chr5:1253167:> Detail (hg38)

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Summary
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Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr5:1,253,282-1,295,183
hg38	chr5:1,253,167-1,295,068

HGVS

RefSeq

Type	Transcript	Protein

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.025	squamous cell carcinoma	However, the joint effect of TERT and CLPTM1L variants increased the risk of lun...	BeFree,GAD,LHGDN	24861918	Detail
0.025	squamous cell carcinoma	Five of the 24 tumors (all SCC) showed the C228T mutation in the TERT promoter.	BeFree,GAD,LHGDN	25823555	Detail
0.025	squamous cell carcinoma	We identified TERT promoter mutations in 21 of 48 ocular surface squamous neopla...	BeFree,GAD,LHGDN	26348634	Detail
0.002	Carcinoma, Transitional Cell	Despite the frequent occurrence of TERT promoter mutations in urothelial carcino...	BeFree	25042800	Detail
0.002	Carcinoma, Transitional Cell	TERT promoter mutations are associated with distant metastases in upper tract ur...	BeFree	25474136	Detail
0.002	Carcinoma, Transitional Cell	Mutations in the promoter of the telomerase reverse transcriptase (TERT) and fib...	BeFree	25809917	Detail
0.002	Carcinoma, Transitional Cell	TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial...	BeFree	25843513	Detail
0.003	Cardiovascular Diseases	Sequence variation in telomerase reverse transcriptase (TERT) as a determinant o...	BeFree,GAD	26201603	Detail
0.002	Cerebrovascular Disorders	NA	GAD		Detail
0.004	Malignant tumor of cervix	Amplification of TERT and TERC genes in cervical intraepithelial neoplasia and c...	BeFree	25433838	Detail
0.123	Uterine Cervical Neoplasm	NA	CTD_human,LHGDN		Detail
0.003	chondrosarcoma	NA	LHGDN		Detail
<0.001	Congenital chromosomal disease	NA	BeFree		Detail
<0.001	ulcerative colitis	NA	BeFree		Detail
<0.001	Colonic Polyps	NA	BeFree		Detail
0.005	colorectal carcinoma	We studied the regulation of telomerase and telomerase reverse transcriptase cat...	BeFree	25744732	Detail
0.005	colorectal carcinoma	A survival analysis was performed to assess the prognostic significance of hTERT...	BeFree	25845814	Detail
0.014	Colorectal Neoplasms	NA	BeFree,LHGDN		Detail
<0.001	common variable immunodeficiency	NA	BeFree		Detail
0.124	Cri-Du-Chat syndrome	NA	BeFree,CTD_human,LHGDN		Detail
<0.001	Phyllodes Tumor	TERT promoter mutations are frequent and show association with MED12 mutations i...	BeFree	26355235	Detail
0.002	Eczema	NA	GAD		Detail
0.003	Endometrial Neoplasms	NA	LHGDN		Detail
0.006	endometriosis	NA	BeFree,LHGDN		Detail
<0.001	Esophageal Neoplasms	Sequencing techniques were used to evaluate mutational status of telomerase reve...	BeFree	24983628	Detail
<0.001	Esophageal Neoplasms	TERT-CLPTM1L Rs401681 C>T polymorphism was associated with a decreased risk of e...	BeFree	25007268	Detail
0.003	gastritis	NA	BeFree,LHGDN		Detail
0.018	glioblastoma	Mutations lead to TERT upregulation and are associated with aggressive clinical ...	BeFree,GAD,LHGDN	25081751	Detail
0.018	glioblastoma	Patients with IDH1/2 wild-type gliomas and glioblastoma-like genomic alterations...	BeFree,GAD,LHGDN	25783747	Detail
0.018	glioblastoma	TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial...	BeFree,GAD,LHGDN	25843513	Detail
0.018	glioblastoma	Multiple cancer types, including up to 83% of glioblastomas (GBMs), harbor highl...	BeFree,GAD,LHGDN	25977370	Detail
0.269	Glioma	TERT promoter mutations lead to high transcriptional activity under hypoxia and ...	BeFree,CTD_human,GAD,GWASCAT,LHGDN	24937153	Detail
0.269	Glioma	Hot spot mutations in the promoter region of telomerase reverse transcriptase (T...	BeFree,CTD_human,GAD,GWASCAT,LHGDN	25035100	Detail
0.269	Glioma	TERT promoter mutations contribute to subset prognostication of lower-grade glio...	BeFree,CTD_human,GAD,GWASCAT,LHGDN	25081751	Detail
0.269	Glioma	Intermediate survival was seen in patients with IDH1/2 mutant, but 1p/19q intact...	BeFree,CTD_human,GAD,GWASCAT,LHGDN	25783747	Detail
0.269	Glioma	TERT promoter mutations highly correlated with upregulated TERT mRNA expression ...	BeFree,CTD_human,GAD,GWASCAT,LHGDN	25843513	Detail
0.269	Glioma	We highlight the genetic aberrations recently discovered in isocitrate dehydroge...	BeFree,CTD_human,GAD,GWASCAT,LHGDN	25976256	Detail
0.269	Glioma	The mean age at diagnosis was lowest (37 years) among patients who had gliomas w...	BeFree,CTD_human,GAD,GWASCAT,LHGDN	26061753	Detail
<0.001	goiter	NA	BeFree		Detail
0.002	Hay fever	NA	GAD		Detail
0.002	Head and Neck Neoplasms	NA	GAD		Detail
<0.001	Hemangiosarcoma	Forty-seven angiosarcomas were tested for TERT promoter mutation.	BeFree	26190196	Detail
<0.001	hepatitis	NA	BeFree		Detail
<0.001	hepatitis A	NA	BeFree		Detail
0.003	hepatitis B	Besides frequent hepatitis B virus integrations at TERT, we identify translocati...	BeFree	25159915	Detail
<0.001	Hepatitis, Chronic	NA	BeFree		Detail
<0.001	hepatitis C	NA	BeFree		Detail
0.004	Herpes Simplex Infections	In conclusion, gene therapy with IL-18 and HSV-TK plasmid vector driven by the h...	BeFree,LHGDN	25051201	Detail
0.001	HIV Infections	NA	BeFree		Detail
<0.001	Hydatidiform mole	NA	BeFree		Detail
0.003	Hyperplasia	NA	LHGDN		Detail
0.002	Hypersensitivity	NA	GAD		Detail
<0.001	pulmonary hypertension	Chronic imetelstat treatment reduced hypoxia-induced PH in wild-type mice or par...	BeFree	25550449	Detail
<0.001	Immunologic Deficiency Syndromes	NA	BeFree		Detail
<0.001	Inflammatory Bowel Diseases	NA	BeFree		Detail
<0.001	influenza	TERT activity (TERT mRNA expression) was significantly positively correlated wit...	BeFree	25816015	Detail
<0.001	Intestinal Neoplasms	NA	BeFree		Detail
0.003	keratoacanthoma	NA	LHGDN		Detail
0.120	Kidney Diseases	NA	CTD_human		Detail
<0.001	Kidney Neoplasm	NA	BeFree		Detail
0.003	Laryngeal neoplasm	NA	LHGDN		Detail
0.006	Fibroid Tumor	TERT promoter mutations were absent in gastrointestinal stromal tumour (GIST), t...	BeFree,LHGDN	25843513	Detail
0.007	leukemia	In this study, we found that cordycepin-induced apoptosis of human leukemia cell...	BeFree,LHGDN	25282637	Detail
0.004	chronic lymphocytic leukemia	NA	BeFree,LHGDN		Detail
0.120	lymphoid leukemia	NA	CTD_human		Detail
<0.001	Acute lymphocytic leukemia	NA	BeFree		Detail
<0.001	Leukemia, Lymphocytic, Acute, L1	NA	BeFree		Detail
0.121	Myeloid Leukemia, Chronic	5-aza-2'-deoxycytidine-mediated c-myc Down-regulation triggers telomere-dependen...	BeFree,CTD_human	24970385	Detail
0.121	Myeloid Leukemia, Chronic	Taken together, our findings suggest the importance of hTERT as a valuable molec...	BeFree,CTD_human	25015264	Detail
0.003	acute promyelocytic leukemia	NA	LHGDN		Detail
<0.001	Adult T-Cell Lymphoma/Leukemia	NA	BeFree		Detail
