ewing sarcoma |
Disease ID | 113 |
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Disease | ewing sarcoma |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0002664 | Neoplasia | 10 HP:0100242 | Sarcoma | 9 HP:0002669 | Osteosarcoma | 3 HP:0002859 | Rhabdomyosarcoma | 2 HP:0003006 | Neuroblastoma | 1 HP:0002202 | Pleural effusion | 1 HP:0007340 | Lower limb weakness | 1 HP:0003690 | Limb weakness | 1 HP:0002204 | Pulmonary embolism | 1 HP:0001369 | Arthritis | 1 HP:0002617 | Aneurysmal dilatation | 1 HP:0030731 | Carcinoma | 1 HP:0002357 | Dysphasia | 1 |
Disease ID | 113 |
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Disease | ewing sarcoma |
Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:6) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs224278 | 22327514 | 1959 | EGR2 | umls:C0553580 | GWASCAT | Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. | 0.242909916 | 2012 | EGR2 | 10 | 62820815 | C | T |
rs224278 | 22327514 | 1959 | EGR2 | umls:C0553580 | GAD | [Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.] | 0.242909916 | 2012 | EGR2 | 10 | 62820815 | C | T |
rs4924410 | 22327514 | 6727 | SRP14 | umls:C0553580 | GAD | [Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.] | 0.002367032 | 2012 | SRP14-AS1 | 15 | 40047293 | A | C |
rs4924410 | 22327514 | 100131089 | SRP14-AS1 | umls:C0553580 | GWASCAT | Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. | 0.12 | 2012 | SRP14-AS1 | 15 | 40047293 | A | C |
rs9430161 | 22327514 | 390996 | CFL1P6 | umls:C0553580 | GWASCAT | Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. | 0.12 | 2012 | NA | 1 | 10986798 | G | T |
rs9430161 | 22327514 | 148345 | C1orf127 | umls:C0553580 | GAD | [Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.] | 0.002367032 | 2012 | NA | 1 | 10986798 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:12) | |||||||||||||||||||||||||||||
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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 |
1 | 11032827 | rs2003046 | C | A | rs2003046 | 22327514 | 9.60E-07 | NA | NA | NA | Up to 427 European ancestry cases; up to 4,352 European ancestry controls | European(4779) | ALL(4779) | EUR(4779) | ALL(4779) | Ewing sarcoma | HPOID:0012254 | Ewing's sarcoma | DOID:3369 | peripheral primitive neuroectodermal tumor | D012512 | Sarcoma, Ewing | EFOID:0000174 | ewing sarcoma | Ewings sarcoma | NA | Research Support, Non-U.S. Gov't | C | C1orf127 |
1 | 11037736 | rs11576658 | C | T | rs11576658 | 22327514 | 9.20E-08 | NA | NA | NA | Up to 427 European ancestry cases; up to 4,352 European ancestry controls | European(4779) | ALL(4779) | EUR(4779) | ALL(4779) | Ewing sarcoma | HPOID:0012254 | Ewing's sarcoma | DOID:3369 | peripheral primitive neuroectodermal tumor | D012512 | Sarcoma, Ewing | EFOID:0000174 | ewing sarcoma | Ewings sarcoma | NA | Research Support, Non-U.S. Gov't | C | C1orf127 |
1 | 11046855 | rs9430161 | G | T | rs9430161 | 22327514 | 1.00E-20 | NA | 2.2 | [1.77-2.72] | Up to 427 European ancestry cases; up to 4,352 European ancestry controls | European(4779) | ALL(4779) | EUR(4779) | ALL(4779) | Ewing sarcoma | HPOID:0012254 | Ewing's sarcoma | DOID:3369 | peripheral primitive neuroectodermal tumor | D012512 | Sarcoma, Ewing | EFOID:0000174 | ewing sarcoma | Ewings sarcoma | rs9430161-G | Research Support, Non-U.S. Gov't | T | NA |
10 | 64552607 | rs1509966 | G | A | rs1509966 | 22327514 | 1.30E-05 | NA | NA | NA | Up to 427 European ancestry cases; up to 4,352 European ancestry controls | European(4779) | ALL(4779) | EUR(4779) | ALL(4779) | Ewing sarcoma | HPOID:0012254 | Ewing's sarcoma | DOID:3369 | peripheral primitive neuroectodermal tumor | D012512 | Sarcoma, Ewing | EFOID:0000174 | ewing sarcoma | Ewings sarcoma | NA | Research Support, Non-U.S. Gov't | G | NA |
10 | 64552934 | rs1848797 | A | G | rs1848797 | 22327514 | 2.10E-05 | NA | NA | NA | Up to 427 European ancestry cases; up to 4,352 European ancestry controls | European(4779) | ALL(4779) | EUR(4779) | ALL(4779) | Ewing sarcoma | HPOID:0012254 | Ewing's sarcoma | DOID:3369 | peripheral primitive neuroectodermal tumor | D012512 | Sarcoma, Ewing | EFOID:0000174 | ewing sarcoma | Ewings sarcoma | NA | Research Support, Non-U.S. Gov't | A | NA |
