TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2853676
rs2853676
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0017638
Disease:
Glioma 		0.840 GeneticVariation BEFREE The genotype #GA# for rs1695 was recognized to be a protective genotype for glioma (OR, 0.67; 95% CI, 0.47-0.96; P = 0.027), while the genotype #AG# for rs2853676 was shown to be a risk genotype for glioma (OR, 1.50; 95% CI, 1.05-2.15; P = 0.025). 22795327 2012
dbSNP: rs2853676
rs2853676
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0017638
Disease:
Glioma 		A 0.840 GeneticVariation GWASDB Genome-wide association study identifies five susceptibility loci for glioma. 19578367 2009
dbSNP: rs2853676
rs2853676
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0017638
Disease:
Glioma 		A 0.840 GeneticVariation GWASCAT Genome-wide association study identifies five susceptibility loci for glioma. 19578367 2009
dbSNP: rs2736100
rs2736100
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		A 0.810 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs2736100
rs2736100
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		0.810 GeneticVariation BEFREE As a result, rs2736100 and rs35705950 were associated significantly and independently with ILD as a single phenotype (Odds ratio [OR], 1.29; 95% confidence interval [CI], 1.04-1.60; P = 2 × 10(-2); and OR, 2.22; 95% CI, 1.69-2.92; P = 7 × 10(-9); respectively). 24434656 2014
dbSNP: rs2736100
rs2736100
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		A 0.810 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs2853677
rs2853677
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		0.810 GeneticVariation BEFREE Our data suggest that Snail1 may be a co-factor of rs2853677 for predicting lung adenocarcinoma susceptibility and prognosis. 27191258 2016
dbSNP: rs2853677
rs2853677
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		C 0.810 GeneticVariation GWASCAT A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population. 22797724 2012
dbSNP: rs2853677
rs2853677
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		C 0.810 GeneticVariation GWASCAT Genome-wide association study confirms lung cancer susceptibility loci on chromosomes 5p15 and 15q25 in an African-American population. 27393504 2016
dbSNP: rs2853677
rs2853677
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		C 0.810 GeneticVariation GWASDB A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population. 22797724 2012
dbSNP: rs10069690
rs10069690
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia 		T 0.800 GeneticVariation GWASDB Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. 23770605 2013
dbSNP: rs10069690
rs10069690
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia 		T 0.800 GeneticVariation GWASCAT Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes. 31407831 2019
dbSNP: rs121918661
rs121918661
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Adult-onset pulmonary fibrosis caused by mutations in telomerase. 17460043 2007
dbSNP: rs121918661
rs121918661
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. 15814878 2005
dbSNP: rs121918661
rs121918661
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Pulmonary fibrosis, bone marrow failure, and telomerase mutation. 22512499 2012
dbSNP: rs121918661
rs121918661
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. 21483807 2011
dbSNP: rs121918661
rs121918661
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918661
rs121918661
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs121918661
rs121918661
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. 21436073 2011
dbSNP: rs121918662
rs121918662
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918662
rs121918662
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Pulmonary fibrosis, bone marrow failure, and telomerase mutation. 22512499 2012
dbSNP: rs121918662
rs121918662
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. 21483807 2011
dbSNP: rs121918662
rs121918662
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. 15814878 2005
dbSNP: rs121918662
rs121918662
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Adult-onset pulmonary fibrosis caused by mutations in telomerase. 17460043 2007
dbSNP: rs121918662
rs121918662
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. 21436073 2011