<0.001	Leukoencephalopathy, Progressive Multifocal	NA	BeFree		Detail
0.001	liver cirrhosis	NA	BeFree		Detail
<0.001	Liver diseases	NA	BeFree		Detail
0.002	Liver neoplasms	NA	BeFree		Detail
0.001	Lung diseases	Patients with documented TERT or TR mutations who received a lung transplant bet...	BeFree	25612863	Detail
0.002	Chronic Obstructive Airway Disease	NA	GAD		Detail
0.157	Lung Neoplasms	NA	BeFree,CTD_human,GAD,LHGDN		Detail
0.003	lymphoma	NA	BeFree,LHGDN		Detail
<0.001	Lymphoma, Non-Hodgkin	NA	BeFree		Detail
<0.001	Lymphoproliferative Disorders	Genetic variation within the hTERT gene may affect the progression and treatment...	BeFree	25684018	Detail
0.005	Malignant neoplasm of stomach	These data indicate that miR-1182 suppresses TERT, and thus it could be an effec...	BeFree	25662441	Detail
<0.001	medulloblastoma	TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial...	BeFree	25843513	Detail
0.132	melanoma	In melanoma a correlation has been suggested between the occurrence of TERT prom...	BeFree,CTD_human,GAD	25035100	Detail
0.132	melanoma	TERT promoter mutations were recently discovered in melanoma by next generation ...	BeFree,CTD_human,GAD	25042800	Detail
0.132	melanoma	Alterations in pathways including BRAF, CDKN2A, and TERT contribute to the devel...	BeFree,CTD_human,GAD	25407517	Detail
0.132	melanoma	A melanoma-associated molecular pathway was identified, where Ran, Aurora Kinase...	BeFree,CTD_human,GAD	25444926	Detail
0.132	melanoma	TERT promoter mutations in sinonasal malignant melanoma: a study of 49 cases.	BeFree,CTD_human,GAD	25746036	Detail
0.132	melanoma	We observed statistically significant associations with melanoma for two lung ca...	BeFree,CTD_human,GAD	25789475	Detail
0.132	melanoma	Coexistence of TERT promoter and BRAF mutations in cutaneous melanoma is associa...	BeFree,CTD_human,GAD	26055532	Detail
0.132	melanoma	A total of 77% of areas of intermediate lesions and melanomas in situ harbored T...	BeFree,CTD_human,GAD	26559571	Detail
0.002	Meningeal Neoplasms	NA	GAD		Detail
0.012	meningioma	ARID1A and TERT promoter mutations in dedifferentiated meningioma.	BeFree,GAD,LHGDN	25963524	Detail
0.003	Mixed Salivary Gland Tumor	NA	LHGDN		Detail
<0.001	Monosomy	NA	BeFree		Detail
0.006	multiple myeloma	NA	BeFree,LHGDN		Detail
<0.001	muscular dystrophy	NA	BeFree		Detail
0.003	myoma	NA	LHGDN		Detail
0.003	Nasal Polyps	NA	LHGDN		Detail
0.007	Neoplasm Metastasis	TERT promoter mutations are associated with distant metastases in upper tract ur...	BeFree,LHGDN	25474136	Detail
0.007	Neoplasm Metastasis	TERT promoter mutations are associated with distant metastases in papillary thyr...	BeFree,LHGDN	25583906	Detail
0.007	Neoplasm Metastasis	Association of TERT promoter mutation 1,295,228 C>T with BRAF V600E mutation, ol...	BeFree,LHGDN	25584719	Detail
0.002	Neoplasms, Germ Cell and Embryonal	NA	GAD		Detail
0.003	nephroblastoma	NA	BeFree,LHGDN		Detail
0.125	neuroblastoma	NA	BeFree,CTD_human,LHGDN		Detail
<0.001	nicotine dependence	NA	BeFree		Detail
0.001	oligodendroglioma	Infiltrating astrocytomas and secondary GBMs are characterized by IDH, TP53, and...	BeFree	25461780	Detail
0.001	oligodendroglioma	TERT promoter mutations are also noted in LGG and are mainly associated with oli...	BeFree	25664944	Detail
0.001	oligodendroglioma	Causal genetic changes in oligodendrogliomas (OD) with 1p/19q co-deletion includ...	BeFree	25694352	Detail
0.001	oligodendroglioma	TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial...	BeFree	25843513	Detail
<0.001	osteosarcoma	NA	BeFree		Detail
0.005	ovarian carcinoma	In this report, we used transfection screening to test interactions among 14 TER...	BeFree	24550717	Detail
0.001	pancytopenia	NA	BeFree		Detail
0.003	papilloma	NA	BeFree,LHGDN		Detail
<0.001	Extra-Adrenal Paraganglioma	NA	BeFree		Detail
0.004	pheochromocytoma	NA	BeFree,LHGDN		Detail
<0.001	Pleural effusion disorder	NA	BeFree		Detail
<0.001	Adenomatous Polyposis Coli	NA	BeFree		Detail
0.002	Precancerous Conditions	NA	BeFree		Detail
<0.001	Preleukemia	NA	BeFree		Detail
0.137	Prostatic Neoplasms	NA	BeFree,CTD_human,GAD,LHGDN		Detail
<0.001	pulmonary emphysema	Mutations in the essential telomerase genes TERT and TR cause familial pulmonary...	BeFree	25562321	Detail
0.010	pulmonary fibrosis	However, similar to affected individuals in this family, we identified a history...	BeFree,GAD,LHGDN	25539146	Detail
0.010	pulmonary fibrosis	Mutations in the essential telomerase genes TERT and TR cause familial pulmonary...	BeFree,GAD,LHGDN	25562321	Detail
0.010	pulmonary fibrosis	There were 9 patients (7 men) with TERT (n = 6) or TR (n = 3) mutations who rece...	BeFree,GAD,LHGDN	25612863	Detail
0.010	pulmonary fibrosis	Mutations in the genes encoding telomerase (TERT and TERC) cause pulmonary fibro...	BeFree,GAD,LHGDN	26016050	Detail
0.120	Reperfusion Injury	NA	CTD_human		Detail
0.004	retinoblastoma	NA	BeFree,LHGDN		Detail
<0.001	Retroviridae Infections	NA	BeFree		Detail
0.003	rhabdomyosarcoma	NA	BeFree,LHGDN		Detail
<0.001	Sickle Cell Trait	NA	BeFree		Detail
0.003	Skin Neoplasms	The regulatory mechanism and clinical significance underlying cancer-specific TE...	BeFree,GAD	25301727	Detail
<0.001	Soft Tissue Neoplasms	NA	BeFree		Detail
0.011	Stomach Neoplasms	NA	LHGDN		Detail
0.003	Tangier disease	NA	LHGDN		Detail
0.002	Testicular Neoplasms	NA	GAD		Detail
0.133	Thyroid Neoplasm	Two promoter mutations, chr5:1 295 228C>T and chr5:1 295 250C>T, in the gene for...	BeFree,CTD_human,LHGDN	25121551	Detail
0.133	Thyroid Neoplasm	In conclusion, TERT mutations were shown to strongly correlate with a poorer out...	BeFree,CTD_human,LHGDN	25448848	Detail
0.001	Thyroid Nodule	Thus, testing of TERT promoter mutations on FNAB will enhance and improve the cu...	BeFree	25121551	Detail
0.002	Tobacco use disorder	NA	GAD		Detail
<0.001	Unipolar Depression	Gene expression levels of telomerase reverse transcriptase were significantly lo...	BeFree	24967945	Detail
<0.001	Uterine Fibroids	TERT promoter mutations were absent in gastrointestinal stromal tumour (GIST), t...	BeFree	25843513	Detail
<0.001	AIDS-Associated Nephropathy	NA	BeFree		Detail
<0.001	B-Cell Lymphomas	Role of the functional MNS16A VNTR-243 variant of the human telomerase reverse t...	BeFree	25684018	Detail
<0.001	Lymphoma, Large-Cell, Follicular	NA	BeFree		Detail
<0.001	T-Cell Lymphoma	NA	BeFree		Detail
<0.001	peripheral T-cell lymphoma	NA	BeFree		Detail
<0.001	Pleural Effusion, Malignant	NA	BeFree		Detail
<0.001	severe combined immunodeficiency	NA	BeFree		Detail
<0.001	gestational diabetes	NA	BeFree		Detail
0.138	Malignant neoplasm of breast	Several TL-related single nucleotide polymorphisms had modest association with b...	BeFree	23629941	Detail