10 | 64580575 | rs224278 | C | T | rs224278 | 22327514 | 4.00E-17 | NA | 1.66 | [1.42-1.93] | Up to 427 European ancestry cases; up to 4,352 European ancestry controls | European(4779) | ALL(4779) | EUR(4779) | ALL(4779) | Ewing sarcoma | HPOID:0012254 | Ewing's sarcoma | DOID:3369 | peripheral primitive neuroectodermal tumor | D012512 | Sarcoma, Ewing | EFOID:0000174 | ewing sarcoma | Ewings sarcoma | rs224278-C | Research Support, Non-U.S. Gov't | C | EGR2 |
10 | 64588424 | rs224292 | G | A | rs224292 | 22327514 | 8.60E-06 | NA | NA | NA | Up to 427 European ancestry cases; up to 4,352 European ancestry controls | European(4779) | ALL(4779) | EUR(4779) | ALL(4779) | Ewing sarcoma | HPOID:0012254 | Ewing's sarcoma | DOID:3369 | peripheral primitive neuroectodermal tumor | D012512 | Sarcoma, Ewing | EFOID:0000174 | ewing sarcoma | Ewings sarcoma | NA | Research Support, Non-U.S. Gov't | G | NA |
10 | 64647504 | rs9633562 | A | C | rs9633562 | 22327514 | 2.00E-06 | NA | NA | NA | Up to 427 European ancestry cases; up to 4,352 European ancestry controls | European(4779) | ALL(4779) | EUR(4779) | ALL(4779) | Ewing sarcoma | HPOID:0012254 | Ewing's sarcoma | DOID:3369 | peripheral primitive neuroectodermal tumor | D012512 | Sarcoma, Ewing | EFOID:0000174 | ewing sarcoma | Ewings sarcoma | NA | Research Support, Non-U.S. Gov't | A | NA |
10 | 64676376 | rs944684 | C | T | rs944684 | 22327514 | 8.00E-07 | NA | NA | NA | Up to 427 European ancestry cases; up to 4,352 European ancestry controls | European(4779) | ALL(4779) | EUR(4779) | ALL(4779) | Ewing sarcoma | HPOID:0012254 | Ewing's sarcoma | DOID:3369 | peripheral primitive neuroectodermal tumor | D012512 | Sarcoma, Ewing | EFOID:0000174 | ewing sarcoma | Ewings sarcoma | NA | Research Support, Non-U.S. Gov't | T | NA |
10 | 64745865 | rs6479860 | C | T | rs6479860 | 22327514 | 1.10E-05 | NA | NA | NA | Up to 427 European ancestry cases; up to 4,352 European ancestry controls | European(4779) | ALL(4779) | EUR(4779) | ALL(4779) | Ewing sarcoma | HPOID:0012254 | Ewing's sarcoma | DOID:3369 | peripheral primitive neuroectodermal tumor | D012512 | Sarcoma, Ewing | EFOID:0000174 | ewing sarcoma | Ewings sarcoma | NA | Research Support, Non-U.S. Gov't | T | NA |
15 | 40338861 | rs8026641 | G | A | rs8026641 | 22327514 | 3.90E-09 | NA | NA | NA | Up to 427 European ancestry cases; up to 4,352 European ancestry controls | European(4779) | ALL(4779) | EUR(4779) | ALL(4779) | Ewing sarcoma | HPOID:0012254 | Ewing's sarcoma | DOID:3369 | peripheral primitive neuroectodermal tumor | D012512 | Sarcoma, Ewing | EFOID:0000174 | ewing sarcoma | Ewings sarcoma | NA | Research Support, Non-U.S. Gov't | A | LOC100131089 |
15 | 40339494 | rs4924410 | A | C | rs4924410 | 22327514 | 7.00E-09 | NA | 1.46 | [1.23-1.74] | Up to 427 European ancestry cases; up to 4,352 European ancestry controls | European(4779) | ALL(4779) | EUR(4779) | ALL(4779) | Ewing sarcoma | HPOID:0012254 | Ewing's sarcoma | DOID:3369 | peripheral primitive neuroectodermal tumor | D012512 | Sarcoma, Ewing | EFOID:0000174 | ewing sarcoma | Ewings sarcoma | rs4924410-A | Research Support, Non-U.S. Gov't | C | LOC100131089 |
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:11) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0553580 | arsenic trioxide | C006632 | 1327-53-3 | sarcoma, ewing | MESH:D012512 | therapeutic | 16646077 | ||
C0553580 | busulfan | D002066 | 55-98-1 | sarcoma, ewing | MESH:D012512 | therapeutic | 14595385 | ||
C0553580 | caffeine | D002110 | 1958/8/2 | sarcoma, ewing | MESH:D012512 | therapeutic | 15675594 | ||
C0553580 | cyclophosphamide | D003520 | 50-18-0 | sarcoma, ewing | MESH:D012512 | therapeutic | 11772151 | ||
C0553580 | cisplatin | D002945 | 15663-27-1 | sarcoma, ewing | MESH:D012512 | therapeutic | 14601052 | ||
C0553580 | ifosfamide | D007069 | 3778-73-2 | sarcoma, ewing | MESH:D012512 | therapeutic | 11772151 | ||
C0553580 | melphalan | D008558 | 148-82-3 | sarcoma, ewing | MESH:D012512 | therapeutic | 14595385 | ||
C0553580 | mesna | D015080 | 19767-45-4 | sarcoma, ewing | MESH:D012512 | therapeutic | 3690810 | ||
C0553580 | vincristine | D014750 | - | sarcoma, ewing | MESH:D012512 | therapeutic | 3690810 | ||
C0553580 | vindesine | D014751 | 53643-48-4 | sarcoma, ewing | MESH:D012512 | therapeutic | 455265 | ||
C0553580 | zoledronic acid | C088658 | - | sarcoma, ewing | MESH:D012512 | therapeutic | 16121404 |
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.) |