504 | 8858 | OMIM:617370 | Peroxisome biogenesis disorder 10B | | | | 47 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040282 - Frequent | | | 94 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | RELN CL E G H | 5649 | 9957 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 334 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:619317 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B | | | | 1053 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | | | | 1053 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:607208 | Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) | | | | 1053 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:604403 | Generalized epilepsy with febrile seizures plus, type 2 | | | | 1053 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | | | | 126 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:617350 | Epileptic encephalopathy, early infantile, 52 | | | | 126 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040282 - Frequent | | | 427 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | | | | 427 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040282 - Frequent | | | 357 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614558 | Epileptic encephalopathy, early infantile, 13 | | | | 357 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | | | | 318 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SLC12A5 CL E G H | 57468 | 13818 | OMIM:616645 | Epileptic encephalopathy, early infantile, 34 | | | | 8 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | | | | 50 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:608105 | Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp | | | | 271 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:163727 | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | | | | 271 | | |
HP:0002266 | HP:0002266 | Focal clonic seizure | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:620028 | | | | | 2 | | |
HP:0002266 | HP:0032725 | Focal impaired awareness clonic seizure | 1 | CL E G H | | | | | | | | | | |
HP:0002266 | HP:0032711 | Focal aware clonic seizure | 1 | CL E G H | | | | | | | | | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | FRRS1L CL E G H | 23732 | 1362 | ORPHA:725 | Continuous spikes and waves during sleep | HP:0040282 - Frequent | | | 4 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | | | | 4 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | GABRA1 CL E G H | 2554 | 4075 | OMIM:615744 | Epileptic encephalopathy, early infantile, 19 | . | | | 134 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 139 | | |
HP:0002266 | HP:0007332 | Focal hemifacial clonic seizure | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | HP:0040282 - Frequent | | | 139 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:725 | Continuous spikes and waves during sleep | HP:0040282 - Frequent | | | 434 | | |
HP:0002266 | HP:0007332 | Focal hemifacial clonic seizure | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | HP:0040282 - Frequent | | | 434 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 225 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | SCN1A CL E G H | 6323 | 10585 | OMIM:619317 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B | | | | 1053 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 1053 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | SCN1A CL E G H | 6323 | 10585 | OMIM:607208 | Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) | . | | | 1053 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | SCN1A CL E G H | 6323 | 10585 | OMIM:604403 | Generalized epilepsy with febrile seizures plus, type 2 | . | | | 1053 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 126 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | SCN1B CL E G H | 6324 | 10586 | OMIM:617350 | Epileptic encephalopathy, early infantile, 52 | . | | | 126 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 427 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | SCN8A CL E G H | 6334 | 10596 | OMIM:614558 | Epileptic encephalopathy, early infantile, 13 | | | | 357 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 318 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | SLC12A5 CL E G H | 57468 | 13818 | OMIM:616645 | Epileptic encephalopathy, early infantile, 34 | | | | 8 | | |
HP:0002266 | HP:0006813 | Focal hemiclonic seizure | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0002266 | HP:0007332 | Focal hemifacial clonic seizure | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | HP:0040282 - Frequent | | | 50 | | |
HP:0002266 | HP:0007332 | Focal hemifacial clonic seizure | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:608105 | Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp | . | | | 271 | | |
HP:0002266 | HP:0007332 | Focal hemifacial clonic seizure | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:163727 | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0002266 | HP:0032847 | Focal impaired awareness hemifacial clonic seizure | 2 | CL E G H | | | | | | | | | | |
HP:0002266 | HP:0032799 | Focal impaired awareness hemiclonic seizure | 2 | CL E G H | | | | | | | | | | |
HP:0002266 | HP:0032757 | Focal aware hemiclonic seizure | 2 | CL E G H | | | | | | | | | | |
HP:0002266 | HP:0032854 | Focal aware hemifacial clonic seizure | 2 | CL E G H | | | | | | | | | | |