Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
0.030 Biomarker group BEFREE These were the presence of gross chromosomal copy number changes and the presence of mutations in GNAQ, GNA11, BRAF, NRAS, pTERT, SF3B1, and EIF1AX; the presence of metastases and time period between diagnosis and death from melanoma; and correlation between the tumor genetic profile and the clinical behavior of the tumor. 30605742 2019
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
0.030 GeneticVariation group BEFREE Additional cytogenetic and genetic changes, however, including chromosome 3 monosomy, mutations in the BAP1 tumor suppressor gene, alterations in the splicing factors SRSF2/SF3B1, and mutations in the translation initiation factor EIF1AX, modulate signaling output in uveal tumors and modify the risk of metastases. 29738114 2018
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
0.030 GeneticVariation group BEFREE Patients with tumors harboring EIF1AX mutations rarely demonstrated metastases (2 of 28 patients) and overall had a longer disease-free survival (DFS; 190.1 vs. 100.2 months; P < 0.001). 26923342 2016