Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Myeloproliferative neoplasms with t(8;22)(p11.2;q11.2)/BCR-FGFR1: a meta-analysis of 20 cases shows cytogenetic progression with B-lymphoid blast phase. 28551329 2017
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33). 10688839 2000
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE FGFR1 translocation with concurrent myeloproliferative neoplasm, systemic mastocytosis, and lymphoblastic lymphoma: a case report. 29107667 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13). 9576949 1998
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE A ZMYM2-FGFR1 8p11 myeloproliferative neoplasm with a novel nonsense RUNX1 mutation and tumor lysis upon imatinib treatment. 23751892 2013
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE BCR-FGFR1, CNTRL-FGFR1, CUX1-FGFR1, FGFR1OP-FGFR1, MYO18A-FGFR1 and ZMYM2-FGFR1 fusions in myeloproliferative neoplasms are non-receptor-type FGFR kinases, whereas FGFR1-TACC1, FGFR2-AFF3, FGFR2-BICC1, FGFR2-PPHLN1, FGFR3-BAIAP2L1 and FGFR3-TACC3 fusions in solid tumors are transmembrane-type FGFRs with C-terminal alterations. 27245147 2016
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE By analogy with these, we propose that the RAMP-FGFR1 fusion product will contribute to progression of this myeloproliferative disorder by constitutive activation of tyrosine kinase function. 9499416 1998
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE Characterization of FIM-FGFR1, the fusion product of the myeloproliferative disorder-associated t(8;13) translocation. 10480903 1999
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Combined translocation with ZNF198-FGFR1 gene fusion and deletion of potential tumor suppressors in a myeloproliferative disorder. 17321332 2007
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Common features of myeloproliferative disorders with t(8;9)(p12;q33) and CEP110-FGFR1 fusion: report of a new case and review of the literature. 18096225 2008
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Constitutive Notch pathway activation in murine ZMYM2-FGFR1-induced T-cell lymphomas associated with atypical myeloproliferative disease. 21527531 2011
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group CTD_human Discovery of 3-(2,6-dichloro-3,5-dimethoxy-phenyl)-1-{6-[4-(4-ethyl-piperazin-1-yl)-phenylamino]-pyrimidin-4-yl}-1-methyl-urea (NVP-BGJ398), a potent and selective inhibitor of the fibroblast growth factor receptor family of receptor tyrosine kinase. 21936542 2011
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Dual lympho-myeloproliferative disorder in a patient with t(8;22) with BCR-FGFR1 gene fusion. 15870860 2005
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Endogenous retroviral sequence is fused to FGFR1 kinase in the 8p12 stem-cell myeloproliferative disorder with t(8;19)(p12;q13.3). 12393597 2003
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE Finally, translocations associated with the rare 8p11 myeloproliferative syndrome and other atypical myeloproliferative disorders have permitted the identification of a number of novel fusion proteins involving fibroblast growth factor receptor-1. 11640868 2001
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Fine-needle aspiration cytology of T-lymphoblastic lymphoma associated FGFR1 rearrangement myeloproliferative neoplasm. 23904402 2014
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE FOP-FGFR1 tyrosine kinase, the product of a t(6;8) translocation, induces a fatal myeloproliferative disease in mice. 12969958 2004
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE Further FISH indicated a breakpoint within fibroblast growth factor receptor 1 (FGFR1), the receptor tyrosine kinase that is known to be disrupted in a distinctive myeloproliferative disorder, most commonly by fusion to ZNF198. 11739186 2001
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL. 11746971 2001
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group LHGDN Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL. 11746971 2001
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Hematologic malignancies associated with FGFR1 abnormalities present in heterogeneous forms, including myeloproliferative neoplasm, acute myeloid leukemia (AML), T- or B-lineage lymphoblastic leukemia/lymphoma, and even mixed phenotype acute leukemia. 23609419 2013
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Here we describe another case of myeloproliferative neoplasm with chromosome translocation t(8;19) involving FGFR1 gene associated with systemic mastocytosis. 24551307 2014
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 GeneticVariation group BEFREE Here, we report a new translocation at the FGFR1 locus in a patient who carried t(1;8)(q25;p11.2) and presented with myeloproliferative neoplasm-like symptoms. 22619110 2012
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE Important changes include (1) the change of nomenclature of myeloproliferative disorder to myeloproliferative neoplasm emphasizing the clonal nature of these disorders; (2) the classification of mast cell disease as an MPN; (3) the reorganization of the eosinophilic disorders into a molecularly defined category of PDGFRA, PDGFRB and FGFR1-associated myeloid and lymphoid neoplasms with eosinophilia and chronic eosinophilic leukemia, not otherwise specified; and (4) refinement of the diagnostic criteria for PV, ET and PMF incorporating recently described molecular markers, JAK2V617F, JAK2 exon 12 mutations and MPL mutations. 20191332 2010
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.400 Biomarker group BEFREE Induction of the plasminogen activator inhibitor-2 in cells expressing the ZNF198/FGFR1 fusion kinase that is involved in atypical myeloproliferative disease. 16410451 2006