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:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | | | | 135 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040282 - Frequent | | | 19 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040282 - Frequent | | | 114 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | EPM2A CL E G H | 7957 | 3413 | ORPHA:501 | Lafora disease | | | | 83 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | GJC2 CL E G H | 57165 | 17494 | ORPHA:320401 | Autosomal recessive spastic paraplegia type 44 | HP:0040281 - Very frequent | | | 37 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040282 - Frequent | | | 44 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | MARCHF6 CL E G H | 10299 | 30550 | OMIM:613608 | Epilepsy, familial adult myoclonic, 3 | | | | | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | NHLRC1 CL E G H | 378884 | 21576 | ORPHA:501 | Lafora disease | | | | 77 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280219 | Pelizaeus-Merzbacher disease, classic form | HP:0040282 - Frequent | | | 60 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | HP:0040281 - Very frequent | | | 49 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | SAMD12 CL E G H | 401474 | 31750 | OMIM:601068 | Epilepsy, familial adult myoclonic, 1 | | | | 2 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | SEMA6B CL E G H | 10501 | 10739 | OMIM:618876 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 | | | | | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | | | | | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:608105 | Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp | | | | 271 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:163727 | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | | | | 271 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | TTPA CL E G H | 7274 | 12404 | OMIM:277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | | | | 62 | | |
HP:0007377 | HP:0007377 | Abnormality of somatosensory evoked potentials | 0 | YEATS2 CL E G H | 55689 | 25489 | OMIM:615127 | Epilepsy, familial adult myoclonic, 4 | | | | 1 | | |
HP:0007377 | HP:0100291 | Abnormality of central somatosensory evoked potentials | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040282 - Frequent | | | 135 | | |
HP:0007377 | HP:0100291 | Abnormality of central somatosensory evoked potentials | 1 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0007377 | HP:0001312 | Giant somatosensory evoked potentials | 1 | EPM2A CL E G H | 7957 | 3413 | ORPHA:501 | Lafora disease | HP:0040282 - Frequent | | | 83 | | |
HP:0007377 | HP:0001312 | Giant somatosensory evoked potentials | 1 | MARCHF6 CL E G H | 10299 | 30550 | OMIM:613608 | Epilepsy, familial adult myoclonic, 3 | . | | | | | |
HP:0007377 | HP:0001340 | Enhancement of the C-reflex | 1 | MARCHF6 CL E G H | 10299 | 30550 | OMIM:613608 | Epilepsy, familial adult myoclonic, 3 | . | | | | | |
HP:0007377 | HP:0100290 | Abnormality of peripheral somatosensory evoked potentials | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040281 - Very frequent | | | 8 | | |
HP:0007377 | HP:0001312 | Giant somatosensory evoked potentials | 1 | NHLRC1 CL E G H | 378884 | 21576 | ORPHA:501 | Lafora disease | HP:0040282 - Frequent | | | 77 | | |
HP:0007377 | HP:0001312 | Giant somatosensory evoked potentials | 1 | SAMD12 CL E G H | 401474 | 31750 | OMIM:601068 | Epilepsy, familial adult myoclonic, 1 | | | | 2 | | |
HP:0007377 | HP:0001340 | Enhancement of the C-reflex | 1 | SAMD12 CL E G H | 401474 | 31750 | OMIM:601068 | Epilepsy, familial adult myoclonic, 1 | | | | 2 | | |
HP:0007377 | HP:0001312 | Giant somatosensory evoked potentials | 1 | SEMA6B CL E G H | 10501 | 10739 | OMIM:618876 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 | | | | | | |
HP:0007377 | HP:0001312 | Giant somatosensory evoked potentials | 1 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | . | | | | | |
HP:0007377 | HP:0001340 | Enhancement of the C-reflex | 1 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | . | | | | | |
HP:0007377 | HP:0007104 | Prolonged somatosensory evoked potentials | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:608105 | Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp | . | | | 271 | | |
HP:0007377 | HP:0007104 | Prolonged somatosensory evoked potentials | 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:0007377 | HP:0100291 | Abnormality of central somatosensory evoked potentials | 1 | TTPA CL E G H | 7274 | 12404 | OMIM:277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | | | | 62 | | |
HP:0007377 | HP:0001340 | Enhancement of the C-reflex | 1 | YEATS2 CL E G H | 55689 | 25489 | OMIM:615127 | Epilepsy, familial adult myoclonic, 4 | . | | | 1 | | |