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:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 1 | | 277 | 18986 | 609471 |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 216 | 6235 | 176264 |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | TTBK2 CL E G H | 146057 | 98767 | | | | ORPHA | 1 | | 234 | 19141 | 611695 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | GBA2 CL E G H | 57704 | 320391 | | | | ORPHA | 0 | | 277 | 18986 | 609471 |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 216 | 6235 | 176264 |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 164 | 9449 | 176640 |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | SPTBN2 CL E G H | 6712 | 352403 | | | | ORPHA | 0 | | 716 | 11276 | 604985 |
HP:0008003 | HP:0008003 | Jerky ocular pursuit movements | 0 | SPTBN2 CL E G H | 6712 | 615386 | Spinocerebellar ataxia, autosomal recessive 14 | 615386 | C3809327 | OMIM | 0 | | 716 | 11276 | 604985 |