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:0007000 | HP:0007000 | Morning myoclonic jerks | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:607682 | Epilepsy, idiopathic generalized, susceptibility to, 9 | . | | | 146 | | |
HP:0007000 | HP:0007000 | Morning myoclonic jerks | 0 | CACNB4 CL E G H | 785 | 1404 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040281 - Very frequent | | | 146 | | |
HP:0007000 | HP:0007000 | Morning myoclonic jerks | 0 | CILK1 CL E G H | 22858 | 21219 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040281 - Very frequent | | | | | |
HP:0007000 | HP:0007000 | Morning myoclonic jerks | 0 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040281 - Very frequent | | | 44 | | |
HP:0007000 | HP:0007000 | Morning myoclonic jerks | 0 | CSTB CL E G H | 1476 | 2482 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | HP:0040281 - Very frequent | | | 51 | | |
HP:0007000 | HP:0007000 | Morning myoclonic jerks | 0 | EFHC1 CL E G H | 114327 | 16406 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040281 - Very frequent | | | 153 | | |
HP:0007000 | HP:0007000 | Morning myoclonic jerks | 0 | EFHC1 CL E G H | 114327 | 16406 | OMIM:254770 | Myoclonic epilepsy, juvenile, susceptibility to, 1 | . | | | 153 | | |
HP:0007000 | HP:0007000 | Morning myoclonic jerks | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040281 - Very frequent | | | 134 | | |
HP:0007000 | HP:0007000 | Morning myoclonic jerks | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040281 - Very frequent | | | 10 | | |
HP:0007000 | HP:0007000 | Morning myoclonic jerks | 0 | JRK CL E G H | 8629 | 6199 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040281 - Very frequent | | | | | |
HP:0007000 | HP:0007000 | Morning myoclonic jerks | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040281 - Very frequent | | | 302 | | |
HP:0007000 | HP:0007000 | Morning myoclonic jerks | 0 | PRICKLE1 CL E G H | 144165 | 17019 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | HP:0040281 - Very frequent | | | 133 | | |
HP:0007000 | HP:0007000 | Morning myoclonic jerks | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | HP:0040281 - Very frequent | | | 77 | | |