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:0007817 | HP:0007817 | Horizontal supranuclear gaze palsy | 0 | DCC CL E G H | 1630 | 2701 | OMIM:617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 | | | | 36 | | |
HP:0007817 | HP:0007817 | Horizontal supranuclear gaze palsy | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:2744 | Horizontal gaze palsy with progressive scoliosis | HP:0040281 - Very frequent | | | 36 | | |
HP:0007817 | HP:0007817 | Horizontal supranuclear gaze palsy | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | . | | | | | |
HP:0007817 | HP:0007817 | Horizontal supranuclear gaze palsy | 0 | HOXA1 CL E G H | 3198 | 5099 | OMIM:601536 | ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS | | | | 34 | | |
HP:0007817 | HP:0007817 | Horizontal supranuclear gaze palsy | 0 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | . | | | 90 | | |
HP:0007817 | HP:0007817 | Horizontal supranuclear gaze palsy | 0 | ROBO3 CL E G H | 64221 | 13433 | ORPHA:2744 | Horizontal gaze palsy with progressive scoliosis | HP:0040281 - Very frequent | | | 90 | | |