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:0000666 | HP:0000666 | Horizontal nystagmus | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 116 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 89 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | . | | | 96 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | | | | 132 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040283 - Occasional | | | 64 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | ATG5 CL E G H | 9474 | 589 | OMIM:617584 | Spinocerebellar ataxia, autosomal recessive 25 | | | | 1 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040282 - Frequent | | | 100 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 239 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | BEAN1 CL E G H | 146227 | 24160 | OMIM:117210 | Spinocerebellar ataxia 31 | | | | 1 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | . | | | 42 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 449 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | | | | 449 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | CNGB3 CL E G H | 54714 | 2153 | OMIM:262300 | Achromatopsia 3 | | | | 194 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | COQ5 CL E G H | 84274 | 28722 | OMIM:619028 | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9 | | | | | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | DAB1 CL E G H | 1600 | 2661 | ORPHA:363710 | Spinocerebellar ataxia type 37 | HP:0040282 - Frequent | | | 4 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | . | | | 94 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | DPP6 CL E G H | 1804 | 3010 | ORPHA:2514 | Autosomal dominant primary microcephaly | HP:0040283 - Occasional | | | 18 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | HP:0040283 - Occasional | | | 18 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 7 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | FRMD7 CL E G H | 90167 | 8079 | OMIM:310700 | Nystagmus 1, congenital, X-linked | . | | | 38 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | GATA3 CL E G H | 2625 | 4172 | OMIM:146255 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | | | | 83 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | . | | | | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 86 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | | | | 24 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | GPR143 CL E G H | 4935 | 20145 | OMIM:300814 | Nystagmus 6, congenital, X-linked | . | | | 64 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | GRID2 CL E G H | 2895 | 4576 | ORPHA:363432 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | HP:0040282 - Frequent | | | 18 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | GRID2 CL E G H | 2895 | 4576 | OMIM:616204 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 | | | | 18 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | GRM1 CL E G H | 2911 | 4593 | ORPHA:324262 | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | | | | 8 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | HARS1 CL E G H | 3035 | 4816 | OMIM:614504 | Usher syndrome, type IIIB | . | | | | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | HPS3 CL E G H | 84343 | 15597 | OMIM:614072 | Hermansky-Pudlak syndrome 3 | | | | 67 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | HPS4 CL E G H | 89781 | 15844 | OMIM:614073 | Hermansky-Pudlak syndrome 4 | . | | | 123 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | . | | | 105 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 1 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:397933 | Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | | | | 177 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | | | | 35 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | KCNV2 CL E G H | 169522 | 19698 | OMIM:610356 | Retinal cone dystrophy 3B | . | | | 73 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | HP:0040282 - Frequent | | | 38 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | KIF1C CL E G H | 10749 | 6317 | OMIM:611302 | Spastic ataxia 2, autosomal recessive | . | | | 38 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:2514 | Autosomal dominant primary microcephaly | HP:0040283 - Occasional | | | 44 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | | | | 125 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | . | | | | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | MARS2 CL E G H | 92935 | 25133 | ORPHA:314603 | Autosomal recessive spastic ataxia with leukoencephalopathy | HP:0040282 - Frequent | | | 25 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:611390 | Spastic ataxia 3, autosomal recessive | . | | | 25 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | MRPL12 CL E G H | 6182 | 10378 | OMIM:618951 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45 | | | | 11 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 27 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | | | | 84 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 7 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:165500 | Optic atrophy 1 | | | | 214 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | . | | | 214 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:615007 | Basal ganglia calcification, idiopathic, 4 | | | | 28 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | | | | 59 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | HP:0040283 - Occasional | | | 60 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | . | | | 67 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 94 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 1053 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:212550 | Optic disc anomalies with retinal and/or macular dystrophy | . | | | 20 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | . | | | 3 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | | | | 24 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | HP:0040283 - Occasional | | | 126 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | | | | 3 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:616684 | Charcot-Marie-Tooth disease, type 4K | | | | 73 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | SYT14 CL E G H | 255928 | 23143 | ORPHA:284271 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome | | | | 4 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | TAF2 CL E G H | 6873 | 11536 | ORPHA:397951 | Microcephaly-thin corpus callosum-intellectual disability syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:608105 | Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp | . | | | 271 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:163727 | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | TMEM126A CL E G H | 84233 | 25382 | OMIM:612989 | Optic atrophy 7 with or without auditory neuropathy | HP:0040283 - Occasional | | | 23 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | HP:0040282 - Frequent | | | 203 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | | | | | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | TTBK2 CL E G H | 146057 | 19141 | ORPHA:98767 | Spinocerebellar ataxia type 11 | HP:0040281 - Very frequent | | | 57 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | UROC1 CL E G H | 131669 | 26444 | ORPHA:210128 | Urocanic aciduria | | | | 8 | | |
HP:0000666 | HP:0000666 | Horizontal nystagmus | 0 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | | | | 4 | | |
HP:0000666 | HP:0007747 | Monocular horizontal nystagmus | 1 | CL E G H | | | | | | | | | | |
HP:0000666 | HP:0007286 | Horizontal jerk nystagmus | 1 | CL E G H | | | | | | | | | | |
HP:0000666 | HP:0008026 | Horizontal opticokinetic nystagmus | 1 | CL E G H | | | | | | | | | | |
HP:0000666 | HP:0007811 | Horizontal pendular nystagmus | 1 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 116 | | |
HP:0000666 | HP:0007811 | Horizontal pendular nystagmus | 1 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 239 | | |
HP:0000666 | HP:0007811 | Horizontal pendular nystagmus | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | BEAN1 CL E G H | 146227 | 24160 | OMIM:117210 | Spinocerebellar ataxia 31 | HP:0040282 - Frequent | | | 1 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 449 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | HP:0040281 - Very frequent | | | 449 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040282 - Frequent | | | 32 | | |
HP:0000666 | HP:0007811 | Horizontal pendular nystagmus | 1 | CNGB3 CL E G H | 54714 | 2153 | OMIM:262300 | Achromatopsia 3 | . | | | 194 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0000666 | HP:0007859 | Congenital horizontal nystagmus | 1 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | GRM1 CL E G H | 2911 | 4593 | ORPHA:324262 | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | HP:0040283 - Occasional | | | 8 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | . | | | 35 | | |
HP:0000666 | HP:0007811 | Horizontal pendular nystagmus | 1 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | . | | | 125 | | |
HP:0000666 | HP:0007811 | Horizontal pendular nystagmus | 1 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 7 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 94 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040282 - Frequent | | | 309 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 1053 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | HP:0040283 - Occasional | | | 24 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | SYT14 CL E G H | 255928 | 23143 | ORPHA:284271 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0000666 | HP:0007811 | Horizontal pendular nystagmus | 1 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0000666 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | UROC1 CL E G H | 131669 | 26444 | ORPHA:210128 | Urocanic aciduria | HP:0040281 - Very frequent | | | 8 | | |