eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| progressive supranuclear palsy | ||||
| Disease ID | 40 |
|---|---|
| Disease | progressive supranuclear palsy |
| Definition | A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7) |
| Synonym | nuchal dystonia dementia syndrome nuchal dystonia-dementia syndrome ophthalmoplegia, progressive supranuclear palsy progressive supranuclear palsy, progressive supranuclear palsy, supranuclear, progressive progressive supranuclear ophthalmoplegia progressive supranuclear ophthalmoplegia (disorder) progressive supranuclear palsies progressive supranuclear palsy (disorder) psnp1 psp psp - progressive supranuclear palsy richardson syndrome richardson's syndrome richardson-steele-olszewski syndrome steele richardson olszewski dis steele richardson olszewski disease steele richardson olszewski syndrome steele-richardson-olszewski disease steele-richardson-olszewski syndrome supranuclear ophthalmoplegia, progressive supranuclear palsies, progressive supranuclear palsy, progressive supranuclear palsy, progressive [disease/finding] supranuclear palsy, progressive, 1 supranuclear progressive palsy syndrome, richardson's syndrome, steele-richardson-olszewski |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0038868 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:15) C0497327 | dementia | 4 C0030567 | parkinson's disease | 2 C0007758 | cerebellar ataxia | 2 C0011570 | depression | 1 C0004134 | ataxia | 1 C0006285 | bronchopneumonia | 1 C0002395 | alzheimer's disease | 1 C0338451 | frontotemporal dementia | 1 C0038868 | progressive supranuclear palsy | 1 C0393571 | multisystem atrophy | 1 C0030567 | parkinson disease | 1 C0013421 | dystonia | 1 C0003537 | aphasia | 1 C0035258 | restless legs syndrome | 1 C0007760 | cerebellar dysfunction | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:17) 348 | APOE | CIPHER 1394 | CRHR1 | CIPHER 4137 | MAPT | CIPHER;CTD_human 4905 | NSF | CIPHER 246744 | STH | CIPHER 7473 | WNT3 | CIPHER 9790 | BMS1 | CIPHER 926 | CD8B | CIPHER 11221 | DUSP10 | CIPHER 9451 | EIF2AK3 | CIPHER;CTD_human 3558 | IL2 | CIPHER 3662 | IRF4 | CIPHER 120892 | LRRK2 | CIPHER 4336 | MOBP | CIPHER;CTD_human 5071 | PARK2 | CIPHER 6579 | SLCO1A2 | CIPHER 10228 | STX6 | CIPHER;CTD_human |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:103) 23394 | ADNP | 2.647 | DISEASES 226 | ALDOA | 1.097 | DISEASES 79087 | ALG12 | 2.162 | DISEASES 262 | AMD1 | 1.243 | DISEASES 51326 | ARL17A | 3.065 | DISEASES 100506084 | ARL17B | 3.065 | DISEASES 84938 | ATG4C | 1.133 | DISEASES 57130 | ATP13A1 | 2.912 | DISEASES 6311 | ATXN2 | 2.089 | DISEASES 203228 | C9orf72 | 4.458 | DISEASES 23066 | CAND2 | 1.116 | DISEASES 875 | CBS | 5.898 | DISEASES 1020 | CDK5 | 2.039 | DISEASES 1103 | CHAT | 2.316 | DISEASES 26586 | CKAP2 | 1.227 | DISEASES 64506 | CPEB1 | 1.471 | DISEASES 1382 | CRABP2 | 2.38 | DISEASES 1394 | CRHR1 | 2.641 | DISEASES 1453 | CSNK1D | 1.116 | DISEASES 1486 | CTBS | 1.375 | DISEASES 1639 | DCTN1 | 3.067 | DISEASES 9879 | DDX46 | 2.565 | DISEASES 57628 | DPP10 | 1.424 | DISEASES 1804 | DPP6 | 1.184 | DISEASES 1810 | DR1 | 1.01 | DISEASES 51013 | EXOSC1 | 1.44 | DISEASES 10211 | FLOT1 | 1.107 | DISEASES 5349 | FXYD3 | 2.304 | DISEASES 2643 | GCH1 | 1.207 | DISEASES 26058 | GIGYF2 | 1.669 | DISEASES 2731 | GLDC | 1.264 | DISEASES 2737 | GLI3 | 2.244 | DISEASES 2774 | GNAL | 1.405 | DISEASES 2932 | GSK3B | 1.476 | DISEASES 10013 | HDAC6 | 1.186 | DISEASES 3009 | HIST1H1B | 1.48 | DISEASES 3006 | HIST1H1C | 4.889 | DISEASES 3316 | HSPB2 | 1.207 | DISEASES 3064 | HTT | 2.023 | DISEASES 9118 | INA | 1.274 | DISEASES 55539 | KCNQ1DN | 2.739 | DISEASES 23303 | KIF13B | 2.352 | DISEASES 25802 | LMOD1 | 2.265 | DISEASES 442721 | LMOD2 | 2.465 | DISEASES 9884 | LRRC37A | 2.678 | DISEASES 374819 | LRRC37A3 | 2.746 | DISEASES 4129 | MAOB | 2.108 | DISEASES 4133 | MAP2 | 1.65 | DISEASES 93487 | MAPK1IP1L | 2.023 | DISEASES 4137 | MAPT | 6.999 | DISEASES 4155 | MBP | 1.567 | DISEASES 51603 | METTL13 | 2.105 | DISEASES 4336 | MOBP | 4.394 | DISEASES 4803 | NGF | 1.661 | DISEASES 10577 | NPC2 | 1.511 | DISEASES 4929 | NR4A2 | 1.278 | DISEASES 51667 | NUB1 | 1.883 | DISEASES 5071 | PARK2 | 3.368 | DISEASES 11315 | PARK7 | 1.447 | DISEASES 22976 | PAXIP1 | 1.784 | DISEASES 10846 | PDE10A | 2.411 | DISEASES 5252 | PHF1 | 3.697 | DISEASES 84295 | PHF6 | 1.075 | DISEASES 8301 | PICALM | 1.688 | DISEASES 5293 | PIK3CD | 3.421 | DISEASES 23203 | PMPCA | 1.82 | DISEASES 10687 | PNMA2 | 1.391 | DISEASES 5587 | PRKD1 | 1.11 | DISEASES 5621 | PRNP | 2.184 | DISEASES 5663 | PSEN1 | 4.827 | DISEASES 5664 | PSEN2 | 1.811 | DISEASES 5710 | PSMD4 | 1.405 | DISEASES 5720 | PSME1 | 1.498 | DISEASES 55269 | PSPC1 | 2.192 | DISEASES 58155 | PTBP2 | 1.301 | DISEASES 9939 | RBM8A | 1.235 | DISEASES 343035 | RD3 | 4.077 | DISEASES 65055 | REEP1 | 1.388 | DISEASES 6231 | RPS26 | 1.686 | DISEASES 57142 | RTN4 | 1.037 | DISEASES 344892 | RTP2 | 2.64 | DISEASES 54809 | SAMD9 | 1.894 | DISEASES 6572 | SLC18A3 | 2.616 | DISEASES 292 | SLC25A5 | 2.225 | DISEASES 6533 | SLC6A6 | 1.147 | DISEASES 23583 | SMUG1 | 3.493 | DISEASES 6622 | SNCA | 4.967 | DISEASES 10772 | SRSF10 | 1.904 | DISEASES 246744 | STH | 3.12 | DISEASES 161003 | STOML3 | 2.543 | DISEASES 22987 | SV2C | 2.022 | DISEASES 6863 | TAC1 | 1.076 | DISEASES 6949 | TCOF1 | 3.713 | DISEASES 7052 | TGM2 | 1.03 | DISEASES 7054 | TH | 1.572 | DISEASES 54664 | TMEM106B | 1.241 | DISEASES 11076 | TPPP | 2.355 | DISEASES 6434 | TRA2B | 1.555 | DISEASES 54209 | TREM2 | 1.42 | DISEASES 7311 | UBA52 | 3.094 | DISEASES 7322 | UBE2D2 | 1.457 | DISEASES 7415 | VCP | 3.308 | DISEASES 161882 | ZFPM1 | 1.057 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 40 |
|---|---|
| Disease | progressive supranuclear palsy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:26) HP:0000496 | Abnormality of eye movement HP:0100543 | Cognitive impairment HP:0002015 | Dysphagia HP:0002354 | Memory impairment HP:0002527 | Falls HP:0000643 | Blepharospasm HP:0002529 | Neuronal loss in central nervous system HP:0000623 | Supranuclear ophthalmoplegia HP:0000750 | Delayed speech and language development HP:0000514 | Slow saccadic eye movements HP:0002171 | Gliosis HP:0000605 | Supranuclear gaze palsy HP:0001332 | Dystonia HP:0002120 | Cerebral cortical atrophy HP:0002067 | Bradykinesia HP:0002063 | Rigidity HP:0000726 | Dementia HP:0012535 | Abnormal synaptic transmission HP:0100710 | Impulsivity HP:0002317 | Unsteady gait HP:0002172 | Postural instability HP:0000511 | Vertical supranuclear gaze palsy HP:0001337 | Tremor HP:0002200 | Pseudobulbar signs HP:0000716 | Depression HP:0002381 | Aphasia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:21) HP:0100315 | Lewy bodies | 5 HP:0000726 | Dementia | 4 HP:0100543 | Cognitive deficits | 3 HP:0001300 | Parkinsonism | 2 HP:0002304 | Akinesia | 2 HP:0001251 | Ataxia | 2 HP:0012444 | Brain wasting | 2 HP:0001337 | Tremor | 1 HP:0002381 | Aphasia | 1 HP:0004409 | Decreased smell sensation | 1 HP:0000716 | Depression | 1 HP:0000708 | Behavioral problems | 1 HP:0002375 | Decreased spontaneous movement | 1 HP:0001336 | Myoclonic jerks | 1 HP:0002145 | Frontotemporal dementia | 1 HP:0000016 | Urinary retention | 1 HP:0002527 | Falls | 1 HP:0002500 | Leukoaraiosis | 1 HP:0000722 | Obsessive compulsive disorder | 1 HP:0001268 | Mental deterioration | 1 HP:0001332 | Dystonia | 1 |
| Disease ID | 40 |
|---|---|
| Disease | progressive supranuclear palsy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:47) C2598155 | pain C2364114 | tremor C2364072 | depression C2315430 | orthostatic tremor C2242577 | oromandibular dystonia C2220255 | motor disturbances C1963237 | insomnia C1963184 | nystagmus C1963138 | hypertension C1863307 | f syndrome C1260405 | frontal dementia C1112261 | gaze palsy C0851578 | sleep disturbances C0751772 | rem sleep behavior disorder C0751093 | limb dystonia C0748903 | spinal cord involvement C0740852 | upper airway obstruction C0700109 | rigidity C0679466 | cognitive deficits C0677545 | presenile dementia C0497327 | dementia C0454600 | hypokinetic dysarthria C0410000 | overlap syndrome C0393593 | dystonia C0338451 | frontotemporal dementia C0242422 | parkinsonism C0242422 | parkinsonian syndrome C0235946 | cortical atrophy C0235946 | cerebral atrophy C0235946 | brain atrophy C0234527 | motor apraxia C0234131 | motor dysfunction C0233763 | visual hallucinations C0233401 | psychiatric symptoms C0221163 | motor disorders C0154671 | brain degeneration C0152134 | internuclear ophthalmoplegia C0037822 | speech disorders C0036572 | seizures C0029089 | ophthalmoplegia C0028850 | eye movement disorders C0025261 | memory disorders C0023788 | whipple's disease C0013384 | dyskinesia C0011168 | dysphagia C0005747 | blepharospasm C0003537 | aphasia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:9) C0497327 | dementia | 4 C0242422 | parkinsonism | 2 C0011570 | depression | 1 C0040822 | tremor | 1 C0235946 | brain atrophy | 1 C0154671 | brain degeneration | 1 C0338451 | frontotemporal dementia | 1 C0013421 | dystonia | 1 C0003537 | aphasia | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:44) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11568563 | 21685912 | 6579 | SLCO1A2 | umls:C0038868 | GAD | [Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.] | 0.122638474 | 2011 | SLCO1A2 | 12 | 21304500 | T | G |
