Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 GeneticVariation disease BEFREE Pemphigus-like hypereosinophilic syndrome with FIP1L1-PDGFRA fusion gene: A challenging and uncommon clinical presentation. 31021002 2019
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 GeneticVariation disease BEFREE Angioimmunoblastic T-cell lymphoma and hypereosinophilic syndrome with FIP1L1/PDGFRA fusion gene effectively treated with imatinib: A case report. 28885361 2017
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease CTD_human Hypereosinophilic Syndrome as a Rare Cause of Reversible Biventricular Heart Failure. 28347583 2017
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 GeneticVariation disease BEFREE Imatinib Treatment in PDGFRA-Negative Childhood Hypereosinophilic Syndrome. 26257279 2016
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease BEFREE Clinical features predict responsiveness to imatinib in platelet-derived growth factor receptor-alpha-negative hypereosinophilic syndrome. 26797802 2016
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 GeneticVariation disease BEFREE The purpose of this review is to provide an overview of the differential diagnosis for eosinophilia, to recommend specific steps for the pathologist evaluating blood and bone marrow, and to emphasize 2 important causes of eosinophilia that require specific ancillary tests for diagnosis: myeloproliferative neoplasm with PDGFRA rearrangement and lymphocyte-variant hypereosinophilic syndrome. 27684977 2016
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease BEFREE Until now there have only been 3 reported cases of pediatric FIP1L1-PDGFRα-positive hypereosinophilic syndromes. 23337549 2014
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 GeneticVariation disease BEFREE Novel imatinib-sensitive PDGFRA-activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease. 21224473 2011
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease BEFREE Interstitial deletion involving chromosome 4q12 generates the novel tyrosine kinase fusion protein encoded by FIP1L1-PDGFRA, which is present in many patients previously labelled as having hypereosinophilic syndrome, initially reported in 2003. 18256119 2008
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease BEFREE A 35-year-old man with FIP1L1-PDGFRA positive hypereosinophilic syndrome and cardiac involvement, was treated with imatinib 100 mg daily. 17544504 2008
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease BEFREE Our study shows that treatment with mepolizumab, an agent designed to target eosinophils, can result in corticosteroid-sparing for patients negative for FIP1L1-PDGFRA who have the hypereosinophilic syndrome. 18344568 2008
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 GeneticVariation disease BEFREE The fusion protein between the platelet-derived growth factor receptor alpha (PDGFRalpha, P) gene and the Fip1-like1 (FIP1L1, F) may be identified in 14 to 60% of HES and it indicates a clonal hypereosinophilic syndrome called F/P-positive CEL. 17549478 2008
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 GeneticVariation disease BEFREE These may also prove useful for other hypereosinophilic syndromes without PDGFRA or PDGFRB rearrangements. 17133098 2007
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease LHGDN Low-dose imatinib mesylate leads to rapid induction of major molecular responses and achievement of complete molecular remission in FIP1L1-PDGFRA-positive chronic eosinophilic leukemia. 17299092 2007
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease LHGDN FIP1L1-PDGFRA positive chronic eosinophilic leukemia in Tunisian patients. 17137731 2007
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease BEFREE Platelet-derived growth factor receptor-alpha-associated hypereosinophilic syndrome and lymphomatoid papulosis. 16965435 2006
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease CTD_human Apoptosis induction by retinoids in eosinophilic leukemia cells: implication of retinoic acid receptor-alpha signaling in all-trans-retinoic acid hypersensitivity. 16778211 2006
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 GeneticVariation disease LHGDN A clonal hypereosinophilic syndrome with specific and effective therapy: a report of two cases. 17214097 2006
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease BEFREE Multilineage involvement of the fusion gene in patients with FIP1L1/PDGFRA-positive hypereosinophilic syndrome. 16409293 2006
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease LHGDN Detection of the FIP1L1-PDGFRA fusion in idiopathic hypereosinophilic syndrome and chronic eosinophilic leukemia. 16502585 2006
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 GeneticVariation disease LHGDN [FIP1L1-PDGFRalpha-positive myeloproliferative disease with hypereosinophilia: clinical characteristics and pathogenetic therapy]. 16116920 2005
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease BEFREE The hypereosinophilic syndrome: fluorescence in situ hybridization detects the del(4)(q12)-FIP1L1/PDGFRA but not genomic rearrangements of other tyrosine kinases. 15921374 2005
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 Biomarker disease BEFREE The discovery of the FIP1L1-PDGFRA fusion gene in the hypereosinophilic syndrome is an example of the power of clinical translational research and identifies interstitial chromosomal deletion as a novel mechanism to generate oncogenic tyrosine kinase fusion genes. 14676627 2004
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 GeneticVariation disease LHGDN A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. 12660384 2003
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 CausalMutation disease CGI