PedAM
Pediatric Disease Annotations & Medicines
| neurofibrosarcoma | ||||
| Disease ID | 1614 |
|---|---|
| Disease | neurofibrosarcoma |
| Definition | A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with NEUROFIBROMATOSIS 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72) |
| Synonym | neurofibrosarcoma [disease/finding] neurofibrosarcoma [obs] neurofibrosarcomas neurogenic sarcoma neurogenic sarcoma [obs] neurogenic sarcomas neurosarcoma neurosarcoma [obs] neurosarcomas sarcoma, neurogenic sarcomas, neurogenic |
| DOID | |
| UMLS | C0206729 |
| MeSH | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:31) 4830 | NME1 | DISEASES 1048 | CEACAM5 | DISEASES 1440 | CSF3 | DISEASES 5539 | PPY | DISEASES 4254 | KITLG | DISEASES 821 | CANX | DISEASES 9253 | NUMBL | DISEASES 25759 | SHC2 | DISEASES 7067 | THRA | DISEASES 64374 | SIL1 | DISEASES 2065 | ERBB3 | DISEASES 2041 | EPHA1 | DISEASES 3145 | HMBS | DISEASES 4613 | MYCN | DISEASES 1633 | DCK | DISEASES 6750 | SST | DISEASES 6271 | S100A1 | DISEASES 998 | CDC42 | DISEASES 149830 | PRNT | DISEASES 4601 | MXI1 | DISEASES 2242 | FES | DISEASES 4771 | NF2 | DISEASES 4763 | NF1 | DISEASES 3645 | INSRR | DISEASES 4893 | NRAS | DISEASES 2268 | FGR | DISEASES 2235 | FECH | DISEASES 7520 | XRCC5 | DISEASES 4099 | MAG | DISEASES 3609 | ILF3 | DISEASES 4782 | NFIC | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1614 |
|---|---|
| Disease | neurofibrosarcoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1614 |
|---|---|
| Disease | neurofibrosarcoma |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
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 |
| rs137852604 | NA | 4601 | MXI1 | umls:C0206729 | CLINVAR | NA | 0.120271442 | NA | MXI1 | 10 | 110228276 | 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.) |
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.) | |