<0.001	Macrocytosis	NA	BeFree		Detail
<0.001	Chronic gastritis	NA	BeFree		Detail
0.009	breast carcinoma	Several TL-related single nucleotide polymorphisms had modest association with b...	BeFree	23629941	Detail
<0.001	Small cell carcinoma of lung	High frequency of TERT promoter mutation in small cell carcinoma of bladder, but...	BeFree	25042800	Detail
0.002	Cutaneous Melanoma	The recent identification of a high frequency of driver mutations in the promote...	BeFree	25746036	Detail
0.002	Cutaneous Melanoma	Coexistence of TERT promoter and BRAF mutations in cutaneous melanoma is associa...	BeFree	26055532	Detail
0.127	Adenocarcinoma of lung (disorder)	In this study, we found the transcriptional co-activator CBP as a new hTERT prom...	BeFree,GAD,GWASCAT	25294805	Detail
0.001	esophageal carcinoma	Sequencing techniques were used to evaluate mutational status of telomerase reve...	BeFree	24983628	Detail
0.001	esophageal carcinoma	TERT-CLPTM1L Rs401681 C>T polymorphism was associated with a decreased risk of e...	BeFree	25007268	Detail
0.001	esophageal carcinoma	The chemotherapeutic drug β-elemene suppressed the proliferation of esophageal c...	BeFree	25646744	Detail
<0.001	Malignant neoplasm of mouth	NA	BeFree		Detail
<0.001	Malignant neoplasm of nasopharynx	NA	BeFree		Detail
0.003	Malignant neoplasm of brain	NA	BeFree,GAD		Detail
<0.001	Secondary malignant neoplasm of lung	NA	BeFree		Detail
<0.001	Secondary malignant neoplasm of bone	NA	BeFree		Detail
<0.001	Exudative retinopathy	NA	BeFree		Detail
<0.001	endometriosis of ovary	NA	BeFree		Detail
0.003	Cleft palate with cleft lip	Recently, some genome-wide association studies have implicated telomerase revers...	BeFree	24861918	Detail
0.003	Cleft palate with cleft lip	Genetic polymorphisms of telomerase reverse transcriptase (TERT) and cleft lip a...	BeFree	25037574	Detail
0.003	Cleft palate with cleft lip	Telomerase reverse transcriptase (TERT) and cleft lip and palate trans-membrane ...	BeFree	25339005	Detail
0.003	Cleft palate with cleft lip	Genome-wide association studies in several ethnic groups have reported that poly...	BeFree	25966219	Detail
<0.001	Agenesis of corpus callosum	Somatic mutations in ACC-established genes and recurrent ZNRF3 and TERT loci CNA...	BeFree	25490274	Detail
0.004	Tumor Progression	The observation of TERT promotor and BRAF mutations in sporadic MPNSTs and the a...	BeFree	25035100	Detail
0.004	Tumor Progression	The finding of shorter telomeres in tumors with TERT promoter and/or FGFR3 mutat...	BeFree	25809917	Detail
0.004	Tumor Progression	We demonstrate that binding of ETS to the mutant TERT promoter is insufficient i...	BeFree	26389665	Detail
0.004	Tumor Progression	A total of 77% of areas of intermediate lesions and melanomas in situ harbored T...	BeFree	26559571	Detail
<0.001	follicular adenoma	NA	BeFree		Detail
0.121	Lung Diseases, Interstitial	NA	BeFree,GWASCAT		Detail
<0.001	hepatoblastoma	Our study demonstrates the importance of CTNNB1 mutations and NFE2L2-KEAP1 pathw...	BeFree	25135868	Detail
<0.001	Liposarcoma, Myxoid	NA	BeFree		Detail
<0.001	Fibroadenoma	Because TERT promoter mutations are rare among fibroadenomas, their detection ma...	BeFree	26355235	Detail
0.003	Rhabdomyosarcoma, Embryonal	NA	LHGDN		Detail
<0.001	hepatocellular adenoma	NA	BeFree		Detail
<0.001	Adenocarcinoma, Clear Cell	Molecular alterations in endometrial and ovarian clear cell carcinomas: clinical...	BeFree	25081752	Detail
<0.001	Follicular thyroid carcinoma	Moreover, the outcome was not different among tumors with isolated TERT mutation...	BeFree	25448848	Detail
0.120	adrenocortical carcinoma	NA	BeFree,CTD_human		Detail
0.003	Carcinoma, Endometrioid	NA	LHGDN		Detail
0.003	Carcinoma, Neuroendocrine	NA	LHGDN		Detail
0.009	cholangiocarcinoma	NA	BeFree,LHGDN		Detail
<0.001	Cervical Intraepithelial Neoplasia	Amplification of TERT and TERC genes in cervical intraepithelial neoplasia and c...	BeFree	25433838	Detail
<0.001	Cervical Intraepithelial Neoplasia	We identified TERT promoter mutations in 21 of 48 ocular surface squamous neopla...	BeFree	26348634	Detail
0.003	Neuroendocrine Tumors	NA	LHGDN		Detail
<0.001	childhood brain tumor	CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor suscepti...	BeFree	26014354	Detail
<0.001	uveal melanoma	NA	BeFree		Detail
<0.001	Lip and oral cavity carcinoma	NA	BeFree		Detail
0.003	pancreatic carcinoma	TERT promoter mutations were absent in gastrointestinal stromal tumour (GIST), t...	BeFree	25843513	Detail
0.003	pancreatic carcinoma	TERT gene harbors multiple variants associated with pancreatic cancer susceptibi...	BeFree	25940397	Detail
0.001	Gastrointestinal Stromal Tumors	Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GIS...	BeFree	25248398	Detail
0.001	Gastrointestinal Stromal Tumors	TERT promoter mutations were absent in gastrointestinal stromal tumour (GIST), t...	BeFree	25843513	Detail
<0.001	Cancer of Nasopharynx	NA	BeFree		Detail
0.002	Anaplastic thyroid carcinoma	Transcriptional activating mutations in the promoter of the telomerase reverse t...	BeFree	25583906	Detail
0.002	Anaplastic thyroid carcinoma	Association of TERT promoter mutation 1,295,228 C>T with BRAF V600E mutation, ol...	BeFree	25584719	Detail
<0.001	Medullary carcinoma of thyroid	NA	BeFree		Detail
0.002	Papillary thyroid carcinoma	Moreover, the outcome was not different among tumors with isolated TERT mutation...	BeFree	25448848	Detail
0.002	Papillary thyroid carcinoma	TERT promoter mutations are associated with distant metastases in papillary thyr...	BeFree	25583906	Detail
0.120	Disease Progression	NA	CTD_human		Detail
<0.001	Carcinoma, Lewis Lung	NA	BeFree		Detail
<0.001	Malignant Meningioma	NA	BeFree		Detail
<0.001	Multiple tumors	Recurrent TERT promoter mutations identified in a large-scale study of multiple ...	BeFree	25843513	Detail
<0.001	Carcinoma, Small Cell	High frequency of TERT promoter mutation in small cell carcinoma of bladder, but...	BeFree	25042800	Detail
0.264	dyskeratosis congenita	Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and s...	BeFree,CTD_human,GAD,LHGDN,ORPHANET	25237198	Detail
<0.001	Renal glomerular disease	NA	BeFree		Detail
<0.001	Acquired aplastic anemia	Detection of mutations in the genes for telomerase reverse transcriptase (TERT) ...	BeFree	25906515	Detail
<0.001	Chronic viral hepatitis	NA	BeFree		Detail
<0.001	Metastatic melanoma	BRAF mutation and CDKN2A loss occurred early and TERT promoter mutation later in...	BeFree	25407517	Detail
<0.001	Liver and Intrahepatic Biliary Tract Carcinoma	TERT promoter is one of most frequent mutational targets in liver cancer, and he...	BeFree	25574106	Detail
<0.001	Adenocarcinoma Of Esophagus	NA	BeFree		Detail
<0.001	Conventional (Clear Cell) Renal Cell Carcinoma	TERT promoter mutations in clear cell renal cell carcinoma.	BeFree	25331263	Detail
<0.001	endometrial clear cell adenocarcinoma	We found that TERT promoter mutations were present in 21% (3/14) of endometrial ...	BeFree	25081752	Detail
<0.001	Solid tumour	NA	BeFree		Detail
0.001	laryngeal squamous cell carcinoma	NA	BeFree		Detail
<0.001	mixed oligodendroglioma-astrocytoma	The aim of this study is to evaluate the status of TERT promoter and the respect...	BeFree	25081751	Detail
<0.001	Adenocarcinoma of pancreas	NA	BeFree		Detail
0.004	cervix carcinoma	Amplification of TERT and TERC genes in cervical intraepithelial neoplasia and c...	BeFree	25433838	Detail
<0.001	Superficial ulcer	NA	BeFree		Detail
<0.001	Tumor necrosis	NA	BeFree		Detail
<0.001	High-Grade Squamous Intraepithelial Lesions	NA	BeFree		Detail
<0.001	Clear cell sarcoma of kidney	Activation of human telomerase reverse transcriptase through gene fusion in clea...	BeFree	25481751	Detail
0.001	anaplastic oligodendroglioma	Infiltrating astrocytomas and secondary GBMs are characterized by IDH, TP53, and...	BeFree	25461780	Detail
0.001	anaplastic oligodendroglioma	TERT promoter mutations are also noted in LGG and are mainly associated with oli...	BeFree	25664944	Detail
0.001	anaplastic oligodendroglioma	Causal genetic changes in oligodendrogliomas (OD) with 1p/19q co-deletion includ...	BeFree	25694352	Detail
0.001	anaplastic oligodendroglioma	TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial...	BeFree	25843513	Detail
<0.001	meningothelial meningioma	NA	BeFree		Detail
<0.001	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	NA	BeFree		Detail
<0.001	Chronic liver disease	NA	BeFree		Detail
<0.001	Human papilloma virus infection	NA	BeFree		Detail
<0.001	Malignant neoplasm of liver	TERT promoter is one of most frequent mutational targets in liver cancer, and he...	BeFree	25574106	Detail
<0.001	Benign neoplasm of breast	NA	BeFree		Detail
<0.001	Malignant melanoma of conjunctiva	NA	BeFree		Detail
0.001	Multiple malignancy	Point mutations in the telomerase reverse transcriptase (TERT) gene promoter occ...	BeFree	25722414	Detail
0.001	Multiple malignancy	GABP thus directly links TERT promoter mutations to aberrant expression in multi...	BeFree	25977370	Detail
0.123	Malignant neoplasm of pancreas	TERT promoter mutations were absent in gastrointestinal stromal tumour (GIST), t...	BeFree,GWASCAT	25843513	Detail
0.123	Malignant neoplasm of pancreas	TERT gene harbors multiple variants associated with pancreatic cancer susceptibi...	BeFree,GWASCAT	25940397	Detail
0.120	Aplastic anemia, idiopathic	NA	ORPHANET		Detail
<0.001	Splenic Marginal Zone B-Cell Lymphoma	NA	BeFree		Detail
<0.001	Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site	NA	BeFree		Detail
<0.001	Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site	NA	BeFree		Detail
<0.001	Malignant neoplasm of vulva	NA	BeFree		Detail
<0.001	Hematopoietic Neoplasms	NA	BeFree		Detail
<0.001	Nijmegen breakage syndrome	NA	BeFree		Detail
<0.001	Non-alcoholic Fatty Liver Disease	Recently, rare loss-of-function mutations in Apolipoprotein B resulting in very ...	BeFree	25278690	Detail
<0.001	Anaplastic Oligoastrocytoma	Mutually exclusive mutations in TERT promoter, C228T and C250T, were identified ...	BeFree	25081751	Detail
<0.001	Follicular neoplasm	NA	BeFree		Detail
<0.001	endometrial carcinoma	NA	BeFree		Detail
<0.001	Recurrent tumor	NA	BeFree		Detail
0.001	Malignant neoplasm of esophagus	Sequencing techniques were used to evaluate mutational status of telomerase reve...	BeFree	24983628	Detail
0.001	Malignant neoplasm of esophagus	TERT-CLPTM1L Rs401681 C>T polymorphism was associated with a decreased risk of e...	BeFree	25007268	Detail
0.004	Thyroid carcinoma	Thus, testing of TERT promoter mutations on FNAB will enhance and improve the cu...	BeFree	25121551	Detail
0.004	Thyroid carcinoma	TERT protein was found to be more expressed in neoplastic than in normal tissues...	BeFree	25448848	Detail
0.003	Malignant glioma	Glial fibrillary acidic protein promoters direct adenovirus early 1A gene and hu...	BeFree	25410753	Detail
<0.001	Osteosarcoma of bone	NA	BeFree		Detail
<0.001	Carcinoma of larynx	microRNA‑299‑3p inhibits laryngeal cancer cell growth by targeting human telomer...	BeFree	25634687	Detail
0.013	Carcinogenesis	Telomerase activation through the induction of its catalytic component TERT is e...	BeFree	25301727	Detail
0.013	Carcinogenesis	TERT promoter is one of most frequent mutational targets in liver cancer, and he...	BeFree	25574106	Detail
0.013	Carcinogenesis	In humans, telomerase reverse transcriptase (hTERT) determines the activity of t...	BeFree	25662441	Detail
0.013	Carcinogenesis	Based on these data, we conclude that reactivation of TERT, a direct transcripti...	BeFree	25893605	Detail
0.013	Carcinogenesis	Analyses of the TERT locus have indicated that non-coding regulatory mutations c...	BeFree	25934800	Detail
0.013	Carcinogenesis	Our findings highlight a previously unrecognized role of non-canonical NF-κB sig...	BeFree	26389665	Detail
<0.001	hyperhomocysteinemia	NA	BeFree		Detail
<0.001	Leukemogenesis	NA	BeFree		Detail
<0.001	Hashimoto Disease	NA	BeFree		Detail
0.121	Epithelial ovarian cancer	NA	BeFree,GWASCAT		Detail
0.001	Secondary malignant neoplasm of lymph node	NA	BeFree		Detail
<0.001	Parathyroid Gland Adenocarcinoma	NA	BeFree		Detail
0.002	colon carcinoma	NA	BeFree		Detail
0.005	stomach carcinoma	These data indicate that miR-1182 suppresses TERT, and thus it could be an effec...	BeFree	25662441	Detail
0.007	Carcinoma of bladder	Further clinical confounding factor, namely, tumor grade/stage level of cases, s...	BeFree	25218484	Detail
0.007	Carcinoma of bladder	This study is the first to identify frequent BAP1 and BRCA pathway alterations i...	BeFree	25225064	Detail
0.007	Carcinoma of bladder	TERT promoter C228T and C250T mutations occur in various malignancies including ...	BeFree	25474136	Detail
0.007	Carcinoma of bladder	TERT promoter mutations and TERT mRNA but not FGFR3 mutations are urinary biomar...	BeFree	25657201	Detail
0.007	Carcinoma of bladder	The activity of the mutant hTERT promoter detected by luciferase assay was about...	BeFree	25775949	Detail
0.007	Carcinoma of bladder	Mutations in TERT promoter and FGFR3 and telomere length in bladder cancer.	BeFree	25809917	Detail
<0.001	skin carcinoma	NA	BeFree		Detail
0.001	Central neuroblastoma	NA	BeFree		Detail
<0.001	Adrenal Cancer	NA	BeFree		Detail
<0.001	Idiopathic Inflammatory Myopathies	Our objective was to better understand the roles of single nucleotide polymorphi...	BeFree	26320593	Detail
