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:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 239 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 150 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 449 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 5 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 59 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 18 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 47 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 72 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 60 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 5 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 4 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 44 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 139 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | HP:0040282 - Frequent | | | 434 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 8 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 14 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 70 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 357 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 9 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 123 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 149 | | |
HP:0010844 | HP:0010844 | EEG with multifocal slow activity | 0 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |