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:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | . | | | 19 | | |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | . | | | 4 | | |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | EEF2 CL E G H | 1938 | 3214 | ORPHA:101112 | Spinocerebellar ataxia type 26 | HP:0040281 - Very frequent | | | 4 | | |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | . | | | 67 | | |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | . | | | | | |
HP:0001151 | HP:0001151 | Impaired horizontal smooth pursuit | 0 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | . | | | 237 | | |