eosinophilia |
Disease ID | 873 |
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Disease | eosinophilia |
Manually Symptom | UMLS | Name(Total Manually Symptoms:57) C2697391 | rheumatoid arthritis C2364118 | weakness C1963274 | vasculitis C1963178 | myelitis C1963084 | colitis C1961102 | lymphoblastic lymphoma C1961102 | acute lymphoblastic leukemia C1801950 | g syndrome C1546654 | granuloma C0947961 | atopic disorders C0796110 | w syndrome C0752303 | urological manifestations C0699791 | gastric carcinoma C0684249 | lung cancer C0520463 | chronic active hepatitis C0497156 | lymphadenopathy C0334463 | malignant fibrous histiocytoma C0264666 | endomyocardial disease C0262988 | cutaneous vasculitis C0238462 | medullary thyroid carcinoma C0235896 | pulmonary infiltration C0235896 | pulmonary infiltrates C0221013 | systemic mastocytosis C0221013 | systemic mast cell disease C0155686 | acute myocarditis C0152013 | adenocarcinoma of the lung C0085669 | acute leukemia C0079731 | b-cell lymphoma C0040053 | thrombosis C0039070 | syncope C0037284 | skin lesions C0037274 | skin disease C0034150 | purpura C0030499 | parasitic diseases C0027022 | myeloproliferative disorder C0027022 | myeloid neoplasm C0026986 | myelodysplastic syndrome C0026848 | muscle disorders C0026764 | plasma cell myeloma C0024305 | non-hodgkin's lymphoma C0024115 | lung diseases C0023493 | adult t cell leukemia C0023467 | acute myeloid leukemia C0023467 | acute myelogenous leukaemia C0023449 | acute lymphocytic leukemia (all) C0022660 | acute renal failure C0019618 | histiocytosis C0019214 | hepatosplenomegaly C0018916 | hemangioma C0015230 | skin rash C0013604 | oedema C0010073 | coronary vasospasm C0010073 | coronary artery spasm C0009324 | ulcerative colitis C0005424 | biliary tract disease C0002963 | variant angina C0002940 | aneurysms |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:24) C0027022 | myeloid neoplasm | 15 C0018188 | granuloma | 11 C0042384 | vasculitis | 8 C0235896 | pulmonary infiltrates | 8 C0023467 | acute myeloid leukemia | 5 C0018916 | hemangioma | 4 C0023449 | acute lymphoblastic leukemia | 4 C0040053 | thrombosis | 2 C0235896 | pulmonary infiltration | 2 C0037284 | skin lesions | 2 C0015230 | skin rash | 2 C0022660 | acute renal failure | 2 C0221013 | systemic mastocytosis | 2 C0009319 | colitis | 2 C0010073 | coronary vasospasm | 1 C0030499 | parasitic diseases | 1 C0242379 | lung cancer | 1 C0079748 | lymphoblastic lymphoma | 1 C0024228 | lymphadenopathy | 1 C0023467 | acute myelogenous leukaemia | 1 C0003873 | rheumatoid arthritis | 1 C0026986 | myelodysplastic syndrome | 1 C0026975 | myelitis | 1 C0027022 | myeloproliferative disorder | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:19) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs121913507 | 26017288 | 3717 | JAK2 | umls:C0014457 | BeFree | Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617F in the diagnostic work up of eosinophilia. | 0.001085767 | 2015 | KIT | 4 | 54733155 | A | T |
rs121913507 | 26017288 | 3815 | KIT | umls:C0014457 | BeFree | Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617F in the diagnostic work up of eosinophilia. | 0.001085767 | 2015 | KIT | 4 | 54733155 | A | T |
rs121913507 | 17628645 | 3815 | KIT | umls:C0014457 | BeFree | KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia are distinct entities. | 0.001085767 | 2007 | KIT | 4 | 54733155 | A | T |
rs121917894 | 17476358 | 5897 | RAG2 | umls:C0014457 | BeFree | These Rag2(R229Q/R229Q) mice showed oligoclonal T cells, absence of circulating B cells, and peripheral eosinophilia. | 0.000271442 | 2007 | RAG2;C11orf74 | 11 | 36593483 | C | T,A |
rs12619285 | 19860791 | 9173 | IL1RL1 | umls:C0014457 | BeFree | We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. | 0.000814326 | 2010 | LOC102725082 | 2 | 212959321 | A | G |
rs1420101 | 19860791 | 9173 | IL1RL1 | umls:C0014457 | BeFree | We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. | 0.000814326 | 2010 | IL1RL1 | 2 | 102341256 | C | T |
rs2269426 | 19860791 | 9173 | IL1RL1 | umls:C0014457 | BeFree | We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. | 0.000814326 | 2010 | TNXB | 6 | 32108722 | G | A |
rs2416257 | 19860791 | 9173 | IL1RL1 | umls:C0014457 | BeFree | We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. | 0.000814326 | 2010 | WDR36 | 5 | 111099792 | C | T |
rs3184504 | 19860791 | 9173 | IL1RL1 | umls:C0014457 | BeFree | We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. | 0.000814326 | 2010 | SH2B3 | 12 | 111446804 | T | C |
rs376562815 | 23446743 | 4790 | NFKB1 | umls:C0014457 | BeFree | Recombinant IL-33 isoform with the G171S substitution had approximately 50% of activity of normal isoform in NF-κB-dependent reporter assay, and reduced bioactivity (∼65% of normal) to provoke eosinophilia when injected into mice. | 0.000271442 | 2013 | NFKB1;LOC101929401 | 4 | 102576961 | G | A |
rs386626619 | 26017288 | 3717 | JAK2 | umls:C0014457 | BeFree | Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617F in the diagnostic work up of eosinophilia. | 0.001085767 | 2015 | NA | NA | NA | NA | NA |
rs386626619 | 26017288 | 3815 | KIT | umls:C0014457 | BeFree | Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617F in the diagnostic work up of eosinophilia. | 0.001085767 | 2015 | NA | NA | NA | NA | NA |
rs3939286 | 19860791 | 9173 | IL1RL1 | umls:C0014457 | BeFree | We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. | 0.000814326 | 2010 | NA | 9 | 6210099 | T | C |
rs4143832 | 19860791 | 9173 | IL1RL1 | umls:C0014457 | BeFree | We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. | 0.000814326 | 2010 | NA | 5 | 132527285 | T | G |
rs4431128 | 19860791 | 9173 | IL1RL1 | umls:C0014457 | BeFree | We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. | 0.000814326 | 2010 | NA | 3 | 128532835 | C | T |
rs748065 | 19860791 | 9173 | IL1RL1 | umls:C0014457 | BeFree | We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. | 0.000814326 | 2010 | NA | 8 | 21820591 | A | G |
rs77375493 | 26017288 | 3815 | KIT | umls:C0014457 | BeFree | Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617F in the diagnostic work up of eosinophilia. | 0.001085767 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
rs77375493 | 26017288 | 3717 | JAK2 | umls:C0014457 | BeFree | Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617F in the diagnostic work up of eosinophilia. | 0.001085767 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
rs9494145 | 19860791 | 9173 | IL1RL1 | umls:C0014457 | BeFree | We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. | 0.000814326 | 2010 | NA | 6 | 135111414 | T | 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.) |
Disease ID | 873 |
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Disease | eosinophilia |
Case | (Waiting for update.) |