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:0006934 | HP:0006934 | Congenital nystagmus | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 116 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | CNGB3 CL E G H | 54714 | 2153 | OMIM:262300 | Achromatopsia 3 | | | | 194 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | FRMD7 CL E G H | 90167 | 8079 | OMIM:310700 | Nystagmus 1, congenital, X-linked | . | | | 38 | | |
HP:0006934 | HP:0006934 | Congenital 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:0006934 | HP:0006934 | Congenital nystagmus | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | HPS3 CL E G H | 84343 | 15597 | OMIM:614072 | Hermansky-Pudlak syndrome 3 | | | | 67 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 110 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 173 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | | | | 125 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | HP:0040283 - Occasional | | | 125 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 7 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:2334 | Autosomal dominant keratitis | HP:0040283 - Occasional | | | 194 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:136520 | Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included | . | | | 194 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 271 | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0006934 | HP:0006934 | Congenital nystagmus | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | . | | | 66 | | |
HP:0006934 | 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:0006934 | HP:0007811 | Horizontal pendular nystagmus | 1 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0006934 | HP:0007811 | Horizontal pendular nystagmus | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | | | |
HP:0006934 | HP:0007811 | Horizontal pendular nystagmus | 1 | CNGB3 CL E G H | 54714 | 2153 | OMIM:262300 | Achromatopsia 3 | . | | | 194 | | |
HP:0006934 | 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:0006934 | HP:0007811 | Horizontal pendular nystagmus | 1 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | . | | | 125 | | |
HP:0006934 | 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:0006934 | HP:0007811 | Horizontal pendular nystagmus | 1 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |