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:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | HP:0040283 - Occasional | | | 30 | | |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | KCNC3 CL E G H | 3748 | 6235 | OMIM:605259 | Spinocerebellar ataxia 13 | . | | | 17 | | |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040283 - Occasional | | | 17 | | |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | HP:0040283 - Occasional | | | 126 | | |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:615386 | Spinocerebellar ataxia, autosomal recessive 14 | HP:0040283 - Occasional | | | 126 | | |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | TTBK2 CL E G H | 146057 | 19141 | ORPHA:98767 | Spinocerebellar ataxia type 11 | HP:0040281 - Very frequent | | | 57 | | |