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:0012043 | HP:0012043 | Pendular nystagmus | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 116 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:604393 | Leber congenital amaurosis 4 | . | | | 114 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 10 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | . | | | 4 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 239 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 449 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | | | | 6 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 82 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | CNGA3 CL E G H | 1261 | 2150 | OMIM:216900 | Achromatopsia 2 | | | | 82 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 194 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | CNGB3 CL E G H | 54714 | 2153 | OMIM:262300 | Achromatopsia 3 | | | | 194 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | CRX CL E G H | 1406 | 2383 | OMIM:613829 | Leber congenital amaurosis 7 | . | | | 158 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | | | | 82 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | DNMBP CL E G H | 23268 | 30373 | OMIM:618415 | Cataract 48 | . | | | | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | FRMD7 CL E G H | 90167 | 8079 | OMIM:310700 | Nystagmus 1, congenital, X-linked | . | | | 38 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | GFAP CL E G H | 2670 | 4235 | OMIM:203450 | Alexander disease | | | | 188 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 19 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | HMGB3 CL E G H | 3149 | 5004 | OMIM:300915 | Microphthalmia, syndromic 13 | . | | | 2 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | | | | 125 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | NT5C2 CL E G H | 22978 | 8022 | ORPHA:320396 | Autosomal recessive spastic paraplegia type 45 | HP:0040282 - Frequent | | | 15 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 7 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | NUP62 CL E G H | 23636 | 8066 | OMIM:271930 | Striatonigral degeneration, infantile | . | | | 7 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | OPN1LW CL E G H | 5956 | 9936 | OMIM:303700 | Blue cone monochromacy | . | | | 7 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | OPN1MW CL E G H | 2652 | 4206 | OMIM:303700 | Blue cone monochromacy | . | | | 5 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | OPN1SW CL E G H | 611 | 1012 | ORPHA:88629 | Tritanopia | HP:0040283 - Occasional | | | 3 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | | | | | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 80 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 14 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040283 - Occasional | | | 133 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280210 | Pelizaeus-Merzbacher disease, connatal form | HP:0040282 - Frequent | | | 60 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 94 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 200 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:613826 | Leber congenital amaurosis 6 | . | | | 109 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:619317 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B | | | | 1053 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 1053 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:619167 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 | | | | 129 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | . | | | 22 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | TENM3 CL E G H | 55714 | 29944 | OMIM:615145 | Microphthalmia, isolated, with coloboma 9 | . | | | 12 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | | | | 33 | | |
HP:0012043 | HP:0012043 | Pendular nystagmus | 0 | TMEM63A CL E G H | 9725 | 29118 | OMIM:618688 | LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19 | | | | | | |
HP:0012043 | 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:0012043 | HP:0007811 | Horizontal pendular nystagmus | 1 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0012043 | HP:0012044 | Seesaw nystagmus | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 239 | | |
HP:0012043 | HP:0007811 | Horizontal pendular nystagmus | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | | | |
HP:0012043 | HP:0012044 | Seesaw nystagmus | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 449 | | |
HP:0012043 | HP:0012044 | Seesaw nystagmus | 1 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040283 - Occasional | | | 6 | | |
HP:0012043 | HP:0007811 | Horizontal pendular nystagmus | 1 | CNGB3 CL E G H | 54714 | 2153 | OMIM:262300 | Achromatopsia 3 | . | | | 194 | | |
HP:0012043 | HP:0007811 | Horizontal pendular nystagmus | 1 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | . | | | 125 | | |
HP:0012043 | 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:0012043 | HP:0012044 | Seesaw nystagmus | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 94 | | |
HP:0012043 | HP:0010533 | Spasmus nutans | 1 | SCN1A CL E G H | 6323 | 10585 | OMIM:619317 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B | | | | 1053 | | |
HP:0012043 | HP:0012044 | Seesaw nystagmus | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 1053 | | |
HP:0012043 | HP:0007811 | Horizontal pendular nystagmus | 1 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0012043 | HP:0012044 | Seesaw nystagmus | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040283 - Occasional | | | 33 | | |