| rs11568563 | 21685912 | 6579 | SLCO1A2 | umls:C0038868 | GWASCAT | Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. | 0.122638474 | 2011 | SLCO1A2 | 12 | 21304500 | T | G |
| rs11568563 | 22685416 | 6579 | SLCO1A2 | umls:C0038868 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.122638474 | 2012 | SLCO1A2 | 12 | 21304500 | T | G |
| rs11568563 | 22685416 | 22915 | MMRN1 | umls:C0038868 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | SLCO1A2 | 12 | 21304500 | T | G |
| rs12203592 | 21685912 | 3662 | IRF4 | umls:C0038868 | GAD | [Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.] | 0.122367032 | 2011 | IRF4 | 6 | 396321 | C | T |
| rs12203592 | 21685912 | 3662 | IRF4 | umls:C0038868 | GWASCAT | Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. | 0.122367032 | 2011 | IRF4 | 6 | 396321 | C | T |
| rs137853058 | 12465088 | 5071 | PARK2 | umls:C0038868 | BeFree | Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein. | 0.003181358 | 2002 | PARK2 | 6 | 161973401 | C | T |
| rs1411478 | 21685912 | 10228 | STX6 | umls:C0038868 | GWASCAT | We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. | 0.242909916 | 2011 | STX6 | 1 | 180993146 | A | G |
| rs1411478 | 23415606 | 4905 | NSF | umls:C0038868 | BeFree | A variant in Syntaxin 6 (a soluble N-ethylmaleimide-sensitive factor attachment protein receptor STX6) (rs1411478) has been shown to be associated with progressive supranuclear palsy (PSP). | 0.002638474 | 2013 | STX6 | 1 | 180993146 | A | G |
| rs1411478 | 23415606 | 10228 | STX6 | umls:C0038868 | BeFree | A variant in Syntaxin 6 (a soluble N-ethylmaleimide-sensitive factor attachment protein receptor STX6) (rs1411478) has been shown to be associated with progressive supranuclear palsy (PSP). | 0.242909916 | 2013 | STX6 | 1 | 180993146 | A | G |
| rs1411478 | 21685912 | 10228 | STX6 | umls:C0038868 | GAD | [We found significant previously unidentified signals (P < 5 A 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP.] | 0.242909916 | 2011 | STX6 | 1 | 180993146 | A | G |
| rs1561570 | 22685416 | 22915 | MMRN1 | umls:C0038868 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | OPTN | 10 | 13113726 | T | C |
| rs1561570 | 22685416 | 6579 | SLCO1A2 | umls:C0038868 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.122638474 | 2012 | OPTN | 10 | 13113726 | T | C |
| rs1701704 | 22685416 | 6579 | SLCO1A2 | umls:C0038868 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.122638474 | 2012 | IKZF4;LOC105369781 | 12 | 56018703 | T | G |
| rs1701704 | 22685416 | 22915 | MMRN1 | umls:C0038868 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | IKZF4;LOC105369781 | 12 | 56018703 | T | G |
| rs1768208 | 21685912 | 4336 | MOBP | umls:C0038868 | GWASCAT | We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. | 0.242638474 | 2011 | MOBP | 3 | 39481512 | T | C |
| rs1768208 | 21685912 | 4336 | MOBP | umls:C0038868 | GAD | [We found significant previously unidentified signals (P < 5 A 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP.] | 0.242638474 | 2011 | MOBP | 3 | 39481512 | T | C |
| rs1801582 | 18022644 | 5071 | PARK2 | umls:C0038868 | BeFree | No patients had mutations of Park2 or MAPT but there was genetic association for the polymorphism Val380Leu in sporadic and familial PSP. | 0.003181358 | 2008 | PARK2 | 6 | 161386823 | C | T,G |
| rs1801582 | 18022644 | 4137 | MAPT | umls:C0038868 | BeFree | No patients had mutations of Park2 or MAPT but there was genetic association for the polymorphism Val380Leu in sporadic and familial PSP. | 0.558157699 | 2008 | PARK2 | 6 | 161386823 | C | T,G |
| rs2142991 | 21685912 | 9790 | BMS1 | umls:C0038868 | GAD | [Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.] | 0.002367032 | 2011 | NA | 10 | 42845657 | C | T |
