Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0006961 | HP:0006961 | Jerky head movements | 0 | CACNA1H CL E G H | 8912 | 1395 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 75 | | |
HP:0006961 | HP:0006961 | Jerky head movements | 0 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | . | | | 82 | | |
HP:0006961 | HP:0006961 | Jerky head movements | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 134 | | |
HP:0006961 | HP:0006961 | Jerky head movements | 0 | GABRB3 CL E G H | 2562 | 4083 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 57 | | |
HP:0006961 | HP:0006961 | Jerky head movements | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 139 | | |
HP:0006961 | HP:0006961 | Jerky head movements | 0 | JRK CL E G H | 8629 | 6199 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | | | |
HP:0006961 | HP:0006961 | Jerky head movements | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0006961 | HP:0006961 | Jerky head movements | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0006961 | HP:0006961 | Jerky head movements | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0006961 | HP:0006961 | Jerky head movements | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 255 | | |
HP:0006961 | HP:0006961 | Jerky head movements | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:251282 | Autosomal dominant spastic ataxia type 1 | HP:0040282 - Frequent | | | 2 | | |