PedAM
Pediatric Disease Annotations & Medicines
| visceral leishmaniasis | ||||
| Disease ID | 504 |
|---|---|
| Disease | visceral leishmaniasis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:12) C0009450 | infection | 15 C0024291 | hemophagocytic lymphohistiocytosis | 4 C0021079 | immunosuppression | 2 C0796095 | c syndrome | 2 C0024291 | hemophagocytic syndrome | 2 C0017658 | glomerulonephritis | 1 C0023283 | cutaneous leishmaniasis | 1 C0021311 | infections | 1 C0019693 | hiv infection | 1 C0019158 | hepatitis | 1 C0030312 | pancytopenia | 1 C0003873 | rheumatoid arthritis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs187238 | 25405235 | 26768 | SNORA73B | umls:C0023290 | BeFree | Three single nucleotide polymorphisms (SNPs), rs1946519 (-656 G/T) and rs187238 (-137 G/C) in the promoter region and rs549908 (+105 A/C) in the codon region, were genotyped in 204 parasitological confirmed VL patients and 267 controls with no past history of VL. | 0.000271442 | 2014 | IL18 | 11 | 112164265 | C | G |
| rs1946519 | 25405235 | 26768 | SNORA73B | umls:C0023290 | BeFree | Three single nucleotide polymorphisms (SNPs), rs1946519 (-656 G/T) and rs187238 (-137 G/C) in the promoter region and rs549908 (+105 A/C) in the codon region, were genotyped in 204 parasitological confirmed VL patients and 267 controls with no past history of VL. | 0.000271442 | 2014 | IL18 | 11 | 112164784 | A | C |
| rs2103816 | 22561395 | 84498 | FAM120B | umls:C0023290 | BeFree | Logistic regression analysis under an additive model showed association between VL and variants at DLL1 and FAM120B, with top associations (rs9460106, OR=1.17, 95%CI 1.01-1.35, P=0.033; rs2103816, OR=1.16, 95%CI 1.01-1.34, P=0.039) robust to analysis using caste as a covariate to take account of population substructure. | 0.000271442 | 2012 | FAM120B;LOC105378156 | 6 | 170366925 | T | A |
| rs2276631 | 25603101 | 6556 | SLC11A1 | umls:C0023290 | BeFree | Alleles rs2276631-C (P = 0.02; OR [95%CI] = 2.11 [1.16-3.86]) and rs2279015-G (P = 0.005; OR [95%CI] = 2.42 [1.33-4.41]) of SLC11A1, were associated with susceptibility to VL, whereas genotypes rs2276631 C/C (P = 0.003; OR [95%CI] = 2.65 [1.41-5.00]) and rs2279015 G/G (P = 0.018; OR [95%CI] = 2.05 [1.15-3.64]) were significantly increased in CL and VL patients, respectively. | 0.127262917 | 2015 | SLC11A1 | 2 | 218384290 | C | T |
| rs2279015 | 25603101 | 6556 | SLC11A1 | umls:C0023290 | BeFree | Alleles rs2276631-C (P = 0.02; OR [95%CI] = 2.11 [1.16-3.86]) and rs2279015-G (P = 0.005; OR [95%CI] = 2.42 [1.33-4.41]) of SLC11A1, were associated with susceptibility to VL, whereas genotypes rs2276631 C/C (P = 0.003; OR [95%CI] = 2.65 [1.41-5.00]) and rs2279015 G/G (P = 0.018; OR [95%CI] = 2.05 [1.15-3.64]) were significantly increased in CL and VL patients, respectively. | 0.127262917 | 2015 | SLC11A1 | 2 | 218394547 | G | A |
| rs549908 | 25405235 | 26768 | SNORA73B | umls:C0023290 | BeFree | Three single nucleotide polymorphisms (SNPs), rs1946519 (-656 G/T) and rs187238 (-137 G/C) in the promoter region and rs549908 (+105 A/C) in the codon region, were genotyped in 204 parasitological confirmed VL patients and 267 controls with no past history of VL. | 0.000271442 | 2014 | IL18 | 11 | 112150193 | T | A,G |
| rs9460106 | 22561395 | 84498 | FAM120B | umls:C0023290 | BeFree | Logistic regression analysis under an additive model showed association between VL and variants at DLL1 and FAM120B, with top associations (rs9460106, OR=1.17, 95%CI 1.01-1.35, P=0.033; rs2103816, OR=1.16, 95%CI 1.01-1.34, P=0.039) robust to analysis using caste as a covariate to take account of population substructure. | 0.000271442 | 2012 | DLL1;FAM120B | 6 | 170306872 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:1) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 6 | 32595223 | rs9271858 | A | G | rs9271858 | 23291585 | 3.00E-17 | NA | 1.41 | [1.30-1.52] | 889 Indian ancestry cases; 977 Indian ancestry controls; 357 Brazilian ancestry cases; and 1,615 Brazilian ancestry unaffected relatives | Indian(1866) | Brazilian(1972) | ALL(3838) | OTHER(1972) | SAN(1866) | ALL(3838) | Leishmaniasis (visceral) | HPOID:0002725 | HPOID:0001370 | Systemic lupus erythematosus | Rheumatoid arthritis | DOID:9146 | visceral leishmaniasis | D007898 | Leishmaniasis, Visceral | EFOID:0005045 | visceral Leishmaniasis | Protozoan infection |
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) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0023290 | allopurinol | D000493 | 315-30-0 | leishmaniasis, visceral | MESH:D007898 | therapeutic | 10449224 | ||
| C0023290 | liposomal amphotericin b | C068538 | - | leishmaniasis, visceral | MESH:D007898 | therapeutic | 10327996 | ||
| C0023290 | miltefosine | C039128 | - | leishmaniasis, visceral | MESH:D007898 | therapeutic | 11035738 | ||
| C0023290 | thalidomide | D013792 | 50-35-1 | leishmaniasis, visceral | MESH:D007898 | therapeutic | 16514283 | ||
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.) | |