0.001	Well Differentiated Oligodendroglioma	Infiltrating astrocytomas and secondary GBMs are characterized by IDH, TP53, and...	BeFree	25461780	Detail
0.001	Well Differentiated Oligodendroglioma	TERT promoter mutations are also noted in LGG and are mainly associated with oli...	BeFree	25664944	Detail
0.001	Well Differentiated Oligodendroglioma	Causal genetic changes in oligodendrogliomas (OD) with 1p/19q co-deletion includ...	BeFree	25694352	Detail
0.001	Well Differentiated Oligodendroglioma	TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial...	BeFree	25843513	Detail
<0.001	Genitourinary Cancer	NA	BeFree		Detail
<0.001	malignant peripheral nerve sheath tumor	TERT promoter mutations and BRAF mutations are rare in sporadic, and TERT promot...	BeFree	25035100	Detail
<0.001	Chromosome 10, monosomy 10q	NA	BeFree		Detail
<0.001	malignant pleural mesothelioma	NA	BeFree		Detail
<0.001	Oestrogen deficiency	NA	BeFree		Detail
0.120	Testicular malignant germ cell tumor	NA	BeFree,GWASCAT		Detail
<0.001	Advanced cancer	NA	BeFree		Detail
0.123	ovarian neoplasm	NA	CTD_human,LHGDN		Detail
<0.001	autoimmune thyroiditis	NA	BeFree		Detail
<0.001	Metastatic Prostate Carcinoma	NA	BeFree		Detail
0.002	precancerous lesions	NA	BeFree		Detail
<0.001	Polyp of large intestine	NA	BeFree		Detail
<0.001	Hurthle Cell Tumor	NA	BeFree		Detail
0.003	Papillomavirus Infections	NA	LHGDN		Detail
0.006	Malignant neoplasm of ovary	In this report, we used transfection screening to test interactions among 14 TER...	BeFree,GAD	24550717	Detail
<0.001	Squamous cell carcinoma of the head and neck	NA	BeFree		Detail
0.004	sarcoma	NA	BeFree,LHGDN		Detail
<0.001	major depressive disorder	Gene expression levels of telomerase reverse transcriptase were significantly lo...	BeFree	24967945	Detail
<0.001	Necrotic tumor	NA	BeFree		Detail
<0.001	Low Grade Squamous Intraepithelial Neoplasia	NA	BeFree		Detail
<0.001	Nicolaides Baraitser syndrome	NA	BeFree		Detail
<0.001	Atypical Adenomatous Lung Hyperplasia	NA	BeFree		Detail
<0.001	pancreatic ductal adenocarcinoma	NA	BeFree		Detail
<0.001	Carcinoma of urinary bladder, superficial	NA	BeFree		Detail
<0.001	Testicular Germ Cell Tumor	NA	BeFree		Detail
<0.001	Epithelioma	TERT promoter mutations were absent in gastrointestinal stromal tumour (GIST), t...	BeFree	25843513	Detail
0.149	Mammary Neoplasms	NA	BeFree,CTD_human,LHGDN		Detail
<0.001	grade I meningioma	NA	BeFree		Detail
<0.001	Hepatocarcinogenesis	NA	BeFree		Detail
<0.001	Hereditary Melanoma	NA	BeFree		Detail
<0.001	Primary Glioblastoma	TERT promoter mutations: a novel independent prognostic factor in primary gliobl...	BeFree	25140036	Detail
<0.001	Tumor Immunity	NA	BeFree		Detail
<0.001	Xenograft Model	NA	BeFree		Detail
0.003	colorectal cancer	We studied the regulation of telomerase and telomerase reverse transcriptase cat...	BeFree	25744732	Detail
0.003	colorectal cancer	A survival analysis was performed to assess the prognostic significance of hTERT...	BeFree	25845814	Detail
<0.001	Glioblastoma multiforme	We detected specific (-124 C>T and -146 C>T) TERT promoter mutations in 143/178 ...	BeFree	25140036	Detail
<0.001	Cirrhosis	NA	BeFree		Detail
<0.001	Basaloid carcinoma	NA	BeFree		Detail
0.001	Non-Neoplastic Disorder	Neither of SCC from all other origins nor matched non-neoplastic tissue contains...	BeFree	25042800	Detail
0.001	Meningioma, benign, no ICD-O subtype	ARID1A and TERT promoter mutations in dedifferentiated meningioma.	BeFree	25963524	Detail
0.493	Idiopathic Pulmonary Fibrosis	Mutations in telomerase complex genes (TERT or TERC) and short telomeres are gen...	BeFree,CLINVAR,CTD_human,GAD,GWASCAT,LHGDN,ORPHANET	24993703	Detail
0.241	Hoyeraal-Hreidarsson syndrome	NA	BeFree,CTD_human,ORPHANET		Detail
<0.001	ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1	It was also shown by flow cytometry that, compared with the scramble-treated gro...	BeFree	25646744	Detail
<0.001	Prostate Cancer, Hereditary, 7	Association of genetic polymorphisms in the telomerase reverse transcriptase gen...	BeFree	25738283	Detail
<0.001	uterine corpus cancer	NA	BeFree		Detail
0.122	coronary artery disease	NA	CTD_human,GAD		Detail
<0.001	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	NA	BeFree		Detail
0.006	Precursor Cell Lymphoblastic Leukemia Lymphoma	NA	BeFree,LHGDN		Detail
<0.001	low grade glioma	TERT promoter mutations are also noted in LGG and are mainly associated with oli...	BeFree	25664944	Detail
0.002	Urothelial Carcinoma	Despite the frequent occurrence of TERT promoter mutations in urothelial carcino...	BeFree	25042800	Detail
0.002	Urothelial Carcinoma	TERT promoter mutations are associated with distant metastases in upper tract ur...	BeFree	25474136	Detail
0.002	Urothelial Carcinoma	Mutations in the promoter of the telomerase reverse transcriptase (TERT) and fib...	BeFree	25809917	Detail
0.002	Urothelial Carcinoma	TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial...	BeFree	25843513	Detail
0.157	liver carcinoma	Human telomerase reverse transcriptase messenger RNA (TERT mRNA) as a tumour mar...	BeFree,CTD_human,LHGDN	25097049	Detail
0.157	liver carcinoma	Our study demonstrates the importance of CTNNB1 mutations and NFE2L2-KEAP1 pathw...	BeFree,CTD_human,LHGDN	25135868	Detail
0.157	liver carcinoma	Although the TERT gene is mutated in HCC, the role of this mutation remains to b...	BeFree,CTD_human,LHGDN	25259908	Detail
0.157	liver carcinoma	Recently, rare loss-of-function mutations in Apolipoprotein B resulting in very ...	BeFree,CTD_human,LHGDN	25278690	Detail
0.157	liver carcinoma	Polymorphisms of TERT and CLPTM1L and the risk of hepatocellular carcinoma in Ch...	BeFree,CTD_human,LHGDN	25339005	Detail
0.157	liver carcinoma	In conclusion, these findings showed that combination HSV1-TK/hTERT gene therapy...	BeFree,CTD_human,LHGDN	25572283	Detail
0.157	liver carcinoma	Common telomerase reverse transcriptase promoter mutations in hepatocellular car...	BeFree,CTD_human,LHGDN	25574106	Detail
0.157	liver carcinoma	In our study, we tested a matrix metalloproteinase-2 (MPP2) aCPP in delivering h...	BeFree,CTD_human,LHGDN	25671640	Detail
0.157	liver carcinoma	TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial...	BeFree,CTD_human,LHGDN	25843513	Detail
<0.001	Promyelocytic leukemia	NA	BeFree		Detail
<0.001	Bone Marrow failure syndromes	NA	BeFree		Detail
0.001	Nasopharyngeal carcinoma	NA	BeFree		Detail
<0.001	Peri-Implantitis	Finally, the human telomerase reverse transcriptase immortalized cell line from ...	BeFree	25406169	Detail
<0.001	myeloid neoplasm	NA	BeFree		Detail
<0.001	Inherited bone marrow failure syndrome	NA	BeFree		Detail
<0.001	Primary acquired melanosis	NA	BeFree		Detail
<0.001	Gastric Schwannoma	Thymic epithelial tumours, gastrointestinal leiomyoma, and gastric schwannoma we...	BeFree	25843513	Detail
<0.001	Well Differentiated Hepatocellular Carcinoma	NA	BeFree		Detail
<0.001	myelodysplastic syndrome	NA	BeFree		Detail
<0.001	Homocysteinemia	NA	BeFree		Detail
<0.001	Dyskeratosis Congenita, Autosomal Recessive	NA	BeFree		Detail
0.120	Melanoma, cutaneous malignant, susceptibility to, 9	NA	CLINVAR		Detail
0.005	Infection	NA	LHGDN		Detail
0.004	adenoma	NA	BeFree,LHGDN		Detail
<0.001	Adenovirus Infections	NA	BeFree		Detail
<0.001	Adrenal Gland Neoplasms	NA	BeFree		Detail
<0.001	Alzheimer's disease	The role of telomerase protein TERT in Alzheimer's disease and in tau-related pa...	BeFree	25632141	Detail
<0.001	ameloblastoma	NA	BeFree		Detail
<0.001	Amputation Stumps	NA	BeFree		Detail
<0.001	Anaplasia	TP53 mutations, which result in its overexpression, in combination with TERT pro...	BeFree	25582503	Detail
0.003	anemia	NA	LHGDN		Detail
<0.001	Cooley's anemia	NA	BeFree		Detail
<0.001	Refractory anemias	NA	BeFree		Detail
0.005	Anoxia	NA	LHGDN		Detail
<0.001	arteriosclerosis	Sequence variation in telomerase reverse transcriptase (TERT) as a determinant o...	BeFree	26201603	Detail
0.003	rheumatoid arthritis	NA	BeFree,LHGDN		Detail
0.002	asthma	NA	GAD		Detail
<0.001	Astrocytoma	NA	BeFree		Detail
0.003	ataxia telangiectasia	NA	LHGDN		Detail
0.004	atherosclerosis	Sequence variation in telomerase reverse transcriptase (TERT) as a determinant o...	BeFree,LHGDN	26201603	Detail
<0.001	Autoimmune Diseases	NA	BeFree		Detail
<0.001	Melanoma, B16	NA	BeFree		Detail
<0.001	Basal Cell Nevus Syndrome	NA	BeFree		Detail
0.003	beta thalassemia	NA	LHGDN		Detail
0.012	Malignant neoplasm of urinary bladder	Further clinical confounding factor, namely, tumor grade/stage level of cases, s...	BeFree,GAD	25218484	Detail
0.012	Malignant neoplasm of urinary bladder	This study is the first to identify frequent BAP1 and BRCA pathway alterations i...	BeFree,GAD	25225064	Detail
0.012	Malignant neoplasm of urinary bladder	TERT promoter C228T and C250T mutations occur in various malignancies including ...	BeFree,GAD	25474136	Detail
0.012	Malignant neoplasm of urinary bladder	TERT promoter mutations and TERT mRNA but not FGFR3 mutations are urinary biomar...	BeFree,GAD	25657201	Detail
0.012	Malignant neoplasm of urinary bladder	The activity of the mutant hTERT promoter detected by luciferase assay was about...	BeFree,GAD	25775949	Detail
0.012	Malignant neoplasm of urinary bladder	Mutations in TERT promoter and FGFR3 and telomere length in bladder cancer.	BeFree,GAD	25809917	Detail
0.134	Bladder Neoplasm	NA	BeFree,CTD_human,LHGDN		Detail
0.005	Bone Marrow Diseases	NA	GAD		Detail
0.012	Brain Neoplasms	TERT promoter mutations were detected in 101 glioma samples (grades I-IV) and 49...	BeFree,GAD,LHGDN	24937153	Detail
0.006	Carcinoid Tumor	NA	BeFree,LHGDN		Detail
0.001	Malignant tumor of colon	NA	BeFree		Detail
<0.001	Malignant neoplasm of endometrium	NA	BeFree		Detail
<0.001	Malignant neoplasm of larynx	microRNA‑299‑3p inhibits laryngeal cancer cell growth by targeting human telomer...	BeFree	25634687	Detail
<0.001	Rectal Carcinoma	NA	BeFree		Detail
<0.001	Malignant neoplasm of skin	NA	BeFree		Detail
0.002	Malignant neoplasm of thyroid	Thus, testing of TERT promoter mutations on FNAB will enhance and improve the cu...	BeFree	25121551	Detail
0.002	Malignant neoplasm of thyroid	TERT protein was found to be more expressed in neoplastic than in normal tissues...	BeFree	25448848	Detail
0.122	basal cell carcinoma	NA	CTD_human,GAD		Detail
0.003	Noninfiltrating Intraductal Carcinoma	NA	BeFree,LHGDN		Detail
<0.001	Merkel cell carcinoma	TERT promoter mutations and gene amplification: promoting TERT expression in Mer...	BeFree	25301727	Detail
0.128	Non-small cell lung carcinoma	We have further confirmed that TERT promoter mutation may only exist in a very s...	BeFree,CTD_human,GAD	25198510	Detail
0.128	Non-small cell lung carcinoma	Recurrent TERT promoter mutations in non-small cell lung cancers.	BeFree,CTD_human,GAD	25456736	Detail
<0.001	Carcinoma, Papillary	NA	BeFree		Detail
0.007	renal cell carcinoma	NA	BeFree,LHGDN		Detail

Annotation

Annotations

Descrption	Source	Links
However, the joint effect of TERT and CLPTM1L variants increased the risk of lung cancer, especially...	DisGeNET	Detail
Five of the 24 tumors (all SCC) showed the C228T mutation in the TERT promoter.	DisGeNET	Detail
We identified TERT promoter mutations in 21 of 48 ocular surface squamous neoplasia samples (43.8%),...	DisGeNET	Detail
Despite the frequent occurrence of TERT promoter mutations in urothelial carcinoma, the incidence of...	DisGeNET	Detail
TERT promoter mutations are associated with distant metastases in upper tract urothelial carcinomas ...	DisGeNET	Detail
Mutations in the promoter of the telomerase reverse transcriptase (TERT) and fibroblast growth facto...	DisGeNET	Detail
TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial carcinoma (64.5%), ...	DisGeNET	Detail
Sequence variation in telomerase reverse transcriptase (TERT) as a determinant of risk of cardiovasc...	DisGeNET	Detail
NA	DisGeNET	Detail
Amplification of TERT and TERC genes in cervical intraepithelial neoplasia and cervical cancer.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We studied the regulation of telomerase and telomerase reverse transcriptase catalytic subunit (TERT...	DisGeNET	Detail
A survival analysis was performed to assess the prognostic significance of hTERT-targeting miRNAs in...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
TERT promoter mutations are frequent and show association with MED12 mutations in phyllodes tumors o...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Sequencing techniques were used to evaluate mutational status of telomerase reverse transcriptase (T...	DisGeNET	Detail
TERT-CLPTM1L Rs401681 C>T polymorphism was associated with a decreased risk of esophageal cancer in ...	DisGeNET	Detail
NA	DisGeNET	Detail
Mutations lead to TERT upregulation and are associated with aggressive clinical behavior in glioblas...	DisGeNET	Detail
Patients with IDH1/2 wild-type gliomas and glioblastoma-like genomic alterations, including gain on ...	DisGeNET	Detail
TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial carcinoma (64.5%), ...	DisGeNET	Detail
Multiple cancer types, including up to 83% of glioblastomas (GBMs), harbor highly recurrent TERT pro...	DisGeNET	Detail
TERT promoter mutations lead to high transcriptional activity under hypoxia and temozolomide treatme...	DisGeNET	Detail
Hot spot mutations in the promoter region of telomerase reverse transcriptase (TERT promoter mutatio...	DisGeNET	Detail
