eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| tremor | ||||
| Disease ID | 1503 |
|---|---|
| Disease | tremor |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:14) C1959629 | seizure C1855534 | logic syndrome C1527344 | dysphonia C1521736 | parkinson's disease C0796095 | c syndrome C0524851 | neurodegenerative disorder C0426980 | motor symptoms C0426768 | o sign C0422833 | ent symptoms C0235394 | wasting C0235031 | neurological symptoms C0036572 | seizures C0027765 | neurological disorders C0026650 | movement disorders |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:8) C0030567 | parkinson's disease | 40 C0426980 | motor symptoms | 16 C0426768 | o sign | 7 C0026650 | movement disorders | 4 C0036572 | seizures | 3 C0524851 | neurodegenerative disorder | 3 C1527344 | dysphonia | 1 C0036572 | seizure | 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:7) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894158 | 19244508 | 1959 | EGR2 | umls:C0040822 | BeFree | Interestingly, Egr2(I268N/I268N) mutant mice maintain normal weight and have only mild tremor until 2 weeks after birth, at which point they rapidly develop worsening weakness and uniformly die within several days. | 0.000271442 | 2009 | EGR2 | 10 | 62813835 | A | T |
| rs11868035 | 24514572 | 6622 | SNCA | umls:C0040822 | BeFree | Based on motor Unified Parkinson's Disease Rating Scale subscores, MAPT (P = .0002) and CCDC62 (P = .003) were predominantly associated with bradykinesia, and we further discovered associations between SREBF1 (rs11868035; P = .005) and gait impairment, SNCA (rs356220; P = .04) and rigidity, and GAK (rs1564282; P = .03) and tremor. | 0.000542884 | 2014 | SREBF1;RAI1 | 17 | 17811787 | G | A |
| rs1564282 | 24514572 | 6622 | SNCA | umls:C0040822 | BeFree | Based on motor Unified Parkinson's Disease Rating Scale subscores, MAPT (P = .0002) and CCDC62 (P = .003) were predominantly associated with bradykinesia, and we further discovered associations between SREBF1 (rs11868035; P = .005) and gait impairment, SNCA (rs356220; P = .04) and rigidity, and GAK (rs1564282; P = .03) and tremor. | 0.000542884 | 2014 | GAK | 4 | 858525 | C | T |
| rs281865051 | 18435766 | 120892 | LRRK2 | umls:C0040822 | BeFree | In addition, we discovered a novel LRRK2 variant V1613A in a family with a tremor dominant form of AdPD; this variant was not present in controls. | 0.002171535 | 2008 | LRRK2 | 12 | 40319998 | T | C |
| rs34637584 | 17151837 | 120892 | LRRK2 | umls:C0040822 | BeFree | We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor. | 0.002171535 | 2007 | LRRK2 | 12 | 40340400 | G | A |
| rs34637584 | 18539535 | 120892 | LRRK2 | umls:C0040822 | BeFree | Tremor was the predominant symptom in LRRK2 Gly2019Ser carriers (92% [homozygotes] vs 75% [heterozygotes] vs 69% [non-carriers]; Cochran-Armitage trend test p=0.0587). | 0.002171535 | 2008 | LRRK2 | 12 | 40340400 | G | A |
| rs356220 | 24514572 | 6622 | SNCA | umls:C0040822 | BeFree | Based on motor Unified Parkinson's Disease Rating Scale subscores, MAPT (P = .0002) and CCDC62 (P = .003) were predominantly associated with bradykinesia, and we further discovered associations between SREBF1 (rs11868035; P = .005) and gait impairment, SNCA (rs356220; P = .04) and rigidity, and GAK (rs1564282; P = .03) and tremor. | 0.000542884 | 2014 | LOC105377329 | 4 | 89720189 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
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 | 1503 |
|---|---|
| Disease | tremor |
| Case | (Waiting for update.) |