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:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | | | | 114 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | | | | 64 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ATN1 CL E G H | 1822 | 3033 | ORPHA:101 | Dentatorubral pallidoluysian atrophy | | | | 16 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | | | | 19 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | | | | 9 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | | | | 9 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | | | | 11 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ATXN8 CL E G H | 724066 | 32925 | OMIM:608768 | Spinocerebellar ataxia 8 | | | | 1 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:608768 | Spinocerebellar ataxia 8 | | | | 1 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:108500 | Episodic ataxia, type 2 | | | | 449 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:183086 | Spinocerebellar ataxia 6 | | | | 449 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | | | | 60 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | | | | 26 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | | | | 4 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | EEF2 CL E G H | 1938 | 3214 | ORPHA:101112 | Spinocerebellar ataxia type 26 | | | | 4 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | | | | 62 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | | | | 47 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | | | | 33 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | | | | 30 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | | | | 30 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | | | | 107 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | GNB1 CL E G H | 2782 | 4396 | ORPHA:488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | | | | 12 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | | | | 177 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | KCNC3 CL E G H | 3748 | 6235 | OMIM:605259 | Spinocerebellar ataxia 13 | | | | 17 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | | | | 17 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | | | | 35 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | | | | 35 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619724 | DYSTONIA 34, MYOCLONIC; DYT34 | | | | | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | | | | 136 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040283 - Occasional | | | 532 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | | | | 532 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | | | | 231 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | | | | 37 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | | | | 75 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 11 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | | | | 133 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | PMPCA CL E G H | 23203 | 18667 | OMIM:213200 | Spinocerebellar ataxia, autosomal recessive 2 | | | | 7 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | | | | 67 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | PRKCG CL E G H | 5582 | 9402 | ORPHA:98763 | Spinocerebellar ataxia type 14 | | | | 83 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | | | | 69 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | | | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | | | | | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | RUBCN CL E G H | 9711 | 28991 | ORPHA:404499 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency | | | | 9 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | RUBCN CL E G H | 9711 | 28991 | OMIM:615705 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 | | | | 9 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 162 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | | | | 287 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | | | | 126 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | | | | 126 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:615386 | Spinocerebellar ataxia, autosomal recessive 14 | | | | 126 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | STT3A CL E G H | 3703 | 6172 | ORPHA:370921 | STT3A-CDG | | | | 21 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | | 14 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | | | | 237 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | | | | 1129 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | SYT14 CL E G H | 255928 | 23143 | ORPHA:284271 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | SYT14 CL E G H | 255928 | 23143 | OMIM:614229 | Spinocerebellar ataxia, autosomal recessive 11 | | | | 4 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | | 16 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | | | | 7 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | TMEM240 CL E G H | 339453 | 25186 | ORPHA:98773 | Spinocerebellar ataxia type 21 | | | | 9 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | | | | 203 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | | | | 203 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | | | | 102 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | TTBK2 CL E G H | 146057 | 19141 | ORPHA:98767 | Spinocerebellar ataxia type 11 | | | | 57 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | | | | 66 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | | | | 2 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | | | | 4 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0000617 | HP:0000617 | Abnormality of ocular smooth pursuit | 0 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | | | | 189 | | |
HP:0000617 | HP:0008003 | Jerky ocular pursuit movements | 1 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | . | | | 114 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 64 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | ATN1 CL E G H | 1822 | 3033 | ORPHA:101 | Dentatorubral pallidoluysian atrophy | HP:0040282 - Frequent | | | 16 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | HP:0040282 - Frequent | | | 19 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | | | | 9 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | HP:0040282 - Frequent | | | 9 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | | | | 11 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | ATXN8 CL E G H | 724066 | 32925 | OMIM:608768 | Spinocerebellar ataxia 8 | . | | | 1 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:608768 | Spinocerebellar ataxia 8 | . | | | 1 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | CACNA1A CL E G H | 773 | 1388 | OMIM:108500 | Episodic ataxia, type 2 | . | | | 449 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | CACNA1A CL E G H | 773 | 1388 | OMIM:183086 | Spinocerebellar ataxia 6 | . | | | 449 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040282 - Frequent | | | 32 | | |
HP:0000617 | HP:0007668 | Impaired pursuit initiation and maintenance | 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:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | | | | 26 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | | | | 4 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | EEF2 CL E G H | 1938 | 3214 | ORPHA:101112 | Spinocerebellar ataxia type 26 | | | | 4 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | . | | | 62 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | . | | | 47 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040283 - Occasional | | | 33 | | |
