PedAM
Pediatric Disease Annotations & Medicines
| giant cell tumor | ||||
| Disease ID | 1456 |
|---|---|
| Disease | giant cell tumor |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0002664 | Neoplasia | 6 HP:0030731 | Carcinoma | 4 HP:0002756 | Pathologic fracture | 3 HP:0012062 | Bone cysts | 3 HP:0012063 | Aneurysmal bone cyst | 3 HP:0012531 | Pain | 2 HP:0008200 | Primary hyperparathyroidism | 2 HP:0100242 | Sarcoma | 2 HP:0002797 | Increased bone resorption | 2 HP:0001289 | Confusion | 1 HP:0005584 | Renal cell carcinoma | 1 HP:0000843 | Hyperparathyroidism | 1 HP:0006766 | Papillary renal cell carcinoma | 1 HP:0002835 | Aspiration | 1 |
| Disease ID | 1456 |
|---|---|
| Disease | giant cell tumor |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C1608408 | malignant transformation | 3 C0333516 | tumor necrosis | 1 C0153676 | pulmonary metastases | 1 C0238790 | bone destruction | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 24720374 | 673 | BRAF | umls:C0017525 | BeFree | Histiocytic sarcoma exhibited the highest rate of BRAF(V600E) (62.5%, five of eight), followed by Langerhans cell tumours (25%, seven of 28), FDC sarcoma (18.5%, five of 27) and giant cell tumour (6.7%, two of 30). | 0.000271442 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
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:0) | |
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| (Waiting for update.) | |
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.) | |