Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040282 - Frequent | | | 88 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040282 - Frequent | | | | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | HP:0040283 - Occasional | | | 78 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | CACNB4 CL E G H | 785 | 1404 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | 146 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | CHD2 CL E G H | 1106 | 1917 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040282 - Frequent | | | 227 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | CILK1 CL E G H | 22858 | 21219 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | 44 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | COQ5 CL E G H | 84274 | 28722 | OMIM:619028 | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9 | | | | | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | COX8A CL E G H | 1351 | 2294 | OMIM:619059 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15 | | | | 1 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040282 - Frequent | | | 1 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | EFHC1 CL E G H | 114327 | 16406 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | 153 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | EXOC8 CL E G H | 149371 | 24659 | OMIM:619076 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB | | | | 1 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | | | | 134 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | 134 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | GABRA5 CL E G H | 2558 | 4079 | OMIM:618559 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79 | | | | | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | 10 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | | | | 139 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040283 - Occasional | | | | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040282 - Frequent | | | 434 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | JRK CL E G H | 8629 | 6199 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | 302 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619091 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG | | | | | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040282 - Frequent | | | 52 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | | | | 225 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | PCYT2 CL E G H | 5833 | 8756 | OMIM:618770 | SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82 | | | | | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040282 - Frequent | | | 948 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | HP:0040283 - Occasional | | | 53 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | | | | 1053 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040282 - Frequent | | | 1053 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | | | | 126 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | | | | 427 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | | | | 318 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 66 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040282 - Frequent | | | 255 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | SLC6A1 CL E G H | 6529 | 11042 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040282 - Frequent | | | 29 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040282 - Frequent | | | 108 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040282 - Frequent | | | 271 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | TMX2 CL E G H | 51075 | 30739 | OMIM:618730 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS | | | | 2 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 3 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 84 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 57 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 102 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 278 | | |
HP:0025190 | HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0025190 | HP:0032661 | Generalized convulsive status epilepticus | 1 | CL E G H | | | | | | | | | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | CACNB4 CL E G H | 785 | 1404 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | 146 | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | CILK1 CL E G H | 22858 | 21219 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | 44 | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | EFHC1 CL E G H | 114327 | 16406 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | 153 | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | 134 | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | 10 | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 139 | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | JRK CL E G H | 8629 | 6199 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | 302 | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 225 | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 1053 | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 126 | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 427 | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 318 | | |
HP:0025190 | HP:0007207 | Photosensitive tonic-clonic seizure | 1 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | . | | | 93 | | |