| rs242557 | 21685912 | 4137 | MAPT | umls:C0038868 | GAD | [We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression.] | 0.558157699 | 2011 | MAPT | 17 | 45942346 | G | A |
| rs242557 | 22685416 | 22915 | MMRN1 | umls:C0038868 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | MAPT | 17 | 45942346 | G | A |
| rs242557 | 21685912 | 4137 | MAPT | umls:C0038868 | GWASCAT | We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. | 0.558157699 | 2011 | MAPT | 17 | 45942346 | G | A |
| rs242557 | 22685416 | 6579 | SLCO1A2 | umls:C0038868 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.122638474 | 2012 | MAPT | 17 | 45942346 | G | A |
| rs4728142 | 22685416 | 22915 | MMRN1 | umls:C0038868 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | NA | 7 | 128933913 | G | A |
| rs4728142 | 22685416 | 6579 | SLCO1A2 | umls:C0038868 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.122638474 | 2012 | NA | 7 | 128933913 | G | A |
| rs63749855 | 20838030 | 4137 | MAPT | umls:C0038868 | BeFree | Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome. | 0.558157699 | 2011 | MAPT | 17 | 46014271 | T | G |
| rs63750425 | NA | 4137 | MAPT | umls:C0038868 | CLINVAR | NA | 0.558157699 | NA | MAPT | 17 | 46018675 | C | T |
| rs63750959 | 12325083 | 4137 | MAPT | umls:C0038868 | UNIPROT | MAPT, the gene encoding tau, was screened for mutations in 96 progressive supranuclear palsy subjects. | 0.558157699 | 2002 | MAPT | 17 | 45962351 | G | A,T |
| rs63750959 | NA | 4137 | MAPT | umls:C0038868 | CLINVAR | NA | 0.558157699 | NA | MAPT | 17 | 45962351 | G | A,T |
| rs63751273 | NA | 4137 | MAPT | umls:C0038868 | CLINVAR | NA | 0.558157699 | NA | MAPT | 17 | 46010389 | C | T |
| rs63751391 | NA | 4137 | MAPT | umls:C0038868 | CLINVAR | NA | 0.558157699 | NA | MAPT | 17 | 46010395 | G | T |
| rs6532197 | 22685416 | 6579 | SLCO1A2 | umls:C0038868 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.122638474 | 2012 | NA | 4 | 89876150 | A | G |
| rs6532197 | 22685416 | 22915 | MMRN1 | umls:C0038868 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | NA | 4 | 89876150 | A | G |
| rs6547705 | 21685912 | 926 | CD8B | umls:C0038868 | GWASCAT | Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. | 0.122367032 | 2011 | CD8B;LOC105374846 | 2 | 86817193 | G | A |
| rs6547705 | 21685912 | 926 | CD8B | umls:C0038868 | GAD | [Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.] | 0.122367032 | 2011 | CD8B;LOC105374846 | 2 | 86817193 | G | A |
| rs6687758 | 21685912 | 11221 | DUSP10 | umls:C0038868 | GAD | [Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.] | 0.002367032 | 2011 | NA | 1 | 221991606 | A | G |
| rs6852535 | 21685912 | 3558 | IL2 | umls:C0038868 | GAD | [Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.] | 0.002367032 | 2011 | NA | 4 | 122557561 | G | A |
| rs7571971 | 21685912 | 9451 | EIF2AK3 | umls:C0038868 | GWASCAT | We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. | 0.242367032 | 2011 | EIF2AK3 | 2 | 88595833 | T | C |
| rs7571971 | 21685912 | 9451 | EIF2AK3 | umls:C0038868 | GAD | [We found significant previously unidentified signals (P < 5 A 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP.] | 0.242367032 | 2011 | EIF2AK3 | 2 | 88595833 | T | C |
| rs75932628 | 23800361 | 54209 | TREM2 | umls:C0038868 | BeFree | A significant association was observed for the TREM2 p.R47H substitution in susceptibility to frontotemporal dementia (OR = 5.06; p-value = 0.001) and Parkinson's disease (OR = 2.67; p-value = 0.026), while no evidence of association with risk of amyotrophic lateral sclerosis, progressive supranuclear palsy or ischemic stroke was observed. | 0.000271442 | 2013 | TREM2;LOC105375056 | 6 | 41161514 | C | A,T |
| rs76980269 | 18042235 | 4842 | NOS1 | umls:C0038868 | BeFree | Eighty-nine patients with different neurodegenerative tau-related disorders, including 71 patients with frontotemporal lobar degeneration (FTLD), 12 with progressive supranuclear palsy (PSP) and 6 with corticobasal degeneration (CBD), were genotyped for the C276T single nucleotide polymorphism (SNP) in exon 29 of the nNOS gene and compared with 190 age-matched controls (CON). | 0.000271442 | 2008 | NOS1 | 12 | 117330794 | G | A |
| rs8070723 | 21685912 | 4137 | MAPT | umls:C0038868 | GAD | [We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression.] | 0.558157699 | 2011 | MAPT | 17 | 46003698 | A | G |
