Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease BEFREE Mutations in the genes encoding telomerase reverse transcriptase (TERT) and telomerase's RNA components as well as shortened telomeres are risk factors for idiopathic pulmonary fibrosis, where repetitive injury to the alveolar epithelium is considered a key factor in pathogenesis. 31000627 2019
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease BEFREE The minor allele frequencies (MAF) were significantly greater for MUC5B rs868903 (P = 0.042) and TERT rs2853676 (P = 0.041) in IPF than those in healthy controls. 31653936 2019
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease BEFREE A Rare Missense Variant in Telomerase Reverse Transcriptase is Associated with Idiopathic Pulmonary Fibrosis in a Chinese Han Family. 30203795 2018
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease BEFREE Owing to diverse clinical presentations, STSs pose a diagnostic challenge, with bone marrow failure and idiopathic pulmonary fibrosis being frequent manifestations, occurring in association with gene mutations involving DKC1 (for expansion of gene symbols, use search tool at www.genenames.org), TERT, TERC, and others. 29804726 2018
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease BEFREE Germline mutations in TERT (rs2736100, n = 33) and CDKN1A (rs2395655, n = 27) associated with idiopathic pulmonary fibrosis risk were detected in most samples. 28862766 2018
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 Biomarker disease CTD_human A Rare Missense Variant in Telomerase Reverse Transcriptase is Associated with Idiopathic Pulmonary Fibrosis in a Chinese Han Family. 30203795 2018
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease BEFREE A subanalysis of 186 case subjects with sporadic IPF confirmed TERT, RTEL1, and PARN as study-wide significant contributors to sporadic IPF. 28099038 2017
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 Biomarker disease BEFREE Idiopathic pulmonary fibrosis (IPF) is an incurable complex genetic disorder that is associated with sequence changes in 7 genes (MUC5B, TERT, TERC, RTEL1, PARN, SFTPC, and SFTPA2) and with variants in at least 11 novel loci. 27630174 2016
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease BEFREE Heterozygous mutations in four telomere-related genes have been linked to pulmonary fibrosis, but little is known about similarities or differences of affected individuals.115 patients with mutations in telomerase reverse transcriptase (TERT) (n=75), telomerase RNA component (TERC) (n=7), regulator of telomere elongation helicase 1 (RTEL1) (n=14) and poly(A)-specific ribonuclease (PARN) (n=19) were identified and clinical data were analysed.Approximately one-half (46%) had a multidisciplinary diagnosis of idiopathic pulmonary fibrosis (IPF); others had unclassifiable lung fibrosis (20%), chronic hypersensitivity pneumonitis (12%), pleuroparenchymal fibroelastosis (10%), interstitial pneumonia with autoimmune features (7%), an idiopathic interstitial pneumonia (4%) and connective tissue disease-related interstitial fibrosis (3%). 27540018 2016
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease BEFREE Mutations in telomerase complex genes (TERT or TERC) and short telomeres are genetic risk factors for the development of familial or sporadic idiopathic pulmonary fibrosis. 24993703 2014
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease BEFREE Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) and IPF or non-IPF sporadic ILD were tested using 227 patients with ILD and 689 control subjects. 24434656 2014
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 Biomarker disease BEFREE Lead SNPs at two loci (TERC and TERT) associate with several cancers and other diseases, including idiopathic pulmonary fibrosis. 23535734 2013
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 Biomarker disease CTD_human Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 Biomarker disease CTD_human Identification of seven loci affecting mean telomere length and their association with disease. 23535734 2013
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 AlteredExpression disease BEFREE More specifically, h-TERT mRNA levels in the patients with IPF were higher compared with those in the controls (p=0.03) and patients with NSCLC (p=0.007). 24067943 2013
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 Biomarker disease BEFREE Indeed, several important themes emerged including (a) the intricate connection between the DNA replication and repair machineries in basic telomere replication and stability, (b) the complex interplay between the telomere-specific shelterin components and DNA repair proteins, (c) the nontelomeric functions of TERT in numerous cell types including stem cells, (d) a growing appreciation for the connection that exists between telomere maintenance deficiency states and diverse conditions such as idiopathic pulmonary fibrosis and hematopoietic malignancies, and (e) the successful progression of agents targeting telomerase directly and immunologically to phase III clinical trials. 20841475 2010
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 Biomarker disease BEFREE In six generations of a large family, a loss-of-function mutation in the telomerase enzyme gene TERT associated with severe telomere shortening and a range of hematologic manifestations, from macrocytosis to acute myeloid leukemia, with severe liver diseases marked by fibrosis and inflammation, and one case of idiopathic pulmonary fibrosis but not with autoimmune disorders. 19936245 2009
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease LHGDN A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. 18835860 2008
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease BEFREE Considering previous reports indicating that rare mutations of TERT are found in patients with familial IPF, we suggest that the common genetic variation within TERT may contribute to the risk of sporadic IFP in the Japanese population. 18835860 2008
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease LHGDN Telomerase mutations in families with idiopathic pulmonary fibrosis. 17392301 2007
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease BEFREE Thus, mutations in TERT or TERC that result in telomere shortening over time confer a dramatic increase in susceptibility to adult-onset IPF. 17460043 2007
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 GeneticVariation disease LHGDN Adult-onset pulmonary fibrosis caused by mutations in telomerase. 17460043 2007
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 Biomarker disease CTD_human Telomerase mutations in families with idiopathic pulmonary fibrosis. 17392301 2007
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 Biomarker disease CTD_human Adult-onset pulmonary fibrosis caused by mutations in telomerase. 17460043 2007
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.600 SusceptibilityMutation disease ORPHANET Adult-onset pulmonary fibrosis caused by mutations in telomerase. 17460043 2007