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:0045084 | HP:0045084 | Limb myoclonus | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040283 - Occasional | | | 135 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | HP:0040283 - Occasional | | | 78 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | CACNA1H CL E G H | 8912 | 1395 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 75 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 405 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040283 - Occasional | | | 1 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | DRD2 CL E G H | 1813 | 3023 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 134 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | GABRB3 CL E G H | 2562 | 4083 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 57 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 139 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | JRK CL E G H | 8629 | 6199 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040283 - Occasional | | | 528 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040282 - Frequent | | | 528 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040283 - Occasional | | | 302 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040282 - Frequent | | | 302 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | KCTD17 CL E G H | 79734 | 25705 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | KCTD7 CL E G H | 154881 | 21957 | ORPHA:263516 | Progressive myoclonic epilepsy type 3 | HP:0040283 - Occasional | | | 106 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040284 - Very rare | | | 9 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:356 | Gerstmann-Straussler-Scheinker syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040283 - Occasional | | | 94 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040283 - Occasional | | | 427 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040283 - Occasional | | | 357 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:618364 | MYOCLONUS, FAMILIAL, 2; MYOCL2 | | | | 357 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | SGCE CL E G H | 8910 | 10808 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040281 - Very frequent | | | 49 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 255 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040283 - Occasional | | | 271 | | |
HP:0045084 | HP:0045084 | Limb myoclonus | 0 | TOR1A CL E G H | 1861 | 3098 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040281 - Very frequent | | | 47 | | |