PedAM
Pediatric Disease Annotations & Medicines
| kaposi sarcoma | ||||
| Disease ID | 34 |
|---|---|
| Disease | kaposi sarcoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:13) C1619738 | immune reconstitution inflammatory syndrome C0748159 | pulmonary involvement C0333243 | pitting edema C0221383 | phlegmonous gastritis C0079731 | b-cell non-hodgkin's lymphoma C0037284 | skin lesion C0026764 | multiple myeloma C0021832 | intestinal parasites C0020758 | ichthyosis C0020437 | hypercalcemia C0017575 | necrotizing gingivitis C0005398 | extrahepatic cholestasis C0004623 | bacterial infections |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:12) C0009450 | infection | 16 C0019693 | hiv infection | 3 C1619738 | immune reconstitution inflammatory syndrome | 2 C0024305 | non-hodgkin lymphoma | 2 C0024299 | lymphomas | 2 C0001175 | acquired immunodeficiency syndrome | 2 C0748159 | pulmonary involvement | 1 C1334815 | multicentric castleman's disease | 1 C0037284 | skin lesions | 1 C0079731 | b-cell lymphoma | 1 C0017531 | castleman's disease | 1 C0030805 | bullous pemphigoid | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1800795 | 15154666 | 3569 | IL6 | umls:C0036220 | GAD | [In addition to the HHV-8 infection, the interleukin-6 promoter polymorphism G-174C is associated with a risk of development of KS in renal transplant recipients.] | 0.130172833 | 2004 | IL6;LOC541472 | 7 | 22727026 | C | G |
| rs200895370 | 24522099 | 84634 | KISS1R | umls:C0036220 | BeFree | Two rare heterozygous variants (c.442C>T (p.Arg148Trp) and c.1421G>A (p.Arg474Gln)) in SEMA7A were found in one male nHH patient with a previously identified KISS1R nonsense variant and one male KS patient with a previously identified mutation in KAL1, respectively. | 0.000271442 | 2013 | SEMA7A | 15 | 74417900 | G | A |
| rs200895370 | 24522099 | 3730 | KAL1 | umls:C0036220 | BeFree | Two rare heterozygous variants (c.442C>T (p.Arg148Trp) and c.1421G>A (p.Arg474Gln)) in SEMA7A were found in one male nHH patient with a previously identified KISS1R nonsense variant and one male KS patient with a previously identified mutation in KAL1, respectively. | 0.000271442 | 2013 | SEMA7A | 15 | 74417900 | G | A |
| rs200895370 | 24522099 | 8482 | SEMA7A | umls:C0036220 | BeFree | Two rare heterozygous variants (c.442C>T (p.Arg148Trp) and c.1421G>A (p.Arg474Gln)) in SEMA7A were found in one male nHH patient with a previously identified KISS1R nonsense variant and one male KS patient with a previously identified mutation in KAL1, respectively. | 0.000271442 | 2013 | SEMA7A | 15 | 74417900 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010701 | Abnormal immunoglobulin level | MP:0002968 | increased circulating alkaline phosphatase level;HP:0007440 | Generalized hyperpigmentation |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002716 | Lymphadenopathy | MP:0002420 | abnormal adaptive immunity;HP:0001182 | Tapered finger |
Chemical(Total Drugs:6) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0036220 | bleomycin | D001761 | 11056-06-7 | sarcoma, kaposi | MESH:D012514 | therapeutic | 1377296 | ||
| C0036220 | temozolomide | C047246 | 85622-93-1 | sarcoma, kaposi | MESH:D012514 | marker/mechanism | 16757971 | ||
| C0036220 | thalidomide | D013792 | 50-35-1 | sarcoma, kaposi | MESH:D012514 | therapeutic | 11905508 | ||
| C0036220 | vinblastine | D014747 | 865-21-4 | sarcoma, kaposi | MESH:D012514 | therapeutic | 9415644 | ||
| C0036220 | vincristine | D014750 | - | sarcoma, kaposi | MESH:D012514 | therapeutic | 1377296 | ||
| C0036220 | zidovudine | D015215 | 30516-87-1 | sarcoma, kaposi | MESH:D012514 | therapeutic | 7534090 | ||
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.) | |