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:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | | | | 86 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:101109 | Spinocerebellar ataxia type 28 | | | | 86 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | | | | 114 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | | | | 64 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ANO10 CL E G H | 55129 | 25519 | OMIM:613728 | Spinocerebellar ataxia, autosomal recessive 10 | | | | 64 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 239 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 150 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | | | | 19 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | | | | 19 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | | | | 11 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | | | | 11 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ATXN7 CL E G H | 6314 | 10560 | OMIM:164500 | Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II | | | | 8 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ATXN8 CL E G H | 724066 | 32925 | OMIM:608768 | Spinocerebellar ataxia 8 | | | | 1 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:608768 | Spinocerebellar ataxia 8 | | | | 1 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040283 - Occasional | | | 114 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 449 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 102 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | COQ5 CL E G H | 84274 | 28722 | OMIM:619028 | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9 | | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | | | | 60 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | | | | 6 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | | | | 4 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | EEF2 CL E G H | 1938 | 3214 | ORPHA:101112 | Spinocerebellar ataxia type 26 | | | | 4 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ELOVL5 CL E G H | 60481 | 21308 | OMIM:615957 | Spinocerebellar ataxia 38 | | | | 4 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ELOVL5 CL E G H | 60481 | 21308 | ORPHA:423296 | Spinocerebellar ataxia type 38 | | | | 4 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | | | | 36 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 36 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | FRMD5 CL E G H | 84978 | 28214 | OMIM:620094 | | | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040282 - Frequent | | | 18 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040284 - Very rare | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | HP:0040282 - Frequent | | | 30 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | | | | 37 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | GRM1 CL E G H | 2911 | 4593 | ORPHA:324262 | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | | | | 8 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:617691 | SPINOCEREBELLAR ATAXIA 44; SCA44 | | | | 8 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | | | | 177 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:208513 | Spinocerebellar ataxia type 29 | HP:0040282 - Frequent | | | 177 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619724 | DYSTONIA 34, MYOCLONIC; DYT34 | | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:101010 | Autosomal spastic paraplegia type 30 | HP:0040282 - Frequent | | | 276 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | | | | 202 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240085 | Progressive supranuclear palsy-parkinsonism syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | . | | | 140 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | | | | 6 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | | | | 18 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | | | | 532 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | | | | 532 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 31 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | | | | 2 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | | | | 2 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | | | | 9 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | | | | 85 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | PDYN CL E G H | 5173 | 8820 | OMIM:610245 | Spinocerebellar ataxia 23 | | | | 52 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | PDYN CL E G H | 5173 | 8820 | ORPHA:101108 | Spinocerebellar ataxia type 23 | | | | 52 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | | | | 82 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | | | | 11 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | | | | 133 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | | | | 2 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:459033 | Ataxia-oculomotor apraxia type 4 | HP:0040283 - Occasional | | | 244 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 40 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SCP2 CL E G H | 6342 | 10606 | OMIM:613724 | Leukoencephalopathy with dystonia and motor neuropathy | . | | | 4 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 63 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | | | | 63 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | | | | 13 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 65 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 2 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | HP:0040283 - Occasional | | | 24 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | | | | 126 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:615386 | Spinocerebellar ataxia, autosomal recessive 14 | | | | 126 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040283 - Occasional | | | 1129 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 82 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | | | | 58 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | TGM6 CL E G H | 343641 | 16255 | ORPHA:276193 | Spinocerebellar ataxia type 35 | | | | 58 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 44 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | | | | 203 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | | | | 203 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | UBAP1 CL E G H | 51271 | 12461 | OMIM:618418 | Spastic paraplegia 80, autosomal dominant | | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:251282 | Autosomal dominant spastic ataxia type 1 | | | | 2 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | VAMP1 CL E G H | 6843 | 12642 | OMIM:108600 | Spastic ataxia 1, autosomal dominant | | | | 2 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | VPS13D CL E G H | 55187 | 23595 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040282 - Frequent | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | VPS41 CL E G H | 27072 | 12713 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040282 - Frequent | | | | | |
HP:0000570 | HP:0000570 | Abnormal saccadic eye movements | 0 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | | | | 4 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | . | | | 86 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | . | | | 86 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:101109 | Spinocerebellar ataxia type 28 | HP:0040282 - Frequent | | | 86 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | . | | | 1 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | . | | | 114 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 64 | | |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | ANO10 CL E G H | 55129 | 25519 | OMIM:613728 | Spinocerebellar ataxia, autosomal recessive 10 | . | | | 64 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | . | | | 61 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 239 | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 150 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | . | | | 19 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | . | | | 19 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | . | | | 19 | | |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040283 - Occasional | | | 19 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040282 - Frequent | | | 19 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | HP:0040282 - Frequent | | | 11 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ATXN7 CL E G H | 6314 | 10560 | OMIM:164500 | Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II | . | | | 8 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ATXN8 CL E G H | 724066 | 32925 | OMIM:608768 | Spinocerebellar ataxia 8 | . | | | 1 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | ATXN8 CL E G H | 724066 | 32925 | OMIM:608768 | Spinocerebellar ataxia 8 | . | | | 1 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:608768 | Spinocerebellar ataxia 8 | . | | | 1 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:608768 | Spinocerebellar ataxia 8 | . | | | 1 | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 449 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040283 - Occasional | | | 32 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | . | | | | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 102 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | COQ5 CL E G H | 84274 | 28722 | OMIM:619028 | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9 | | | | | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | COQ5 CL E G H | 84274 | 28722 | OMIM:619028 | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9 | | | | | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | HP:0040283 - Occasional | | | 6 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | . | | | 4 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | EEF2 CL E G H | 1938 | 3214 | ORPHA:101112 | Spinocerebellar ataxia type 26 | HP:0040282 - Frequent | | | 4 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ELOVL5 CL E G H | 60481 | 21308 | OMIM:615957 | Spinocerebellar ataxia 38 | . | | | 4 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | ELOVL5 CL E G H | 60481 | 21308 | ORPHA:423296 | Spinocerebellar ataxia type 38 | HP:0040282 - Frequent | | | 4 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | . | | | 36 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | FRMD5 CL E G H | 84978 | 28214 | OMIM:620094 | | | | | | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | | | | | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | | | | | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | | | | | | |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | . | | | | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | . | | | 37 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | GRM1 CL E G H | 2911 | 4593 | ORPHA:324262 | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | HP:0040282 - Frequent | | | 8 | | |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | GRM1 CL E G H | 2911 | 4593 | OMIM:617691 | SPINOCEREBELLAR ATAXIA 44; SCA44 | | | | 8 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619724 | DYSTONIA 34, MYOCLONIC; DYT34 | | | | | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | | | | 202 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | HP:0040284 - Very rare | | | 140 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | | | | 6 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | HP:0040282 - Frequent | | | 18 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040283 - Occasional | | | 532 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040282 - Frequent | | | 532 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | . | | | 532 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | . | | | | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | HP:0040281 - Very frequent | | | 2 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | . | | | 2 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040282 - Frequent | | | 9 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | . | | | 85 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | PDYN CL E G H | 5173 | 8820 | OMIM:610245 | Spinocerebellar ataxia 23 | . | | | 52 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | PDYN CL E G H | 5173 | 8820 | ORPHA:101108 | Spinocerebellar ataxia type 23 | HP:0040282 - Frequent | | | 52 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | . | | | 75 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | . | | | 82 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | . | | | 11 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | . | | | 2 | | |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | 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:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 63 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | HP:0040283 - Occasional | | | 63 | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | | | | 13 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 2 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | HP:0040283 - Occasional | | | 126 | | |
HP:0000570 | HP:0000571 | Hypometric saccades | 1 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:615386 | Spinocerebellar ataxia, autosomal recessive 14 | HP:0040283 - Occasional | | | 126 | | |
HP:0000570 | HP:0032114 | Saccadic intrusion | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | | | | 1129 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 82 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | | | | 58 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | TGM6 CL E G H | 343641 | 16255 | ORPHA:276193 | Spinocerebellar ataxia type 35 | HP:0040283 - Occasional | | | 58 | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | . | | | 9 | | |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 44 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | HP:0040282 - Frequent | | | 203 | | |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | . | | | 203 | | |
HP:0000570 | HP:0000641 | Dysmetric saccades | 1 | UBAP1 CL E G H | 51271 | 12461 | OMIM:618418 | Spastic paraplegia 80, autosomal dominant | HP:0040284 - Very rare | | | | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:251282 | Autosomal dominant spastic ataxia type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | VAMP1 CL E G H | 6843 | 12642 | OMIM:108600 | Spastic ataxia 1, autosomal dominant | . | | | 2 | | |
HP:0000570 | HP:0032114 | Saccadic intrusion | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0000570 | HP:0000514 | Slow saccadic eye movements | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | VPS13D CL E G H | 55187 | 23595 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040282 - Frequent | | | | | |
HP:0000570 | HP:0032104 | Saccadic oscillation | 1 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | | | | | | |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | . | | | | | |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | VPS41 CL E G H | 27072 | 12713 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040282 - Frequent | | | | | |
HP:0000570 | HP:0007338 | Hypermetric saccades | 1 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | . | | | 4 | | |
HP:0000570 | HP:0032013 | Hypermetric horizontal saccades | 2 | CL E G H | | | | | | | | | | |
HP:0000570 | HP:0031832 | Hypermetric downward saccades | 2 | CL E G H | | | | | | | | | | |
HP:0000570 | HP:0032116 | Macrosquare-wave jerks | 2 | CL E G H | | | | | | | | | | |
HP:0000570 | HP:0032015 | Dysmetric horizontal saccades | 2 | CL E G H | | | | | | | | | | |
HP:0000570 | HP:0032014 | Dysmetric vertical saccades | 2 | CL E G H | | | | | | | | | | |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 239 | | |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 150 | | |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 449 | | |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | FRMD5 CL E G H | 84978 | 28214 | OMIM:620094 | | | | | | | |
HP:0000570 | HP:0007885 | Slowed horizontal saccades | 2 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | . | | | | | |
HP:0000570 | HP:0007975 | Hypometric horizontal saccades | 2 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | . | | | | | |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040284 - Very rare | | | | | |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0000570 | HP:0007885 | Slowed horizontal saccades | 2 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000570 | HP:0031833 | Hypometric upward saccades | 2 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 63 | | |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | . | | | 27 | | |
HP:0000570 | HP:0031931 | Ocular flutter | 2 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | . | | | 13 | | |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000570 | HP:0025402 | Square-wave jerks | 2 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040283 - Occasional | | | 1129 | | |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0000570 | HP:0010543 | Opsoclonus | 2 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 44 | | |
HP:0000570 | HP:0025402 | Square-wave jerks | 2 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |
HP:0000570 | HP:0032105 | Macrosaccadic oscillations | 2 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | . | | | | | |