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:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | . | | | 86 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 239 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | . | | | 19 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | HP:0040282 - Frequent | | | 9 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | HP:0040282 - Frequent | | | 14 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | HP:0040282 - Frequent | | | 14 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040282 - Frequent | | | 14 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | BEAN1 CL E G H | 146227 | 24160 | OMIM:117210 | Spinocerebellar ataxia 31 | | | | 1 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:108500 | Episodic ataxia, type 2 | . | | | 449 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 449 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:183086 | Spinocerebellar ataxia 6 | . | | | 449 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | | | | 449 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | CACNB4 CL E G H | 785 | 1404 | ORPHA:211067 | Episodic ataxia type 5 | HP:0040282 - Frequent | | | 146 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:613855 | Episodic ataxia, type 5 | . | | | 146 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040283 - Occasional | | | 54 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | . | | | 47 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | HP:0040281 - Very frequent | | | 47 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0000640 | HP:0000640 | Gaze-evoked 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:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | GRM1 CL E G H | 2911 | 4593 | ORPHA:324262 | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | | | | 8 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | | | | 177 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | | | | 35 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040283 - Occasional | | | 532 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | . | | | 532 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040282 - Frequent | | | 11 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | PMPCA CL E G H | 23203 | 18667 | ORPHA:1170 | Autosomal recessive cerebelloparenchymal disorder type 3 | HP:0040281 - Very frequent | | | 7 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | PRKCG CL E G H | 5582 | 9402 | ORPHA:98763 | Spinocerebellar ataxia type 14 | HP:0040283 - Occasional | | | 83 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 94 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | . | | | | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:619806 | SPINOCEREBELLAR ATAXIA 49; SCA49 | | | | 4 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 1053 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614306 | Cognitive impairment with or without cerebellar ataxia | HP:0040283 - Occasional | | | 357 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040282 - Frequent | | | 162 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | . | | | 162 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:209967 | Episodic ataxia type 6 | HP:0040283 - Occasional | | | 63 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | | | | 24 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | . | | | 126 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | SYT14 CL E G H | 255928 | 23143 | ORPHA:284271 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome | | | | 4 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | HP:0040282 - Frequent | | | 52 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | UBAP1 CL E G H | 51271 | 12461 | OMIM:618418 | Spastic paraplegia 80, autosomal dominant | HP:0040284 - Very rare | | | | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | UROC1 CL E G H | 131669 | 26444 | ORPHA:210128 | Urocanic aciduria | | | | 8 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | VLDLR CL E G H | 7436 | 12698 | OMIM:224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | . | | | 111 | | |
HP:0000640 | HP:0000640 | Gaze-evoked nystagmus | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:614322 | Spinocerebellar ataxia, autosomal recessive 12 | . | | | 149 | | |
HP:0000640 | 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:0000640 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | BEAN1 CL E G H | 146227 | 24160 | OMIM:117210 | Spinocerebellar ataxia 31 | HP:0040282 - Frequent | | | 1 | | |
HP:0000640 | 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:0000640 | 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:0000640 | 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:0000640 | 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:0000640 | 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:0000640 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0000640 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0000640 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | . | | | 35 | | |
HP:0000640 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0000640 | 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:0000640 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0000640 | 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:0000640 | 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:0000640 | 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:0000640 | 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:0000640 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0000640 | HP:0007979 | Gaze-evoked horizontal nystagmus | 1 | UROC1 CL E G H | 131669 | 26444 | ORPHA:210128 | Urocanic aciduria | HP:0040281 - Very frequent | | | 8 | | |