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:0011170 | HP:0011170 | Generalized myoclonic-atonic seizure | 0 | AP2M1 CL E G H | 1173 | 564 | OMIM:618587 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60 | | | | | | |
HP:0011170 | HP:0011170 | Generalized myoclonic-atonic seizure | 0 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040281 - Very frequent | | | | | |
HP:0011170 | HP:0011170 | Generalized myoclonic-atonic seizure | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0011170 | HP:0011170 | Generalized myoclonic-atonic seizure | 0 | CHD2 CL E G H | 1106 | 1917 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040281 - Very frequent | | | 227 | | |
HP:0011170 | HP:0011170 | Generalized myoclonic-atonic seizure | 0 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0011170 | HP:0011170 | Generalized myoclonic-atonic seizure | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040281 - Very frequent | | | 52 | | |
HP:0011170 | HP:0011170 | Generalized myoclonic-atonic seizure | 0 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0011170 | HP:0011170 | Generalized myoclonic-atonic seizure | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040281 - Very frequent | | | 1053 | | |
HP:0011170 | HP:0011170 | Generalized myoclonic-atonic seizure | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040281 - Very frequent | | | 255 | | |
HP:0011170 | HP:0011170 | Generalized myoclonic-atonic seizure | 0 | SLC6A1 CL E G H | 6529 | 11042 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040281 - Very frequent | | | 29 | | |
HP:0011170 | HP:0011170 | Generalized myoclonic-atonic seizure | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040281 - Very frequent | | | 108 | | |