Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE TERT, AKT1, PIK3CA, and EIF1AX were frequently co-mutated with driver genes (BRAF<sup>V600E</sup> and RAS) in advanced DTCs as well as ATC, but tumor suppressors (e.g., TP53 and CDKN2A) were predominantly altered in ATC. 31235699 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Mutation in translation initiation factor EIF1AX (11%) and tumor suppressor TP53 (16%) have also been reported in PDTC. 30747050 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 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: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE None of the tumors with only an EIF1AX mutation metastasized. 30073324 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE No EIF1AX mutations were detected in any of the tumors. 29726589 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Evaluation of tumour mutation data together with the patients' clinicopathological features revealed a significant correlation between TERT plus BRAF mutations and advanced tumour stage (T4) (P=.020).No mutations were identified in EIF1AX. 28502101 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE In uveal melanoma, BAP1 mutation and SF3B1/EIF1AX mutations were negatively correlated, and BAP1-mutant tumors indicated significant worse prognosis than SF3B1/EIF1AX-mutant tumors ( p = 0.028). 28618948 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE According to our data, patients with UM can be classified into 3 groups, of which EIF1AX-mutated tumors and tumors without BAP1, SF3B1, or EIF1AX mutations are associated with prolonged survival and low metastatic risk, SF3B1-mutated tumors are associated with late metastasis, and tumors with an aberrant BAP1 are associated with an early metastatic risk and rapid decline in patient DFS. 26923342 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas. 26769193 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The tumour showed mutations in GNA11 and EIF1AX that are typical for uveal melanoma and absent from cutaneous melanoma. 24423917 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Tumors with chromosome 3 disomy/BAP1-WT/EIF1AX-WT have a 10-fold increased risk of metastasis at 48 months compared with disomy-3/BAP1-WT/EIF1AX mutant tumors. 24970262 2014