Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 Biomarker disease BEFREE Our experimental results further demonstrate that Co-fuse can identify known driver fusion genes (e.g., IGH-MYC, IGH-WHSC1) in MM, when compared to AML samples, indicating the potential of Co-fuse to aid the discovery of yet unknown driver fusion genes through cohort comparisons. 29882166 2018
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 AlteredExpression disease BEFREE By using genetically matched MM cell lines that had either high (pathological) or low (physiological) expression of MMSET, we found that MMSET-high cells had increased damage at baseline. 27109101 2016
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 Biomarker disease BEFREE As a part of these translational efforts, novel drugs that inhibit oncogenic proteins overexpressed in defined molecular subgroups of the disease, such as FGFR3 and MMSET in t(4;14) MM, are currently being developed. 23233602 2012
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 Biomarker disease BEFREE Nearly half of these tumors are nonhyperdiploid and mostly have immunoglobulin H (IgH) translocations that involve 5 recurrent chromosomal loci, including 11q13 (cyclin D1), 6p21 (cyclin D3), 4p16 (fibroblast growth factor receptor 3 [FGFR3] and multiple myeloma SET domain [MMSET]), 16q23 (c-maf), and 20q11 (mafB). 15090448 2004
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 Biomarker disease BEFREE Together, our work elucidates previously unrecognized interplay between MMSET and EZH2 in myeloma oncogenesis and identifies domains to be considered when designing inhibitors of MMSET function. 25188243 2014
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 GeneticVariation disease BEFREE The spectrum of KRAS, NRAS, and BRAF codon mutations varied across subgroups with NRAS mutations at Q61 codon being common in hyperdiploid (HRD) and t(11;14) myeloma while being rare in MMSET and MAF. 28427158 2017
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 GeneticVariation disease BEFREE The t(4;14)(p16.3;q32), associated with 10-20% of cases of multiple myeloma (MM), deregulates the expression of MMSET and FGFR3. 15029211 2004
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 Biomarker disease BEFREE There is a promiscuous array of nonrandom chromosomal partners (and oncogenes), with the 3 most frequent partners (11q13 [cyclin D1]; 4p16 [FGFR3 and MMSET]; 16q23 [c-maf]) involved in nearly half of MM tumors. 11418483 2001
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 GeneticVariation disease BEFREE IGH-MMSET transcripts were found in 11 of the 53 (20%) MM cases and 1 of 16 (6%) cases of monoclonal gammopathy of uncertain significance. 10945609 2000
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 GeneticVariation disease BEFREE From a clinical standpoint, it is critical to identify MM patients carrying the t(4;14) translocation, which is present in 15% of myelomas and is associated with dysregulation of WHSC1/MMSET and often FGFR3. 22160056 2011
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 Biomarker disease BEFREE NSD2 is recruited through its PHD domain to oncogenic gene loci to drive multiple myeloma. 23980095 2013
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 AlteredExpression disease BEFREE We found that MMSET enhances the proliferation of MM cells by stimulating the expression of c-MYC at the post-transcriptional level. 22972034 2013
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 AlteredExpression disease BEFREE Markedly increased MMSET expression was found in 1 MM showing associated FGFR3 and MMSET signals on an unidentified chromosome. 15543617 2005
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 AlteredExpression disease BEFREE We found that ACA11, an orphan box H/ACA class small nucleolar RNA (snoRNA) encoded within an intron of WHSC1, was highly expressed in t(4;14)-positive MM and other cancers. 22751105 2012
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 AlteredExpression disease BEFREE A number of non-t(4;14) cases also express MMSET consistent with this gene playing a role in myeloma pathogenesis. 15355895 2004
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 Biomarker disease BEFREE The multiple myeloma associated MMSET gene contributes to cellular adhesion, clonogenic growth, and tumorigenicity. 17942756 2008
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 AlteredExpression disease BEFREE Our data indicate that IGFBP7 expression is a marker for a specific methylation pattern in myeloma, linked to translocation t(4;14) associated MMSET expression, showing clinical features of adverse prognosis with absence of myeloma bone disease. 25887188 2015
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 GeneticVariation disease BEFREE Simultaneous translocations of FGFR3/MMSET and CCND1 into two different IGH alleles in multiple myeloma: lack of concurrent activation of both proto-oncogenes. 17498561 2007
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 GeneticVariation disease BEFREE In particular, MMSET/NSD2 selective inhibition is being pursued for therapeutic interventions against multiple myeloma (MM) cases, especially in multiple myeloma t(4;14)(p16.3;q32) translocation that is associated with a significantly worse prognosis than other MM subgroups. 30471851 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 AlteredExpression disease BEFREE In studies of patients with multiple myeloma (MM), gene expression profiling (GEP) of myeloma cells demonstrates substantially higher expression of MMSET, FGFR3, CCND3, CCND1, MAF, and MAFB--the partner genes of 14q32 translocations--than GEP of plasma cells from healthy individuals. 24638926 2014
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.100 Biomarker disease BEFREE We have analysed a series of 80 patient samples, comprising 67 multiple myeloma (MM) cases and 13 monoclonalgammopathy of undetermined significance (MGUS) cases, using RT-PCR to detect IgH-MMSET fusions. 12139740 2002