TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Leukemia, Myelocytic, Acute ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797046041
rs797046041
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs35719940
rs35719940
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.020 GeneticVariation BEFREE In conclusion, the TERT A1062T variant is an independent negative prognostic factor in younger patients with acute myeloid leukemia and seems to predispose those patients to treatment-related toxicity. 28331964 2017
dbSNP: rs35719940
rs35719940
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.020 GeneticVariation BEFREE Therefore, molecular testing for TERT A1062T mutation in patients with AML is recommended in order to delineate their prognostic status. 25108601 2014
dbSNP: rs2736100
rs2736100
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation BEFREE A significant association for increased risk of AML was found for TERT SNVs, rs2853669 (OR = 2.45, p = 0.00015) and rs2736100 (OR = 1.5, p = 0.03). 26298771 2015
dbSNP: rs2853669
rs2853669
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation BEFREE We show that rs2853669 CC may be a risk factor for the development of AML that may also be used as a prognostic marker to identify high risk normal karyotype-AML (NK-AML) patients, for treatment guidance. 26298771 2015