Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Disseminated eosinophilic collagen disease
0.100 GeneticVariation disease BEFREE Pemphigus-like hypereosinophilic syndrome with FIP1L1-PDGFRA fusion gene: A challenging and uncommon clinical presentation. 31021002 2019
Disseminated eosinophilic collagen disease
0.100 GeneticVariation disease BEFREE Angioimmunoblastic T-cell lymphoma and hypereosinophilic syndrome with FIP1L1/PDGFRA fusion gene effectively treated with imatinib: A case report. 28885361 2017
Disseminated eosinophilic collagen disease
0.100 GeneticVariation disease BEFREE Imatinib Treatment in PDGFRA-Negative Childhood Hypereosinophilic Syndrome. 26257279 2016
Disseminated eosinophilic collagen disease
0.100 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
Disseminated eosinophilic collagen disease
0.100 Biomarker disease BEFREE Clinical features predict responsiveness to imatinib in platelet-derived growth factor receptor-alpha-negative hypereosinophilic syndrome. 26797802 2016
Disseminated eosinophilic collagen disease
0.100 Biomarker disease BEFREE FIP1L1-PDGFRα-positive hypereosinophilic syndrome in childhood: a case report and review of literature. 23337549 2014
Disseminated eosinophilic collagen disease
0.100 GeneticVariation disease BEFREE Novel imatinib-sensitive PDGFRA-activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease. 21224473 2011
Disseminated eosinophilic collagen disease
0.100 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
Disseminated eosinophilic collagen disease
0.100 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
Disseminated eosinophilic collagen disease
0.100 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
Disseminated eosinophilic collagen disease
0.100 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
Disseminated eosinophilic collagen disease
0.100 Biomarker disease BEFREE Platelet-derived growth factor receptor-alpha-associated hypereosinophilic syndrome and lymphomatoid papulosis. 16965435 2006
Disseminated eosinophilic collagen disease
0.100 Biomarker disease BEFREE Multilineage involvement of the fusion gene in patients with FIP1L1/PDGFRA-positive hypereosinophilic syndrome. 16409293 2006
Disseminated eosinophilic collagen disease
0.100 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
Disseminated eosinophilic collagen disease
0.100 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