TERT promoter mutations contribute to subset prognostication of lower-grade gliomas.	DisGeNET	Detail
Intermediate survival was seen in patients with IDH1/2 mutant, but 1p/19q intact, mostly astrocytic ...	DisGeNET	Detail
TERT promoter mutations highly correlated with upregulated TERT mRNA expression and telomerase activ...	DisGeNET	Detail
We highlight the genetic aberrations recently discovered in isocitrate dehydrogenase, alpha thalasse...	DisGeNET	Detail
The mean age at diagnosis was lowest (37 years) among patients who had gliomas with only IDH mutatio...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Forty-seven angiosarcomas were tested for TERT promoter mutation.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Besides frequent hepatitis B virus integrations at TERT, we identify translocations at the boundarie...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
In conclusion, gene therapy with IL-18 and HSV-TK plasmid vector driven by the hTERT promoter may be...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Chronic imetelstat treatment reduced hypoxia-induced PH in wild-type mice or partially reversed esta...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
TERT activity (TERT mRNA expression) was significantly positively correlated with the observed incre...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
TERT promoter mutations were absent in gastrointestinal stromal tumour (GIST), thymic epithelial tum...	DisGeNET	Detail
In this study, we found that cordycepin-induced apoptosis of human leukemia cells (H937 and THP-1 ce...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
5-aza-2'-deoxycytidine-mediated c-myc Down-regulation triggers telomere-dependent senescence by regu...	DisGeNET	Detail
Taken together, our findings suggest the importance of hTERT as a valuable molecular marker in the f...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Patients with documented TERT or TR mutations who received a lung transplant between 2007 and 2013 i...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Genetic variation within the hTERT gene may affect the progression and treatment of lymphoproliferat...	DisGeNET	Detail
These data indicate that miR-1182 suppresses TERT, and thus it could be an effective target for the ...	DisGeNET	Detail
TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial carcinoma (64.5%), ...	DisGeNET	Detail
In melanoma a correlation has been suggested between the occurrence of TERT promoter mutations and v...	DisGeNET	Detail
TERT promoter mutations were recently discovered in melanoma by next generation sequencing.	DisGeNET	Detail
Alterations in pathways including BRAF, CDKN2A, and TERT contribute to the development of melanoma, ...	DisGeNET	Detail
A melanoma-associated molecular pathway was identified, where Ran, Aurora Kinase A (AurkA) and TERT ...	DisGeNET	Detail
TERT promoter mutations in sinonasal malignant melanoma: a study of 49 cases.	DisGeNET	Detail
We observed statistically significant associations with melanoma for two lung cancer SNPs in the TER...	DisGeNET	Detail
Coexistence of TERT promoter and BRAF mutations in cutaneous melanoma is associated with more clinic...	DisGeNET	Detail
A total of 77% of areas of intermediate lesions and melanomas in situ harbored TERT promoter mutatio...	DisGeNET	Detail
NA	DisGeNET	Detail
ARID1A and TERT promoter mutations in dedifferentiated meningioma.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
TERT promoter mutations are associated with distant metastases in upper tract urothelial carcinomas ...	DisGeNET	Detail
TERT promoter mutations are associated with distant metastases in papillary thyroid carcinoma.	DisGeNET	Detail
Association of TERT promoter mutation 1,295,228 C>T with BRAF V600E mutation, older patient age, and...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Infiltrating astrocytomas and secondary GBMs are characterized by IDH, TP53, and ATRX mutations, whe...	DisGeNET	Detail
TERT promoter mutations are also noted in LGG and are mainly associated with oligodendrogliomas.	DisGeNET	Detail
Causal genetic changes in oligodendrogliomas (OD) with 1p/19q co-deletion include mutations in IDH1,...	DisGeNET	Detail
TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial carcinoma (64.5%), ...	DisGeNET	Detail
NA	DisGeNET	Detail
In this report, we used transfection screening to test interactions among 14 TERT regulatory transcr...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Mutations in the essential telomerase genes TERT and TR cause familial pulmonary fibrosis; however, ...	DisGeNET	Detail
However, similar to affected individuals in this family, we identified a history of male and female ...	DisGeNET	Detail
Mutations in the essential telomerase genes TERT and TR cause familial pulmonary fibrosis; however, ...	DisGeNET	Detail
There were 9 patients (7 men) with TERT (n = 6) or TR (n = 3) mutations who received a single (n = 8...	DisGeNET	Detail
Mutations in the genes encoding telomerase (TERT and TERC) cause pulmonary fibrosis through low telo...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
The regulatory mechanism and clinical significance underlying cancer-specific TERT expression have b...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Two promoter mutations, chr5:1 295 228C>T and chr5:1 295 250C>T, in the gene for telomerase reverse ...	DisGeNET	Detail
In conclusion, TERT mutations were shown to strongly correlate with a poorer outcome in differentiat...	DisGeNET	Detail
Thus, testing of TERT promoter mutations on FNAB will enhance and improve the current molecular-base...	DisGeNET	Detail
NA	DisGeNET	Detail
Gene expression levels of telomerase reverse transcriptase were significantly lower in white matter ...	DisGeNET	Detail
TERT promoter mutations were absent in gastrointestinal stromal tumour (GIST), thymic epithelial tum...	DisGeNET	Detail
NA	DisGeNET	Detail
Role of the functional MNS16A VNTR-243 variant of the human telomerase reverse transcriptase gene in...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov...	DisGeNET	Detail
High frequency of TERT promoter mutation in small cell carcinoma of bladder, but not in small cell c...	DisGeNET	Detail
The recent identification of a high frequency of driver mutations in the promoter of the telomerase ...	DisGeNET	Detail
Coexistence of TERT promoter and BRAF mutations in cutaneous melanoma is associated with more clinic...	DisGeNET	Detail
In this study, we found the transcriptional co-activator CBP as a new hTERT promoter-binding protein...	DisGeNET	Detail
Sequencing techniques were used to evaluate mutational status of telomerase reverse transcriptase (T...	DisGeNET	Detail
