PedAM
Pediatric Disease Annotations & Medicines
| arthropathy | ||||
| Disease ID | 836 |
|---|---|
| Disease | arthropathy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:8) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11209026 | 23093722 | 149233 | IL23R | umls:C0022408 | BeFree | A trend was demonstrated for the minor allele of rs11209026 (IL23R) to be less frequent in patients with erosive joint disease than in those without erosions or controls (7%, 14% and 12%, respectively). | 0.000271442 | 2013 | IL23R | 1 | 67240275 | G | A |
| rs1799945 | 18061976 | 3077 | HFE | umls:C0022408 | BeFree | At multivariate analysis MCP arthropathy was independently associated with older age [odds ratio (OR) 1.20, 95% confidence interval (CI) 1.1-1.33/yr; p = 0.0001], higher ferritin levels at diagnosis (OR 4.17, 95% CI 1.60-13.9 for values > 1000 ng/ml; p = 0.008), the presence of the C282Y +/+ and C282Y/H63D HFE genotypes (OR 2.69, 95% CI 1.09-7.87; p = 0.04), and higher percentage transferrin saturation (OR 1.05, 95% CI 1-1.1; p = 0.05). | 0.011368221 | 2008 | HFE | 6 | 26090951 | C | G |
| rs1799945 | 16583477 | 3077 | HFE | umls:C0022408 | BeFree | To test the hypothesis that possession of either C282Y or H63D mutations in the HFE gene is associated with primary osteoarthritis (OA) in joints commonly affected in hemochromatotic arthropathy. | 0.011368221 | 2006 | HFE | 6 | 26090951 | C | G |
| rs1800562 | 18061976 | 3077 | HFE | umls:C0022408 | BeFree | At multivariate analysis MCP arthropathy was independently associated with older age [odds ratio (OR) 1.20, 95% confidence interval (CI) 1.1-1.33/yr; p = 0.0001], higher ferritin levels at diagnosis (OR 4.17, 95% CI 1.60-13.9 for values > 1000 ng/ml; p = 0.008), the presence of the C282Y +/+ and C282Y/H63D HFE genotypes (OR 2.69, 95% CI 1.09-7.87; p = 0.04), and higher percentage transferrin saturation (OR 1.05, 95% CI 1-1.1; p = 0.05). | 0.011368221 | 2008 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 23990522 | 3077 | HFE | umls:C0022408 | BeFree | RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis probands with HFE C282Y homozygosity: age; sex; BMI; diabetes reports in first-degree family members (dichotomous); heavy ethanol consumption; cigarette smoking; elevated serum alanine aminotransferase/aspartate aminotransferase levels; nonalcoholic fatty liver; chronic viral hepatitis; cirrhosis; hand arthropathy; iron removed by phlebotomy; and positivity for HLA-A*01, B*08; A*03, B*07; and A*03, B*14 haplotypes. | 0.011368221 | 2015 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 16583477 | 3077 | HFE | umls:C0022408 | BeFree | To test the hypothesis that possession of either C282Y or H63D mutations in the HFE gene is associated with primary osteoarthritis (OA) in joints commonly affected in hemochromatotic arthropathy. | 0.011368221 | 2006 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 23990522 | 3105 | HLA-A | umls:C0022408 | BeFree | RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis probands with HFE C282Y homozygosity: age; sex; BMI; diabetes reports in first-degree family members (dichotomous); heavy ethanol consumption; cigarette smoking; elevated serum alanine aminotransferase/aspartate aminotransferase levels; nonalcoholic fatty liver; chronic viral hepatitis; cirrhosis; hand arthropathy; iron removed by phlebotomy; and positivity for HLA-A*01, B*08; A*03, B*07; and A*03, B*14 haplotypes. | 0.002638474 | 2015 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 20954257 | 3077 | HFE | umls:C0022408 | BeFree | An arthropathy considered typical for HH, involving metacarpophalangeal joints 2-5 and bilateral specified large joints, was observed in 10 of 41 patients with definite or probable HH (24%), all of whom were homozygous for the C282Y mutation in the HFE gene, while only 2 of 62 patients with possible/unlikely HH had such an arthropathy (P=0.0024). | 0.011368221 | 2011 | HFE | 6 | 26092913 | 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:4) | |||||||||
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| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0022408 | azithromycin | D017963 | 83905-01-5 | joint diseases | MESH:D007592 | marker/mechanism | 17366044 | ||
| C0022408 | methotrexate | D008727 | 1959/5/2 | joint diseases | MESH:D007592 | therapeutic | 17553349 | ||
| C0022408 | tacrolimus | D016559 | 109581-93-3 | joint diseases | MESH:D007592 | therapeutic | 14702166 | ||
| C0022408 | vancomycin | D014640 | 1404-90-6 | joint diseases | MESH:D007592 | therapeutic | 18334494 | ||
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.) | |