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:0007738 | HP:0007738 | Uncontrolled eye movements | 0 | ADORA2A CL E G H | 135 | 263 | ORPHA:363549 | Acute encephalopathy with biphasic seizures and late reduced diffusion | HP:0040283 - Occasional | | | 1 | | |
HP:0007738 | HP:0007738 | Uncontrolled eye movements | 0 | CACNA1H CL E G H | 8912 | 1395 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 75 | | |
HP:0007738 | HP:0007738 | Uncontrolled eye movements | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 134 | | |
HP:0007738 | HP:0007738 | Uncontrolled eye movements | 0 | GABRB3 CL E G H | 2562 | 4083 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 57 | | |
HP:0007738 | HP:0007738 | Uncontrolled eye movements | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 139 | | |
HP:0007738 | HP:0007738 | Uncontrolled eye movements | 0 | JRK CL E G H | 8629 | 6199 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | | | |
HP:0007738 | HP:0007738 | Uncontrolled eye movements | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0007738 | HP:0007738 | Uncontrolled eye movements | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 255 | | |