| rs8070723 | 21685912 | 4137 | MAPT | umls:C0038868 | GWASCAT | We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. | 0.558157699 | 2011 | MAPT | 17 | 46003698 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:116) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 1 | 69939539 | rs10789294 | G | C | rs10789294 | 21685912 | 6.72E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 69948854 | rs1952142 | C | G | rs1952142 | 21685912 | 7.92E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 69960136 | rs1341795 | T | G | rs1341795 | 21685912 | 3.94E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 72045626 | rs10889921 | T | C | rs10889921 | 21685912 | 7.25E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 85111124 | rs2911613 | C | A | rs2911613 | 21685912 | 2.59E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 168463868 | rs16860688 | T | G | rs16860688 | 21685912 | 1.34E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 180962282 | rs1411478 | A | G | rs1411478 | 21685912 | 4.00E-11 | NA | 1.27 | [1.19-1.37] | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 181532332 | rs10910960 | G | A | rs10910960 | 21685912 | 1.15E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 188678917 | rs10921075 | C | A,T | rs10921075 | 21685912 | 7.50E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 189180993 | rs1342553 | A | G | rs1342553 | 21685912 | 1.27E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 222164948 | rs6687758 | A | G | rs6687758 | 21685912 | 6.00E-08 | NA | 1.27 | [1.16-1.39] | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 1 | 238369006 | rs1976011 | T | C | rs1976011 | 21685912 | 1.39E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 2 | 13846734 | rs1446542 | T | C | rs1446542 | 21685912 | 2.33E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 2 | 46087873 | rs1992932 | T | C | rs1992932 | 21685912 | 9.73E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 2 | 46093760 | rs10189339 | G | A | rs10189339 | 21685912 | 1.49E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 2 | 65975754 | rs13431495 | G | T | rs13431495 | 21685912 | 6.74E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 2 | 71152850 | rs6748268 | T | C | rs6748268 | 21685912 | 4.96E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 2 | 87044316 | rs6547705 | G | A | rs6547705 | 21685912 | 1.00E-08 | controlling for rs7571971 | 1.28 | [1.18-1.40] | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 2 | 88895351 | rs7571971 | T | C | rs7571971 | 21685912 | 4.00E-13 | NA | 1.33 | [1.22-1.43] | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 2 | 107805650 | rs2191586 | A | T | rs2191586 | 21685912 | 1.44E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 2 | 169763560 | rs10166439 | C | T | rs10166439 | 21685912 | 6.51E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 2 | 183667233 | rs16823704 | A | C | rs16823704 | 21685912 | 1.03E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 3 | 8509497 | rs17049174 | G | A | rs17049174 | 21685912 | 3.04E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 3 | 23150308 | rs9826624 | C | A | rs9826624 | 21685912 | 4.82E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 3 | 23150473 | rs9827163 | G | C | rs9827163 | 21685912 | 8.01E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 3 | 39523003 | rs1768208 | T | C | rs1768208 | 21685912 | 5.00E-17 | NA | 1.37 | [1.28-1.49] | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 3 | 98737270 | rs2449066 | G | A | rs2449066 | 21685912 | 1.36E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 3 | 140258520 | rs349549 | T | C | rs349549 | 21685912 | 6.21E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 3 | 192251697 | rs11705857 | A | G | rs11705857 | 21685912 | 1.48E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 4 | 5058979 | rs7655852 | C | A | rs7655852 | 21685912 | 1.19E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 4 | 25875261 | rs1545606 | G | A | rs1545606 | 21685912 | 3.35E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 4 | 77681958 | rs17002201 | C | T | rs17002201 | 21685912 | 2.21E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 4 | 84224498 | rs11099590 | T | G | rs11099590 | 21685912 | 1.37E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 4 | 110893992 | rs17041111 | A | G | rs17041111 | 21685912 | 1.18E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 4 | 123478716 | rs6852535 | G | A | rs6852535 | 21685912 | 1.00E-07 | NA | 1.23 | [1.13-1.32] | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 4 | 178199486 | rs6856498 | T | G | rs6856498 | 21685912 | 1.49E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 5 | 124127720 | rs4435859 | T | C | rs4435859 | 21685912 | 4.04E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 5 | 174939214 | rs925197 | C | T | rs925197 | 21685912 | 1.07E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 5 | 178072635 | rs4413550 | T | G | rs4413550 | 21685912 | 6.19E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 6 | 329869 | rs9328127 | G | A | rs9328127 | 21685912 | 8.48E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 6 | 396321 | rs12203592 | C | T | rs12203592 | 21685912 | 6.00E-15 | NA | 1.48 | [1.34-1.63] | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 6 | 21023748 | rs16884396 | A | G | rs16884396 | 21685912 | 3.12E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 6 | 78351916 | rs898040 | G | A | rs898040 | 21685912 | 1.32E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 6 | 157915006 | rs4709298 | G | C | rs4709298 | 21685912 | 1.17E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 6 | 169560839 | rs1123753 | A | C | rs1123753 | 21685912 | 1.09E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 47601082 | rs12155302 | C | T | rs12155302 | 21685912 | 1.43E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 7 | 148245802 | rs10280425 | C | T | rs10280425 | 21685912 | 1.18E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 8 | 26023492 | rs2952017 | C | T | rs2952017 | 21685912 | 1.34E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 8 | 26024267 | rs7822763 | C | T | rs7822763 | 21685912 | 1.47E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 8 | 74453600 | rs7812995 | G | A | rs7812995 | 21685912 | 9.65E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 8 | 97182269 | rs2466130 | A | G | rs2466130 | 21685912 | 3.23E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 8 | 102484486 | rs539674 | C | T | rs539674 | 21685912 | 5.87E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 8 | 103574663 | rs2436893 | G | A | rs2436893 | 21685912 | 7.49E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 8 | 106943245 | rs1353449 | G | A | rs1353449 | 21685912 | 1.04E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 8 | 106943787 | rs7013082 | G | A | rs7013082 | 21685912 | 1.41E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 8 | 106958185 | rs11988877 | G | A | rs11988877 | 21685912 | 1.01E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 8 | 108227061 | rs7017095 | T | C | rs7017095 | 21685912 | 9.97E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 9 | 651333 | rs9407332 | T | A | rs9407332 | 21685912 | 1.30E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 9 | 651461 | rs9407334 | C | T | rs9407334 | 21685912 | 8.26E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 9 | 71647375 | rs3763608 | T | C | rs3763608 | 21685912 | 6.47E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 9 | 71676088 | rs2309393 | C | T | rs2309393 | 21685912 | 7.10E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 9 | 85905861 | rs942280 | C | T | rs942280 | 21685912 | 1.48E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 9 | 85907516 | rs10867977 | A | G | rs10867977 | 21685912 | 1.40E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 2914753 | rs4370836 | A | C | rs4370836 | 21685912 | 5.96E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 2916558 | rs4382808 | A | G | rs4382808 | 21685912 | 5.96E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 5101104 | rs4881388 | C | T | rs4881388 | 21685912 | 1.39E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 12446572 | rs1892302 | T | C | rs1892302 | 21685912 | 9.38E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 43341105 | rs2142991 | C | T | rs2142991 | 21685912 | 3.00E-07 | NA | 1.3 | [1.18-1.44] | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 115480582 | rs11196449 | T | C | rs11196449 | 21685912 | 5.41E-06 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 122581396 | rs11199581 | A | C | rs11199581 | 21685912 | 1.37E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 10 | 122582613 | rs1254152 | G | A | rs1254152 | 21685912 | 1.14E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 11 | 47237680 | rs2291120 | T | C | rs2291120 | 17357082 | 4.00E-04 | NA | NA | NA | 288 cases; 344 controls | NOPOP(632) | ALL(632) | NOPOP(632) | ALL(632) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T | DDB2 |
