Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | EEF2 CL E G H | 1938 | 101112 | | | | ORPHA | 1 | | 204 | 3214 | 130610 |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 204 | 3214 | 130610 |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | POLR3B CL E G H | 55703 | 614381 | Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism | 614381 | C3280644 | OMIM | 1 | | 368 | 30348 | 614366 |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | STXBP1 CL E G H | 6812 | 612164 | Early infantile epileptic encephalopathy 4 | 612164 | C2677326 | OMIM | 1 | | 871 | 11444 | 602926 |
HPO disease - gene - phenotype less frequent non-typical associations: |