eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| candidiasis | ||||
| Disease ID | 752 |
|---|---|
| Disease | candidiasis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:17) C2707258 | infections C0442886 | secondary infection C0272412 | splenic abscess C0221505 | cerebral lesions C0156290 | prostatic abscess C0085932 | bullous dermatitis C0040053 | thrombosis C0031154 | peritonitis C0029166 | oral manifestations C0029118 | opportunistic infection C0026948 | mycosis fungoides C0022568 | keratitis C0020807 | pulmonary hemosiderosis C0019655 | histoplasmosis C0011636 | dermatophytosis C0008370 | bile duct obstruction C0008311 | cholangitis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:9) C0021311 | infections | 13 C0038358 | gastric ulcer | 2 C0019655 | histoplasmosis | 1 C0022667 | renal papillary necrosis | 1 C0029118 | opportunistic infection | 1 C0036690 | sepsis | 1 C0023885 | liver abscesses | 1 C0022568 | keratitis | 1 C0014868 | esophagitis | 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 |
| rs121434254 | 12050215 | 326 | AIRE | umls:C0006840 | BeFree | The only association between the phenotype and the AIRE genotype was the higher prevalence of candidiasis in the patients with the most common mutation, R257X, than in those with other mutations. | 0.128348685 | 2002 | AIRE | 21 | 44289773 | C | A,T |
| rs1800629 | 24557424 | 1672 | DEFB1 | umls:C0006840 | BeFree | Single-nucleotide polymorphisms in three innate immune genes were associated with development of a Candida corrected colonization index greater than or equal to 0.4 (Toll-like receptor rs4986790, hazard ratio = 3.39; 95% CI, 1.45-7.93; p = 0.005) or occurrence of intra-abdominal candidiasis (tumor necrosis factor-α rs1800629, hazard ratio = 4.31; 95% CI, 1.85-10.1; p= 0.0007; β-defensin 1 rs1800972, hazard ratio = 3.21; 95% CI, 1.36-7.59; p = 0.008). | 0.000271442 | 2014 | TNF | 6 | 31575254 | G | A |
| rs1800972 | 24557424 | 1672 | DEFB1 | umls:C0006840 | BeFree | Single-nucleotide polymorphisms in three innate immune genes were associated with development of a Candida corrected colonization index greater than or equal to 0.4 (Toll-like receptor rs4986790, hazard ratio = 3.39; 95% CI, 1.45-7.93; p = 0.005) or occurrence of intra-abdominal candidiasis (tumor necrosis factor-α rs1800629, hazard ratio = 4.31; 95% CI, 1.85-10.1; p= 0.0007; β-defensin 1 rs1800972, hazard ratio = 3.21; 95% CI, 1.36-7.59; p = 0.008). | 0.000271442 | 2014 | DEFB1 | 8 | 6877901 | C | G |
| rs4986790 | 24557424 | 1672 | DEFB1 | umls:C0006840 | BeFree | Single-nucleotide polymorphisms in three innate immune genes were associated with development of a Candida corrected colonization index greater than or equal to 0.4 (Toll-like receptor rs4986790, hazard ratio = 3.39; 95% CI, 1.45-7.93; p = 0.005) or occurrence of intra-abdominal candidiasis (tumor necrosis factor-α rs1800629, hazard ratio = 4.31; 95% CI, 1.85-10.1; p= 0.0007; β-defensin 1 rs1800972, hazard ratio = 3.21; 95% CI, 1.36-7.59; p = 0.008). | 0.000271442 | 2014 | TLR4 | 9 | 117713024 | A | G |
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 | 752 |
|---|---|
| Disease | candidiasis |
| Case | (Waiting for update.) |