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:0033717 | HP:0033717 | EEG with temporal epileptiform discharges | 0 | ARHGEF9 CL E G H | 23229 | 14561 | ORPHA:163985 | Hyperekplexia-epilepsy syndrome | | | | 45 | | |
HP:0033717 | HP:0033717 | EEG with temporal epileptiform discharges | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0033717 | HP:0033717 | EEG with temporal epileptiform discharges | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | | | | 434 | | |
HP:0033717 | HP:0012013 | EEG with temporal focal spike waves | 1 | CL E G H | | | | | | | | | | |
HP:0033717 | HP:0011296 | EEG with temporal sharp waves | 1 | CL E G H | | | | | | | | | | |
HP:0033717 | HP:0012018 | EEG with temporal focal spikes | 1 | ARHGEF9 CL E G H | 23229 | 14561 | ORPHA:163985 | Hyperekplexia-epilepsy syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0033717 | HP:0012018 | EEG with temporal focal spikes | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0033717 | HP:0011289 | EEG with temporal sharp slow waves | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0033717 | HP:0012018 | EEG with temporal focal spikes | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040282 - Frequent | | | 434 | | |