HP:0000617 | HP:0008003 | Jerky ocular pursuit movements | 1 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | HP:0040283 - Occasional | | | 30 | | |
HP:0000617 | HP:0008003 | Jerky ocular pursuit movements | 1 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | HP:0040282 - Frequent | | | 107 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | GNB1 CL E G H | 2782 | 4396 | ORPHA:488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | . | | | 12 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0000617 | HP:0008003 | Jerky ocular pursuit movements | 1 | KCNC3 CL E G H | 3748 | 6235 | OMIM:605259 | Spinocerebellar ataxia 13 | . | | | 17 | | |
HP:0000617 | HP:0008003 | Jerky ocular pursuit movements | 1 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040283 - Occasional | | | 17 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | | | | 35 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | HP:0040283 - Occasional | | | 35 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619724 | DYSTONIA 34, MYOCLONIC; DYT34 | | | | | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | HP:0003581 - Adult onset | | 136 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | . | | | 532 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | . | | | 9 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | HP:0040282 - Frequent | | | 231 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | HP:0040283 - Occasional | | | 37 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | . | | | 75 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040282 - Frequent | | | 11 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | . | | | 133 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | PMPCA CL E G H | 23203 | 18667 | OMIM:213200 | Spinocerebellar ataxia, autosomal recessive 2 | . | | | 7 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | | | | 67 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | PRKCG CL E G H | 5582 | 9402 | ORPHA:98763 | Spinocerebellar ataxia type 14 | HP:0040283 - Occasional | | | 83 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0000617 | HP:0008003 | Jerky ocular pursuit movements | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | | | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | | | | | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | RUBCN CL E G H | 9711 | 28991 | ORPHA:404499 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | RUBCN CL E G H | 9711 | 28991 | OMIM:615705 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 | | | | 9 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | . | | | 309 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 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:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040282 - Frequent | | | 162 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | . | | | 162 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040282 - Frequent | | | 287 | | |
HP:0000617 | HP:0008003 | Jerky ocular pursuit movements | 1 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | HP:0040283 - Occasional | | | 126 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | . | | | 126 | | |
HP:0000617 | HP:0008003 | Jerky ocular pursuit movements | 1 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:615386 | Spinocerebellar ataxia, autosomal recessive 14 | HP:0040283 - Occasional | | | 126 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | STT3A CL E G H | 3703 | 6172 | ORPHA:370921 | STT3A-CDG | HP:0040282 - Frequent | | | 21 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040284 - Very rare | | | 14 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | | | | 237 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040283 - Occasional | | | 1129 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | SYT14 CL E G H | 255928 | 23143 | OMIM:614229 | Spinocerebellar ataxia, autosomal recessive 11 | . | | | 4 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | | 16 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0000617 | HP:0007668 | Impaired pursuit initiation and maintenance | 1 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | TMEM240 CL E G H | 339453 | 25186 | ORPHA:98773 | Spinocerebellar ataxia type 21 | | | | 9 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | HP:0040282 - Frequent | | | 203 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | . | | | 203 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | . | | | 102 | | |
HP:0000617 | HP:0008003 | Jerky ocular pursuit movements | 1 | TTBK2 CL E G H | 146057 | 19141 | ORPHA:98767 | Spinocerebellar ataxia type 11 | HP:0040281 - Very frequent | | | 57 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | . | | | 66 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | | | | 4 | | |
HP:0000617 | HP:0007772 | Impaired smooth pursuit | 1 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0000617 | HP:0001152 | Saccadic smooth pursuit | 1 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | HP:0040283 - Occasional | | | 189 | | |
HP:0000617 | HP:0001151 | Impaired horizontal smooth pursuit | 2 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | . | | | 19 | | |
HP:0000617 | HP:0001151 | Impaired horizontal smooth pursuit | 2 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0000617 | HP:0001151 | Impaired horizontal smooth pursuit | 2 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0000617 | HP:0007179 | Absent smooth pursuit | 2 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | HP:0040282 - Frequent | | | 26 | | |
HP:0000617 | HP:0001151 | Impaired horizontal smooth pursuit | 2 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | . | | | 4 | | |
HP:0000617 | HP:0001151 | Impaired horizontal smooth pursuit | 2 | EEF2 CL E G H | 1938 | 3214 | ORPHA:101112 | Spinocerebellar ataxia type 26 | HP:0040281 - Very frequent | | | 4 | | |
HP:0000617 | HP:0007179 | Absent smooth pursuit | 2 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | . | | | 47 | | |
HP:0000617 | HP:0007944 | Intermittent microsaccadic pursuits | 2 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | . | | | 35 | | |
HP:0000617 | HP:0001151 | Impaired horizontal smooth pursuit | 2 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | . | | | 67 | | |
HP:0000617 | HP:0007179 | Absent smooth pursuit | 2 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000617 | HP:0001151 | Impaired horizontal smooth pursuit | 2 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | . | | | | | |
HP:0000617 | HP:0001151 | Impaired horizontal smooth pursuit | 2 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | . | | | 237 | | |
HP:0000617 | HP:0007179 | Absent smooth pursuit | 2 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000617 | HP:0007179 | Absent smooth pursuit | 2 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0000617 | HP:0007792 | Microsaccadic pursuit | 2 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | . | | | 9 | | |
HP:0000617 | HP:0007944 | Intermittent microsaccadic pursuits | 2 | TMEM240 CL E G H | 339453 | 25186 | ORPHA:98773 | Spinocerebellar ataxia type 21 | HP:0040281 - Very frequent | | | 9 | | |