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:0000641 | HP:0000641 | Dysmetric saccades | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 240 | 25519 | 613726 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 79 | 10561 | 603680 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | EEF2 CL E G H | 1938 | 101112 | | | | ORPHA | 1 | | 204 | 3214 | 130610 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 204 | 3214 | 130610 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 1 | | 208 | 3671 | 601515 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 654 | 8851 | 602859 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 73 | 14372 | 607982 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 849 | 2073 | 607998 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 240 | 25519 | 613726 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 240 | 25519 | 613726 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 79 | 10561 | 603680 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 79 | 10561 | 603680 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | EEF2 CL E G H | 1938 | 101112 | | | | ORPHA | 1 | | 204 | 3214 | 130610 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | EEF2 CL E G H | 1938 | 101112 | | | | ORPHA | 1 | | 204 | 3214 | 130610 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 204 | 3214 | 130610 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 204 | 3214 | 130610 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 1 | | 208 | 3671 | 601515 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 1 | | 208 | 3671 | 601515 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 654 | 8851 | 602859 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 654 | 8851 | 602859 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 73 | 14372 | 607982 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 73 | 14372 | 607982 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 849 | 2073 | 607998 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 849 | 2073 | 607998 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1729 | 7230 | 600814 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | SPTBN2 CL E G H | 6712 | 352403 | | | | ORPHA | 0 | | 716 | 11276 | 604985 |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | TGM6 CL E G H | 343641 | 276193 | | | | ORPHA | 0 | | 289 | 16255 | 613900 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1729 | 7230 | 600814 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1729 | 7230 | 600814 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | SPTBN2 CL E G H | 6712 | 352403 | | | | ORPHA | 0 | | 716 | 11276 | 604985 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | SPTBN2 CL E G H | 6712 | 352403 | | | | ORPHA | 0 | | 716 | 11276 | 604985 |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | TGM6 CL E G H | 343641 | 276193 | | | | ORPHA | 0 | | 289 | 16255 | 613900 |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | TGM6 CL E G H | 343641 | 276193 | | | | ORPHA | 0 | | 289 | 16255 | 613900 |