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:0007944 | HP:0007944 | Intermittent microsaccadic pursuits | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | . | | | 35 | | |
HP:0007944 | HP:0007944 | Intermittent microsaccadic pursuits | 0 | TMEM240 CL E G H | 339453 | 25186 | ORPHA:98773 | Spinocerebellar ataxia type 21 | HP:0040281 - Very frequent | | | 9 | | |