| 11 | 47260319 | rs901746 | A | G | rs901746 | 17357082 | 1.00E-04 | NA | NA | NA | 288 cases; 344 controls | NOPOP(632) | ALL(632) | NOPOP(632) | ALL(632) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G | DDB2 |
| 11 | 47273089 | rs3758671 | G | C | rs3758671 | 17357082 | 9.00E-04 | NA | NA | NA | 288 cases; 344 controls | NOPOP(632) | ALL(632) | NOPOP(632) | ALL(632) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G | NR1H3 |
| 11 | 47293457 | rs7114704 | C | T | rs7114704 | 17357082 | 6.00E-04 | NA | NA | NA | 288 cases; 344 controls | NOPOP(632) | ALL(632) | NOPOP(632) | ALL(632) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | MADD |
| 11 | 47293799 | rs10501320 | G | C | rs10501320 | 17357082 | 1.00E-04 | NA | NA | NA | 288 cases; 344 controls | NOPOP(632) | ALL(632) | NOPOP(632) | ALL(632) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G | MADD |
| 11 | 106620010 | rs11608184 | G | A | rs11608184 | 21685912 | 7.48E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 11 | 106630756 | rs12798695 | C | T | rs12798695 | 21685912 | 1.07E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 11 | 123196208 | rs7107396 | A | G | rs7107396 | 21685912 | 5.65E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 11 | 133489916 | rs4245120 | C | A | rs4245120 | 21685912 | 1.37E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 11 | 133490944 | rs10791298 | G | T | rs10791298 | 21685912 | 1.48E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 12 | 11971623 | rs12827379 | C | G | rs12827379 | 21685912 | 8.54E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 12 | 16519020 | rs2160512 | A | G | rs2160512 | 21685912 | 1.45E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 12 | 21457434 | rs11568563 | T | G | rs11568563 | 21685912 | 7.00E-08 | NA | 1.47 | [1.28-1.69] | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 12 | 40303631 | rs17127259 | G | A | rs17127259 | 21685912 | 1.63E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 12 | 40709413 | rs721709 | T | A | rs721709 | 21685912 | 1.36E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 12 | 58802241 | rs11172591 | C | G | rs11172591 | 21685912 | 2.83E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 12 | 97291848 | rs252170 | A | G | rs252170 | 21685912 | 8.95E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 12 | 124162750 | rs7958693 | G | A | rs7958693 | 21685912 | 1.46E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 12 | 124172731 | rs7313032 | G | A | rs7313032 | 21685912 | 1.26E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 13 | 84282654 | rs7334855 | A | C | rs7334855 | 21685912 | 5.99E-06 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 13 | 92579249 | rs7327372 | C | A | rs7327372 | 21685912 | 1.20E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 13 | 92629857 | rs12184638 | A | G | rs12184638 | 21685912 | 9.41E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 13 | 103135443 | rs1927369 | C | A | rs1927369 | 21685912 | 7.65E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 13 | 107162943 | rs11840214 | A | G | rs11840214 | 21685912 | 1.44E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 14 | 51293706 | rs2181083 | C | T | rs2181083 | 21685912 | 4.01E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 14 | 68101454 | rs17249444 | G | C | rs17249444 | 21685912 | 1.25E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 14 | 93358111 | rs12434641 | T | C | rs12434641 | 21685912 | 4.97E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 14 | 99056611 | rs4900409 | C | T | rs4900409 | 21685912 | 1.38E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 14 | 100847707 | rs2273800 | A | G | rs2273800 | 21685912 | 5.68E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 14 | 100847930 | rs3742387 | A | G | rs3742387 | 21685912 | 5.91E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 15 | 54891716 | rs10152907 | A | G | rs10152907 | 21685912 | 1.44E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 15 | 62427973 | rs11071655 | C | T | rs11071655 | 21685912 | 3.04E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 15 | 80033626 | rs429217 | C | T | rs429217 | 21685912 | 1.18E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 15 | 88396099 | rs7164376 | T | C | rs7164376 | 21685912 | 7.67E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 16 | 20238586 | rs7191955 | T | C | rs7191955 | 21685912 | 5.66E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 17 | 10095453 | rs7225158 | C | T | rs7225158 | 21685912 | 1.31E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 17 | 44019712 | rs242557 | G | A | rs242557 | 21685912 | 9.00E-18 | controlling for rs8070723 | 1.43 | [1.32-1.54] | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 17 | 44081064 | rs8070723 | A | G | rs8070723 | 21685912 | 2.00E-118 | NA | 5.11 | [4.43-5.91] | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 18 | 38478813 | rs323598 | C | T | rs323598 | 21685912 | 1.37E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 19 | 40778866 | rs969531 | T | C | rs969531 | 21685912 | 1.09E-04 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 19 | 40848081 | rs4802074 | C | G | rs4802074 | 21685912 | 6.75E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 19 | 43467855 | rs4352152 | G | A | rs4352152 | 21685912 | 5.02E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 20 | 635054 | rs6107706 | T | G | rs6107706 | 21685912 | 6.57E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 20 | 19685244 | rs6046263 | T | A | rs6046263 | 21685912 | 1.85E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
| 20 | 19691446 | rs4814885 | A | G | rs4814885 | 21685912 | 8.29E-05 | NA | NA | NA | 1,114 cases; 3,287 controls | NOPOP(4401) | ALL(4401) | NOPOP(4401) | ALL(4401) | Progressive supranuclear palsy | HPOID:0000605 | Supranuclear gaze palsy | DOID:678 | progressive supranuclear palsy | D013494 | Supranuclear Palsy, Progressive | progressive supranuclear palsy | Supranuclear palsy, progressive | NA | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002529 | Neuronal loss in central nervous system | MP:0005499 | abnormal olfactory system morphology | any structural anomaly of the organs involved in smell |
| HP:0002317 | Unsteady gait | MP:0001406 | abnormal gait | abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0000496 | Abnormality of eye movement | MP:0012287 | increased frequency of paradoxical sleep | increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| HP:0000750 | Delayed speech and language development | MP:0012251 | abnormal diaphragm development | malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration |
| HP:0000514 | Slow saccadic eye movements | MP:0000436 | abnormal head movements | any anomaly in the motion of the portion of the body containing the brain and organs of sight, hearing, taste, and smell |
Mapped by homologous gene(Total Items:25) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002063 | Rigidity | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002381 | Aphasia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000623 | Supranuclear ophthalmoplegia | MP:0012676 | dilated brain ventricles | the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000514 | Slow saccadic eye movements | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000605 | Supranuclear gaze palsy | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0002171 | Gliosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000511 | Vertical supranuclear gaze palsy | MP:0012232 | abnormal ceramide level | |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002200 | Pseudobulbar signs | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002317 | Unsteady gait | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000643 | Blepharospasm | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000726 | Dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002354 | Memory impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000496 | Abnormality of eye movement | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000750 | Delayed speech and language development | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002527 | Falls | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0100710 | Impulsivity | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0002067 | Bradykinesia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002529 | Neuronal loss in central nervous system | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002172 | Postural instability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 40 |
|---|---|
| Disease | progressive supranuclear palsy |
| Case | (Waiting for update.) |