sarcoma |
Disease ID | 529 |
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Disease | sarcoma |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:16) C0009450 | infection | 33 C0030193 | pain | 6 C0153676 | lung metastases | 5 C0153690 | bone metastases | 5 C0153676 | lung metastasis | 5 C0153676 | pulmonary metastases | 2 C0153676 | pulmonary metastasis | 2 C0220650 | brain metastasis | 2 C0494165 | liver metastases | 1 C0040053 | thrombosis | 1 C0019080 | hemorrhage | 1 C0017636 | glioblastoma | 1 C0002991 | sclerosing hemangiomas | 1 C0000889 | acanthosis nigricans | 1 C1332128 | peritoneal carcinomatosis | 1 C0220650 | brain metastases | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:20) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs1042522 | 22205265 | 7157 | TP53 | umls:C1261473 | BeFree | The functional MDM2 T309G genetic variant but not P53 Arg72Pro polymorphism is associated with risk of sarcomas: a meta-analysis. | 0.400032709 | 2012 | TP53 | 17 | 7676154 | G | T,C |
rs1042522 | 22205265 | 4193 | MDM2 | umls:C1261473 | BeFree | The functional MDM2 T309G genetic variant but not P53 Arg72Pro polymorphism is associated with risk of sarcomas: a meta-analysis. | 0.038322962 | 2012 | TP53 | 17 | 7676154 | G | T,C |
rs104886003 | NA | 5290 | PIK3CA | umls:C1261473 | CLINVAR | NA | 0.241357209 | NA | PIK3CA | 3 | 179218303 | G | A |
rs113488022 | 21326296 | 673 | BRAF | umls:C1261473 | BeFree | Frequent somatic mutations of BRAF (v-raf murine sarcoma viral oncogene homolog B) exon T1799A, which are implicated in the initial events of promutagenic cellular proliferation, are detected in both malignant melanomas (MM) and melanocytic nevi (MN). | 0.003800186 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
rs113488022 | 23909652 | 673 | BRAF | umls:C1261473 | BeFree | Vemurafenib, a selective BRAF (v-raf murine sarcoma viral oncogene homologue B1) kinase inhibitor, is a new targeted biotherapy that improves survival in patients with metastatic melanomas harbouring the BRAF V600E mutation. | 0.003800186 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
rs113488022 | 21430505 | 673 | BRAF | umls:C1261473 | BeFree | To explore the mutation frequencies of BRAF(V600E) (V-raf murine sarcoma virus oncogene homolog B1) and NRAS (neuroblastoma ras viral oncogene homolog) codon 61 in CMNs of Chinese, we selected 55 paraffin-embedded tissue blocks, including 37 cases of medium CMNs (1.5-20cm) and 18 cases of giant CMNs (>20 cm). | 0.003800186 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
rs113488022 | 25039578 | 673 | BRAF | umls:C1261473 | BeFree | BRAF (v-raf murine sarcoma viral oncogene homologue B) V600E mutations have been detected with high frequency in melanocytic naevi. | 0.003800186 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
rs113488022 | 24527759 | 673 | BRAF | umls:C1261473 | BeFree | In many ERK1/2-dependent tumour cell lines, inhibition of BRAF(V600E) (v-raf murine sarcoma viral oncogene homologue B1, V600E mutation) or MEK1/2 (mitogen-activated protein kinase/ERK kinase 1/2) had very little effect on BIK expression, whereas BIM(EL) was strongly up-regulated. | 0.003800186 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
rs113488022 | 16691193 | 673 | BRAF | umls:C1261473 | BeFree | To investigate whether the frequency of the BRAF(V600E) (V-raf murine sarcoma virus oncogene homolog B1) mutation in melanocytic nevi is associated with sun exposure patterns, we examined 120 acquired melanocytic nevi excised from various anatomic sites, including glabrous skin, as well as 62 congenital nevi. | 0.003800186 | 2006 | BRAF | 7 | 140753336 | A | T,G,C |
rs113488022 | 24720374 | 673 | BRAF | umls:C1261473 | 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). | 0.003800186 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
rs113488022 | 24117833 | 673 | BRAF | umls:C1261473 | BeFree | One melanoma-sarcoma pair showed identical BRAF V600E mutations. | 0.003800186 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
rs11540652 | NA | 7157 | TP53 | umls:C1261473 | CLINVAR | NA | 0.400032709 | NA | TP53 | 17 | 7674220 | C | T |
rs11540654 | 22205265 | 4193 | MDM2 | umls:C1261473 | BeFree | The functional MDM2 T309G genetic variant but not P53 Arg72Pro polymorphism is associated with risk of sarcomas: a meta-analysis. | 0.038322962 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
