PedAM
Pediatric Disease Annotations & Medicines
| idiopathic hypereosinophilic syndrome | ||||
| Disease ID | 999 |
|---|---|
| Disease | idiopathic hypereosinophilic syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:8) C0040053 | thrombosis | 3 C0014457 | eosinophilia | 3 C0206143 | loeffler's endocarditis | 2 C0151788 | eosinophilic myocarditis | 1 C0017665 | membranous glomerulopathy | 1 C0042384 | vasculitis | 1 C0856761 | budd-chiari syndrome | 1 C0553980 | endomyocardial fibrosis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:16) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908587 | 22447844 | 5156 | PDGFRA | umls:C0206141 | BeFree | The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFRα) in hypereosinophilic syndrome (HES) and T315I Bcr-Abl in chronic myeloid leukemia (CML) are resistant to imatinib and the second-generation small-molecule tyrosine kinase inhibitors (TKI). | 0.009771907 | 2012 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 25431951 | 5156 | PDGFRA | umls:C0206141 | BeFree | In conclusion, S116836 is active against WT and T674I FIP1L1-PDGFRα-expressing cells, and may be a prospective agent for the treatment of HES/CEL. | 0.009771907 | 2014 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 25431951 | 25 | ABL1 | umls:C1540912 | BeFree | Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGFRα, which is homologous to the imatinib-resistant T315I mutation in BCR-ABL. | 0.000271442 | 2014 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 22447844 | 5156 | PDGFRA | umls:C1540912 | BeFree | The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFRα) in hypereosinophilic syndrome (HES) and T315I Bcr-Abl in chronic myeloid leukemia (CML) are resistant to imatinib and the second-generation small-molecule tyrosine kinase inhibitors (TKI). | 0.145303683 | 2012 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 25431951 | 5156 | PDGFRA | umls:C1540912 | BeFree | In conclusion, S116836 is active against WT and T674I FIP1L1-PDGFRα-expressing cells, and may be a prospective agent for the treatment of HES/CEL. | 0.145303683 | 2014 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 25431951 | 25 | ABL1 | umls:C0206141 | BeFree | Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGFRα, which is homologous to the imatinib-resistant T315I mutation in BCR-ABL. | 0.000542884 | 2014 | PDGFRA | 4 | 54278380 | C | T |
| rs121913459 | 25431951 | 25 | ABL1 | umls:C1540912 | BeFree | Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGFRα, which is homologous to the imatinib-resistant T315I mutation in BCR-ABL. | 0.000271442 | 2014 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 25431951 | 25 | ABL1 | umls:C0206141 | BeFree | Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGFRα, which is homologous to the imatinib-resistant T315I mutation in BCR-ABL. | 0.000542884 | 2014 | ABL1 | 9 | 130872896 | C | T |
| rs386626619 | 15860661 | 3717 | JAK2 | umls:C0206141 | BeFree | Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation. | 0.000542884 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 15860661 | 3717 | JAK2 | umls:C1540912 | BeFree | Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation. | 0.000542884 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 18024388 | 3717 | JAK2 | umls:C1540912 | BeFree | The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or chronic eosinophilic leukemia. | 0.000542884 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18024388 | 3717 | JAK2 | umls:C0206141 | BeFree | The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or chronic eosinophilic leukemia. | 0.000542884 | 2007 | NA | NA | NA | NA | NA |
| rs77375493 | 18024388 | 3717 | JAK2 | umls:C1540912 | BeFree | The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or chronic eosinophilic leukemia. | 0.000542884 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18024388 | 3717 | JAK2 | umls:C0206141 | BeFree | The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or chronic eosinophilic leukemia. | 0.000542884 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 15860661 | 3717 | JAK2 | umls:C1540912 | BeFree | Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation. | 0.000542884 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 15860661 | 3717 | JAK2 | umls:C0206141 | BeFree | Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation. | 0.000542884 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,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:2) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0206141 | tretinoin | D014212 | 302-79-4 | hypereosinophilic syndrome | MESH:D017681 | therapeutic | 16778211 | ||
| C0206141 | vancomycin | D014640 | 1404-90-6 | hypereosinophilic syndrome | MESH:D017681 | marker/mechanism | 16407668 | ||
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.) | |