RELA, RELA proto-oncogene, NF-kB subunit, 5970

N. diseases: 483; N. variants: 11
Disease: Myopericytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1302808
Disease: Myopericytoma
Myopericytoma 		0.020 GeneticVariation disease BEFREE Moreover, SRF-RELA fusions have been described in a subset of cellular variants of myofibroma and myopericytoma showing myogenic differentiation. 31478943 2020
CUI: C1302808
Disease: Myopericytoma
Myopericytoma 		0.020 GeneticVariation disease BEFREE In summary, we report a subset of cellular variants of myofibroma and myopericytoma showing a smooth muscle-like immunophenotype and harboring recurrent SRF-RELA gene fusions, which mimic sarcomas with myogenic differentiation. 28248815 2017