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:0002172 | HP:0002172 | Postural instability | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 415 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 89 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:125370 | Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia | | | | 16 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | HP:0040282 - Frequent | | | 100 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | . | | | 100 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 239 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | | | | 150 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | . | | | 150 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 150 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040281 - Very frequent | | | 114 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 449 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | HP:0040281 - Very frequent | | | 449 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:607682 | Epilepsy, idiopathic generalized, susceptibility to, 9 | | | | 146 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | CACNB4 CL E G H | 785 | 1404 | ORPHA:211067 | Episodic ataxia type 5 | HP:0040282 - Frequent | | | 146 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:613855 | Episodic ataxia, type 5 | | | | 146 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | HP:0040282 - Frequent | | | 141 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:618564 | MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL | | | | 193 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | . | | | 54 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | . | | | 149 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | DDHD1 CL E G H | 80821 | 19714 | ORPHA:101008 | Autosomal recessive spastic paraplegia type 28 | HP:0040282 - Frequent | | | 35 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 6 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | . | | | 6 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 6 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 151 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040282 - Frequent | | | 20 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 158 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 199 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040282 - Frequent | | | 199 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 55 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040282 - Frequent | | | 55 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 7 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | . | | | 36 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | . | | | | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | GIGYF2 CL E G H | 26058 | 11960 | OMIM:607688 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11 | | | | 8 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 39 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:37612 | Episodic ataxia type 1 | HP:0040281 - Very frequent | | | 145 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040283 - Occasional | | | 17 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | HP:0040282 - Frequent | | | 35 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | . | | | 221 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 221 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240085 | Progressive supranuclear palsy-parkinsonism syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | | | | 140 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040283 - Occasional | | | 220 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 117 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | NIPA2 CL E G H | 81614 | 17044 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | | | | 85 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 23 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 9 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 28 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PINK1 CL E G H | 65018 | 14581 | OMIM:605909 | Parkinson disease 6, autosomal recessive early-onset | . | | | 55 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 55 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040282 - Frequent | | | 79 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:459033 | Ataxia-oculomotor apraxia type 4 | HP:0040283 - Occasional | | | 244 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 6 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 6 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | POU3F3 CL E G H | 5455 | 9216 | OMIM:618604 | SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS | | | | | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PRKAR1B CL E G H | 5575 | 9390 | ORPHA:412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | HP:0040282 - Frequent | | | 2 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PRKN CL E G H | 5071 | 8607 | OMIM:600116 | Parkinson disease, juvenile, type 2 | . | | | 138 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 138 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 94 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | | | | 34 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | . | | | | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | . | | | 3 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | RUBCN CL E G H | 9711 | 28991 | ORPHA:404499 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency | HP:0040283 - Occasional | | | 9 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 1053 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 70 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | . | | | 42 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | . | | | 65 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 65 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 9 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | . | | | 9 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 9 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040282 - Frequent | | | 21 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | TRPC3 CL E G H | 7222 | 12335 | OMIM:616410 | Spinocerebellar ataxia 41 | . | | | 1 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | TRPC3 CL E G H | 7222 | 12335 | ORPHA:458798 | Spinocerebellar ataxia type 41 | HP:0040282 - Frequent | | | 1 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | TUBG1 CL E G H | 7283 | 12417 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:613643 | PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5 | | | | 21 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 21 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 8 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |
HP:0002172 | HP:0002172 | Postural instability | 0 | VPS35 CL E G H | 55737 | 13487 | OMIM:614203 | Parkinson disease 17 | . | | | 37 | | |