rs11540654 | 22205265 | 7157 | TP53 | umls:C1261473 | BeFree | The functional MDM2 T309G genetic variant but not P53 Arg72Pro polymorphism is associated with risk of sarcomas: a meta-analysis. | 0.400032709 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
rs121913254 | 23382236 | 6035 | RNASE1 | umls:C1261473 | BeFree | We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant proteins. | 0.000814326 | 2013 | NRAS | 1 | 114713909 | G | T,C |
rs121913254 | 23382236 | 4893 | NRAS | umls:C1261473 | BeFree | We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant proteins. | 0.002909916 | 2013 | NRAS | 1 | 114713909 | G | T,C |
rs121913254 | 23382236 | 5879 | RAC1 | umls:C1261473 | BeFree | We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant proteins. | 0.000814326 | 2013 | NRAS | 1 | 114713909 | G | T,C |
rs1346044 | 18271933 | 7486 | WRN | umls:C1261473 | BeFree | Association of a missense single nucleotide polymorphism, Cys1367Arg of the WRN gene, with the risk of bone and soft tissue sarcomas in Japan. | 0.005634266 | 2008 | WRN;LOC105379359 | 8 | 31167138 | T | C |
rs17655 | 16646069 | 2073 | ERCC5 | umls:C1261473 | BeFree | Our results raise the potential implication of the XPG Asp1104His polymorphism in the occurrence of chromosomal translocations associated with specific subtypes of sarcomas. | 0.005634266 | 2006 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
rs188957694 | 16166291 | 2099 | ESR1 | umls:C1261473 | BeFree | The majority of spontaneous and DMBA-induced carcinomas and sarcomas from p53(R270H/+)WAPCre mice is estrogen receptor alpha positive, and expression profiles of genes also implicated in human breast cancer appear similarly altered. | 0.000542884 | 2005 | ESR1 | 6 | 151944218 | G | A |
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:16) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C1261473 | azacitidine | D001374 | 320-67-2 | sarcoma | MESH:D012509 | marker/mechanism | 2408741 | ||
C1261473 | caffeine | D002110 | 1958/8/2 | sarcoma | MESH:D012509 | therapeutic | 10928167 | ||
C1261473 | cyclophosphamide | D003520 | 50-18-0 | sarcoma | MESH:D012509 | therapeutic | 15205092 | ||
C1261473 | cisplatin | D002945 | 15663-27-1 | sarcoma | MESH:D012509 | therapeutic | 10928167 | ||
C1261473 | epirubicin | D015251 | 56420-45-2 | sarcoma | MESH:D012509 | therapeutic | 16205946 | ||
C1261473 | fluorouracil | D005472 | 51-21-8 | sarcoma | MESH:D012509 | therapeutic | 6603024 | ||
C1261473 | leucovorin | D002955 | 1958/5/9 | sarcoma | MESH:D012509 | therapeutic | 6603024 | ||
C1261473 | ifosfamide | D007069 | 3778-73-2 | sarcoma | MESH:D012509 | therapeutic | 10473106 | ||
C1261473 | lovastatin | D008148 | 75330-75-5 | sarcoma | MESH:D012509 | therapeutic | 10815931 | ||
C1261473 | medroxyprogesterone acetate | D017258 | 71-58-9 | sarcoma | MESH:D012509 | therapeutic | 2947675 | ||
C1261473 | mesna | D015080 | 19767-45-4 | sarcoma | MESH:D012509 | therapeutic | 2858016 | ||
C1261473 | methotrexate | D008727 | 1959/5/2 | sarcoma | MESH:D012509 | therapeutic | 3047339 | ||
C1261473 | paclitaxel | D017239 | - | sarcoma | MESH:D012509 | therapeutic | 18074150 | ||
C1261473 | streptozocin | D013311 | 18883-66-4 | sarcoma | MESH:D012509 | therapeutic | 135666 | ||
C1261473 | trabectedin | C099150 | 114899-77-3 | sarcoma | MESH:D012509 | therapeutic | 19238326 | ||
C1261473 | vindesine | D014751 | 53643-48-4 | sarcoma | MESH:D012509 | therapeutic | 7438126 |
FDA approved drug and dosage information(Total Drugs:1) | ||||||||
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DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
MESH:D012509 | mevacor | lovastatin | 10MG Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons | TABLET;ORAL | Discontinued | None | Yes | No |
FDA labeling changes(Total Drugs:1) | |||||||||||||
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DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
MESH:D012509 | 02/14/2002 | mevacor | lovastatin | Heterozygous Familial Hypercholesterolemia | New indication in adolescent boys and girls (at least one year post-menarche) 10-17 years of age | Labeling | B | - | - | - | Merck | 07/17/2001 | FALSE' |