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:0025331 | HP:0025331 | Upgaze palsy | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0025331 | HP:0025331 | Upgaze palsy | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0025331 | HP:0025331 | Upgaze palsy | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | HP:0040282 - Frequent | | | 100 | | |
HP:0025331 | HP:0025331 | Upgaze palsy | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040282 - Frequent | | | 19 | | |
HP:0025331 | HP:0025331 | Upgaze palsy | 0 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0025331 | HP:0025331 | Upgaze palsy | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040284 - Very rare | | | 33 | | |
HP:0025331 | HP:0025331 | Upgaze palsy | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040284 - Very rare | | | 17 | | |
HP:0025331 | HP:0025331 | Upgaze palsy | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:614262 | Arthrogryposis, perthes disease, and upward gaze palsy | | | | 9 | | |
HP:0025331 | HP:0025331 | Upgaze palsy | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040284 - Very rare | | | 133 | | |
HP:0025331 | HP:0025331 | Upgaze palsy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0025331 | HP:0025331 | Upgaze palsy | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0025331 | HP:0025331 | Upgaze palsy | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |