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:0000641 | HP:0000641 | Dysmetric saccades | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | . | | | 86 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 64 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | . | | | 19 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ATXN8 CL E G H | 724066 | 32925 | OMIM:608768 | Spinocerebellar ataxia 8 | . | | | 1 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:608768 | Spinocerebellar ataxia 8 | . | | | 1 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | . | | | 4 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | EEF2 CL E G H | 1938 | 3214 | ORPHA:101112 | Spinocerebellar ataxia type 26 | HP:0040282 - Frequent | | | 4 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040283 - Occasional | | | 532 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | . | | | 75 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | HP:0040283 - Occasional | | | 126 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | TGM6 CL E G H | 343641 | 16255 | ORPHA:276193 | Spinocerebellar ataxia type 35 | HP:0040283 - Occasional | | | 58 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | HP:0040282 - Frequent | | | 203 | | |
HP:0000641 | HP:0000641 | Dysmetric saccades | 0 | UBAP1 CL E G H | 51271 | 12461 | OMIM:618418 | Spastic paraplegia 80, autosomal dominant | HP:0040284 - Very rare | | | | | |
HP:0000641 | HP:0032015 | Dysmetric horizontal saccades | 1 | CL E G H | | | | | | | | | | |
HP:0000641 | HP:0032014 | Dysmetric vertical saccades | 1 | CL E G H | | | | | | | | | | |