TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Epithelioid glioblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4289580
Disease: Epithelioid glioblastoma
Epithelioid glioblastoma 		0.020 GeneticVariation disease BEFREE BRAF mutation at T1799 > A (V600E) was detected in 4/12 (33.3%) PXA and 4/8 (50.0%) eGBM, while TERT-p mutation was detected at C228 > T in 2/12 (16.7%) PXA and at C250 > T in 1/8 (12.5%) eGBM. 29532523 2018
CUI: C4289580
Disease: Epithelioid glioblastoma
Epithelioid glioblastoma 		0.020 GeneticVariation disease BEFREE However, there are no previous reports on E-GBM with telomerase reverse transcriptase (TERT) promoter mutation in addition to BRAF V600E mutation. 27302309 2017