collagen disease |
Disease ID | 1229 |
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Disease | collagen disease |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:27) C1619734 | pulmonary arterial hypertension | 33 C0030193 | pain | 17 C0206062 | interstitial lung disease | 16 C0009450 | infection | 14 C0020542 | pulmonary hypertension | 12 C0042384 | vasculitis | 9 C0034735 | raynaud's phenomenon | 9 C0015672 | fatigue | 7 C0034069 | pulmonary fibrosis | 6 C0748159 | pulmonary involvement | 4 C0206061 | interstitial pneumonia | 3 C0010823 | cmv infection | 2 C0027121 | myositis | 2 C0006663 | calcinosis | 2 C0029456 | osteoporosis | 2 C0027121 | inflammatory myopathy | 2 C1096155 | macrophage activation syndrome | 2 C0151825 | skeletal pain | 1 C0003467 | anxiety | 1 C2062356 | idiopathic portal hypertension | 1 C0231303 | distress | 1 C0022116 | ischemia | 1 C0020538 | hypertension | 1 C0026848 | myopathy | 1 C0152177 | trigeminal neuropathy | 1 C0030326 | panniculitis | 1 C0027051 | myocardial infarct | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:2) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs10903323 | 22657383 | 4482 | MSRA | umls:C0035435 | BeFree | A total of 1302 patients fulfilling the 1987 American College of Rheumatism classification criteria for RA were genotyped for the MSRA rs10903323 (G/A) polymorphism. | 0.000271442 | 2012 | MSRA | 8 | 10292057 | A | G |
rs121912876 | 17726487 | 1280 | COL2A1 | umls:C0009326 | BeFree | The R275C mutation in the COL2A1 gene causes a specific type II collagen disorder that was recently delineated as Czech dysplasia. | 0.000814326 | 2007 | COL2A1 | 12 | 47994041 | G | A |
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.) |
Chemical(Total Drugs:0) | |
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(Waiting for update.) |
FDA approved drug and dosage information(Total Drugs:0) | |
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(Waiting for update.) |
FDA labeling changes(Total Drugs:0) | |
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(Waiting for update.) |