Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | | | | 15 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | ACOX2 CL E G H | 8309 | 120 | OMIM:617308 | Bile acid synthesis defect, congenital, 6 | | | | 2 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | ADD3 CL E G H | 120 | 245 | OMIM:617008 | Cerebral palsy, spastic quadriplegic, 3 | . | | | 3 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | | | | 74 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 114 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | | | | 100 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040282 - Frequent | | | 100 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | | | | 19 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | HP:0040283 - Occasional | | | 56 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 56 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | CCDC88C CL E G H | 440193 | 19967 | ORPHA:423275 | Spinocerebellar ataxia type 40 | | | | 54 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 11 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | DCC CL E G H | 1630 | 2701 | OMIM:617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 | | | | 36 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:2744 | Horizontal gaze palsy with progressive scoliosis | | | | 36 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | | | | 82 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:619687 | DYSTONIA 33; DYT33 | | | | | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | . | | | 62 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | | | | 33 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 105 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 105 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | | | | | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040284 - Very rare | | | | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | HOXA1 CL E G H | 3198 | 5099 | OMIM:601536 | ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS | | | | 34 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | | | | 17 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | | | | 140 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240085 | Progressive supranuclear palsy-parkinsonism syndrome | | | | 140 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | | | | 140 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | MTFMT CL E G H | 123263 | 29666 | OMIM:618248 | Mitochondrial complex I deficiency, nuclear type 27 | | | | 29 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | | | | 9 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:614262 | Arthrogryposis, perthes disease, and upward gaze palsy | | | | 9 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | | | | 258 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | | | | 33 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | | | | 12 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040283 - Occasional | | | 133 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | | | | 133 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 464 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | | | | 138 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | 69 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | | | | 90 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | ROBO3 CL E G H | 64221 | 13433 | ORPHA:2744 | Horizontal gaze palsy with progressive scoliosis | | | | 90 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 6 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 287 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | HP:0040282 - Frequent | | | 171 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 54 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 62 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | | | | 62 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | . | | | 9 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 65 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 20 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 113 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:251282 | Autosomal dominant spastic ataxia type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | VAMP1 CL E G H | 6843 | 12642 | OMIM:108600 | Spastic ataxia 1, autosomal dominant | . | | | 2 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 63 | | |
HP:0000605 | HP:0000605 | Supranuclear gaze palsy | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | | | | 15 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | ACOX2 CL E G H | 8309 | 120 | OMIM:617308 | Bile acid synthesis defect, congenital, 6 | . | | | 2 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040283 - Occasional | | | 74 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | | | | 100 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | | | | 19 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | CCDC88C CL E G H | 440193 | 19967 | ORPHA:423275 | Spinocerebellar ataxia type 40 | HP:0040282 - Frequent | | | 54 | | |
HP:0000605 | HP:0007817 | Horizontal supranuclear gaze palsy | 1 | DCC CL E G H | 1630 | 2701 | OMIM:617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 | | | | 36 | | |
HP:0000605 | HP:0007817 | Horizontal supranuclear gaze palsy | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:2744 | Horizontal gaze palsy with progressive scoliosis | HP:0040281 - Very frequent | | | 36 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | . | | | 86 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | | | | 82 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:619687 | DYSTONIA 33; DYT33 | | | | | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | | | | 33 | | |
HP:0000605 | HP:0007817 | Horizontal supranuclear gaze palsy | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | . | | | | | |
HP:0000605 | HP:0007817 | Horizontal supranuclear gaze palsy | 1 | HOXA1 CL E G H | 3198 | 5099 | OMIM:601536 | ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS | | | | 34 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | | | | 17 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240085 | Progressive supranuclear palsy-parkinsonism syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | MTFMT CL E G H | 123263 | 29666 | OMIM:618248 | Mitochondrial complex I deficiency, nuclear type 27 | | | | 29 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | | | | 9 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:614262 | Arthrogryposis, perthes disease, and upward gaze palsy | | | | 9 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | . | | | 258 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | . | | | 33 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | | | | 12 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | | | | 133 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 464 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0000605 | HP:0007817 | Horizontal supranuclear gaze palsy | 1 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | . | | | 90 | | |
HP:0000605 | HP:0007817 | Horizontal supranuclear gaze palsy | 1 | ROBO3 CL E G H | 64221 | 13433 | ORPHA:2744 | Horizontal gaze palsy with progressive scoliosis | HP:0040281 - Very frequent | | | 90 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | . | | | 62 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 113 | | |
HP:0000605 | HP:0000511 | Vertical supranuclear gaze palsy | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0000605 | HP:0025331 | Upgaze palsy | 2 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0000605 | HP:0025331 | Upgaze palsy | 2 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0000605 | HP:0025331 | Upgaze palsy | 2 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | HP:0040282 - Frequent | | | 100 | | |
HP:0000605 | HP:0025331 | Upgaze palsy | 2 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040282 - Frequent | | | 19 | | |
HP:0000605 | HP:0025331 | Upgaze palsy | 2 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0000605 | HP:0025331 | Upgaze palsy | 2 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040284 - Very rare | | | 33 | | |
HP:0000605 | HP:0025331 | Upgaze palsy | 2 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040284 - Very rare | | | 17 | | |
HP:0000605 | HP:0025331 | Upgaze palsy | 2 | NEK9 CL E G H | 91754 | 18591 | OMIM:614262 | Arthrogryposis, perthes disease, and upward gaze palsy | | | | 9 | | |
HP:0000605 | HP:0025330 | Downgaze palsy | 2 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000605 | HP:0025331 | Upgaze palsy | 2 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040284 - Very rare | | | 133 | | |
HP:0000605 | HP:0025331 | Upgaze palsy | 2 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0000605 | HP:0025331 | Upgaze palsy | 2 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0000605 | HP:0025331 | Upgaze palsy | 2 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |