eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dystonia | ||||
| Disease ID | 402 |
|---|---|
| Disease | dystonia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:29) C2712340 | dyspnea C2364114 | tremor C2364072 | depression C1963087 | constipation C1963064 | anxiety C1518715 | homunculus C1439329 | homocystinuria C1334804 | motor manifestations C1096335 | radiculomyelopathy C1096335 | myeloradiculopathy C0575081 | gait disturbance C0426980 | motor symptoms C0342776 | complex i deficiency C0270814 | spastic syndrome C0264162 | camptocormia C0262471 | ent problem C0262405 | cerebral dysfunction C0235169 | excitability C0221163 | motor disorders C0037933 | spinal disease C0035258 | restless legs syndrome C0031117 | peripheral neuropathy C0027765 | neurological disorders C0027765 | neurologic disorder C0027066 | myoclonus C0026650 | movement disorders C0015371 | extrapyramidal syndrome C0013384 | abnormal movements C0001430 | adenoma |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:10) C0040822 | tremor | 15 C0026650 | movement disorders | 3 C0235169 | excitability | 2 C0027066 | myoclonus | 2 C0426980 | motor symptoms | 2 C0011570 | depression | 2 C0013384 | abnormal movements | 1 C0027765 | neurological disorders | 1 C0027765 | neurologic disorder | 1 C1334804 | motor manifestations | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1182 | 19202559 | 1861 | TOR1A | umls:C0013421 | BeFree | We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. | 0.204343442 | 2009 | TOR1A | 9 | 129813781 | C | A |
| rs121434410 | 26231208 | 8575 | PRKRA | umls:C0013421 | BeFree | A recessively inherited form of early-onset dystonia DYT16 has been recently identified to arise due to a homozygous missense mutation P222L in PACT. | 0.125981653 | 2015 | PRKRA;LOC101927027 | 2 | 178436264 | G | A |
| rs121908683 | 19087156 | 8398 | PLA2G6 | umls:C0013421 | BeFree | R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family. | 0.002714419 | 2009 | PLA2G6 | 22 | 38115667 | G | A |
| rs121917763 | 10661862 | 7054 | TH | umls:C0013421 | BeFree | The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia/Segawa's syndrome, but early-onset parkinsonism. | 0.131973237 | 1999 | TH | 11 | 2167896 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:10) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
| 3 | 54378600 | rs11711956 | A | G | rs11711956 | 24375517 | 2.00E-06 | NA | 1.73 | [1.38-2.18] | 127 European ancestry cases; 984 European ancestry controls | European(1111) | ALL(1111) | EUR(1111) | ALL(1111) | Musician's dystonia | HPOID:0001332 | Dystonia | DOID:543 | dystonia | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | G | CACNA2D3 |
| 5 | 163869843 | rs6556752 | C | T | rs6556752 | 24375517 | 1.32E-04 | NA | 6.6 | [2.51-17.37] | 127 European ancestry cases; 984 European ancestry controls | European(1111) | ALL(1111) | EUR(1111) | ALL(1111) | Musician's dystonia | HPOID:0001332 | Dystonia | DOID:543 | dystonia | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | T | LOC100507193 |
| 7 | 76962868 | rs11983527 | C | G | rs11983527 | 24375517 | 2.91E-04 | NA | 1.5 | [1.20-1.86] | 127 European ancestry cases; 984 European ancestry controls | European(1111) | ALL(1111) | EUR(1111) | ALL(1111) | Musician's dystonia | HPOID:0001332 | Dystonia | DOID:543 | dystonia | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | G | PION |
| 7 | 76968595 | rs11505827 | G | A | rs11505827 | 24375517 | 3.48E-04 | NA | 1.48 | [1.20-1.84] | 127 European ancestry cases; 984 European ancestry controls | European(1111) | ALL(1111) | EUR(1111) | ALL(1111) | Musician's dystonia | HPOID:0001332 | Dystonia | DOID:543 | dystonia | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | A | PION |
| 8 | 26922112 | rs17060993 | T | A | rs17060993 | 24375517 | 2.00E-06 | NA | 2.7 | [1.80-4.06] | 127 European ancestry cases; 984 European ancestry controls | European(1111) | ALL(1111) | EUR(1111) | ALL(1111) | Musician's dystonia | HPOID:0001332 | Dystonia | DOID:543 | dystonia | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | T | NA |
| 10 | 70304269 | rs5030881 | G | A | rs5030881 | 24375517 | 2.56E-04 | NA | 2.78 | [1.61-4.82] | 127 European ancestry cases; 984 European ancestry controls | European(1111) | ALL(1111) | EUR(1111) | ALL(1111) | Musician's dystonia | HPOID:0001332 | Dystonia | DOID:543 | dystonia | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | C | NA |
| 13 | 43111120 | rs7491228 | C | T | rs7491228 | 24375517 | 4.35E-04 | NA | 1.5 | [1.20-1.88] | 127 European ancestry cases; 984 European ancestry controls | European(1111) | ALL(1111) | EUR(1111) | ALL(1111) | Musician's dystonia | HPOID:0001332 | Dystonia | DOID:543 | dystonia | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | C | NA |
| 13 | 43121473 | rs9594780 | A | G | rs9594780 | 24375517 | 1.88E-04 | NA | 1.54 | [1.23-1.93] | 127 European ancestry cases; 984 European ancestry controls | European(1111) | ALL(1111) | EUR(1111) | ALL(1111) | Musician's dystonia | HPOID:0001332 | Dystonia | DOID:543 | dystonia | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | A | NA |
| 14 | 98649816 | rs9323992 | C | T | rs9323992 | 24375517 | 1.31E-05 | NA | 1.67 | [1.33-2.10] | 127 European ancestry cases; 984 European ancestry controls | European(1111) | ALL(1111) | EUR(1111) | ALL(1111) | Musician's dystonia | HPOID:0001332 | Dystonia | DOID:543 | dystonia | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | C | NA |
| 17 | 66382209 | rs11655081 | T | C | rs11655081 | 24375517 | 4.00E-09 | NA | 4.33 | [2.66-7.05] | 127 European ancestry cases; 984 European ancestry controls | European(1111) | ALL(1111) | EUR(1111) | ALL(1111) | Musician's dystonia | HPOID:0001332 | Dystonia | DOID:543 | dystonia | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | C | ARSG |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 402 |
|---|---|
| Disease | dystonia |
| Case | (Waiting for update.) |