eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| spondyloarthropathy | ||||
| Disease ID | 792 |
|---|---|
| Disease | spondyloarthropathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:19) C2678504 | osteoporosis C2364051 | fatigue C1963266 | uveitis C1565489 | renal insufficiency C1282952 | enthesitis C0574960 | sacroiliitis C0410130 | retrocalcaneal bursitis C0263933 | achilles tendinitis C0263442 | acne conglobata C0239161 | dactylitis C0238067 | collagenous colitis C0152031 | swollen joints C0039103 | synovitis C0029400 | osteitis C0010346 | crohn's disease C0007570 | coeliac disease C0003864 | inflammatory arthritis C0003708 | arachnoiditis C0003090 | ankylosis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C0574960 | sacroiliitis | 7 C1282952 | enthesitis | 4 C0042164 | uveitis | 4 C0021831 | bowel disease | 2 C0010346 | crohn's disease | 2 C0039103 | synovitis | 1 C0015672 | fatigue | 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:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10050860 | 22896742 | 907 | CCT | umls:C0949690 | BeFree | The rs17482078/rs10050860/rs30187-CCT haplotype was significantly associated with increased risk of SpA in both cohorts (P(combined)= 9.08×10(-4)), including AS and non-AS (P(combined)=6.16×10(-4) and P(combined)=0.049, respectively), whereas the -TTC haplotype was associated with reduced risk of SpA, including AS and non-AS (P(combined)=2.36×10(-7), P(combined)= 5.69×10(-6) and P(combined)= 2.13×10(-4), respectively). | 0.000271442 | 2013 | ERAP1 | 5 | 96786506 | C | T |
| rs11209026 | 23818276 | 149233 | IL23R | umls:C0949690 | BeFree | Brief report: the IL23R nonsynonymous polymorphism rs11209026 is associated with radiographic sacroiliitis in spondyloarthritis. | 0.000542884 | 2013 | IL23R | 1 | 67240275 | G | A |
| rs17482078 | 22896742 | 907 | CCT | umls:C0949690 | BeFree | The rs17482078/rs10050860/rs30187-CCT haplotype was significantly associated with increased risk of SpA in both cohorts (P(combined)= 9.08×10(-4)), including AS and non-AS (P(combined)=6.16×10(-4) and P(combined)=0.049, respectively), whereas the -TTC haplotype was associated with reduced risk of SpA, including AS and non-AS (P(combined)=2.36×10(-7), P(combined)= 5.69×10(-6) and P(combined)= 2.13×10(-4), respectively). | 0.000271442 | 2013 | ERAP1;LOC102724748 | 5 | 96783162 | C | G,T |
| rs1894399 | 22312160 | 84639 | IL1F10 | umls:C0949690 | BeFree | The case-control study revealed an association between another IL1A variant (rs1894399) and AS (p=0.035), and between IL1F10.3 (rs3811058) and spondyloarthritis (p=0.041). | 0.000271442 | 2012 | IL1A | 2 | 112782600 | C | T |
| rs30187 | 22896742 | 907 | CCT | umls:C0949690 | BeFree | The rs17482078/rs10050860/rs30187-CCT haplotype was significantly associated with increased risk of SpA in both cohorts (P(combined)= 9.08×10(-4)), including AS and non-AS (P(combined)=6.16×10(-4) and P(combined)=0.049, respectively), whereas the -TTC haplotype was associated with reduced risk of SpA, including AS and non-AS (P(combined)=2.36×10(-7), P(combined)= 5.69×10(-6) and P(combined)= 2.13×10(-4), respectively). | 0.000271442 | 2013 | ERAP1 | 5 | 96788627 | T | C |
| rs3811058 | 22312160 | 84639 | IL1F10 | umls:C0949690 | BeFree | The case-control study revealed an association between another IL1A variant (rs1894399) and AS (p=0.035), and between IL1F10.3 (rs3811058) and spondyloarthritis (p=0.041). | 0.000271442 | 2012 | IL1F10 | 2 | 113074368 | T | A,C |
| rs386502799 | 18073264 | 114609 | TIRAP | umls:C0949690 | BeFree | This study did not show significant associations of SNP S180L of the TLR2/4 adaptor protein TIRAP with axial SpA. | 0.000271442 | 2008 | NA | NA | NA | NA | NA |
| rs386502799 | 18073264 | 7097 | TLR2 | umls:C0949690 | BeFree | This study did not show significant associations of SNP S180L of the TLR2/4 adaptor protein TIRAP with axial SpA. | 0.000271442 | 2008 | NA | NA | NA | NA | NA |
| rs8177374 | 18073264 | 114609 | TIRAP | umls:C0949690 | BeFree | This study did not show significant associations of SNP S180L of the TLR2/4 adaptor protein TIRAP with axial SpA. | 0.000271442 | 2008 | TIRAP | 11 | 126292948 | C | T |
| rs8177374 | 18073264 | 7097 | TLR2 | umls:C0949690 | BeFree | This study did not show significant associations of SNP S180L of the TLR2/4 adaptor protein TIRAP with axial SpA. | 0.000271442 | 2008 | TIRAP | 11 | 126292948 | C | T |
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 | 792 |
|---|---|
| Disease | spondyloarthropathy |
| Case | (Waiting for update.) |