TERT-CLPTM1L Rs401681 C>T polymorphism was associated with a decreased risk of esophageal cancer in ...	DisGeNET	Detail
The chemotherapeutic drug β-elemene suppressed the proliferation of esophageal carcinoma ECA-109 cel...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Recently, some genome-wide association studies have implicated telomerase reverse transcriptase (TER...	DisGeNET	Detail
Genetic polymorphisms of telomerase reverse transcriptase (TERT) and cleft lip and palate transmembr...	DisGeNET	Detail
Telomerase reverse transcriptase (TERT) and cleft lip and palate trans-membrane 1 like (CLPTM1L) gen...	DisGeNET	Detail
Genome-wide association studies in several ethnic groups have reported that polymorphisms of the tel...	DisGeNET	Detail
Somatic mutations in ACC-established genes and recurrent ZNRF3 and TERT loci CNAs were mutually excl...	DisGeNET	Detail
The observation of TERT promotor and BRAF mutations in sporadic MPNSTs and the absence of TERT promo...	DisGeNET	Detail
The finding of shorter telomeres in tumors with TERT promoter and/or FGFR3 mutations than without mu...	DisGeNET	Detail
We demonstrate that binding of ETS to the mutant TERT promoter is insufficient in driving its transc...	DisGeNET	Detail
A total of 77% of areas of intermediate lesions and melanomas in situ harbored TERT promoter mutatio...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Our study demonstrates the importance of CTNNB1 mutations and NFE2L2-KEAP1 pathway activation in HB ...	DisGeNET	Detail
NA	DisGeNET	Detail
Because TERT promoter mutations are rare among fibroadenomas, their detection may be of potential us...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Molecular alterations in endometrial and ovarian clear cell carcinomas: clinical impacts of telomera...	DisGeNET	Detail
Moreover, the outcome was not different among tumors with isolated TERT mutation and those with coex...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Amplification of TERT and TERC genes in cervical intraepithelial neoplasia and cervical cancer.	DisGeNET	Detail
We identified TERT promoter mutations in 21 of 48 ocular surface squamous neoplasia samples (43.8%),...	DisGeNET	Detail
NA	DisGeNET	Detail
CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
TERT promoter mutations were absent in gastrointestinal stromal tumour (GIST), thymic epithelial tum...	DisGeNET	Detail
TERT gene harbors multiple variants associated with pancreatic cancer susceptibility.	DisGeNET	Detail
Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GISTs).	DisGeNET	Detail
TERT promoter mutations were absent in gastrointestinal stromal tumour (GIST), thymic epithelial tum...	DisGeNET	Detail
NA	DisGeNET	Detail
Transcriptional activating mutations in the promoter of the telomerase reverse transcriptase (TERT) ...	DisGeNET	Detail
Association of TERT promoter mutation 1,295,228 C>T with BRAF V600E mutation, older patient age, and...	DisGeNET	Detail
NA	DisGeNET	Detail
Moreover, the outcome was not different among tumors with isolated TERT mutation and those with coex...	DisGeNET	Detail
TERT promoter mutations are associated with distant metastases in papillary thyroid carcinoma.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are ass...	DisGeNET	Detail
High frequency of TERT promoter mutation in small cell carcinoma of bladder, but not in small cell c...	DisGeNET	Detail
Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and severe recessive chil...	DisGeNET	Detail
NA	DisGeNET	Detail
Detection of mutations in the genes for telomerase reverse transcriptase (TERT) in patients of appar...	DisGeNET	Detail
NA	DisGeNET	Detail
BRAF mutation and CDKN2A loss occurred early and TERT promoter mutation later in a case of lethal me...	DisGeNET	Detail
TERT promoter is one of most frequent mutational targets in liver cancer, and hepatocellular carcino...	DisGeNET	Detail
NA	DisGeNET	Detail
TERT promoter mutations in clear cell renal cell carcinoma.	DisGeNET	Detail
We found that TERT promoter mutations were present in 21% (3/14) of endometrial clear cell carcinoma...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
The aim of this study is to evaluate the status of TERT promoter and the respective prognostic signi...	DisGeNET	Detail
NA	DisGeNET	Detail
Amplification of TERT and TERC genes in cervical intraepithelial neoplasia and cervical cancer.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Activation of human telomerase reverse transcriptase through gene fusion in clear cell sarcoma of th...	DisGeNET	Detail
Infiltrating astrocytomas and secondary GBMs are characterized by IDH, TP53, and ATRX mutations, whe...	DisGeNET	Detail
TERT promoter mutations are also noted in LGG and are mainly associated with oligodendrogliomas.	DisGeNET	Detail
Causal genetic changes in oligodendrogliomas (OD) with 1p/19q co-deletion include mutations in IDH1,...	DisGeNET	Detail
TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial carcinoma (64.5%), ...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
TERT promoter is one of most frequent mutational targets in liver cancer, and hepatocellular carcino...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Point mutations in the telomerase reverse transcriptase (TERT) gene promoter occur at high frequency...	DisGeNET	Detail
GABP thus directly links TERT promoter mutations to aberrant expression in multiple cancers.	DisGeNET	Detail
TERT promoter mutations were absent in gastrointestinal stromal tumour (GIST), thymic epithelial tum...	DisGeNET	Detail
TERT gene harbors multiple variants associated with pancreatic cancer susceptibility.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Recently, rare loss-of-function mutations in Apolipoprotein B resulting in very low density lipoprot...	DisGeNET	Detail
Mutually exclusive mutations in TERT promoter, C228T and C250T, were identified in 16/105 (15%) diff...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Sequencing techniques were used to evaluate mutational status of telomerase reverse transcriptase (T...	DisGeNET	Detail
TERT-CLPTM1L Rs401681 C>T polymorphism was associated with a decreased risk of esophageal cancer in ...	DisGeNET	Detail
Thus, testing of TERT promoter mutations on FNAB will enhance and improve the current molecular-base...	DisGeNET	Detail
TERT protein was found to be more expressed in neoplastic than in normal tissues, and to display a d...	DisGeNET	Detail
Glial fibrillary acidic protein promoters direct adenovirus early 1A gene and human telomerase rever...	DisGeNET	Detail
NA	DisGeNET	Detail
microRNA‑299‑3p inhibits laryngeal cancer cell growth by targeting human telomerase reverse transcri...	DisGeNET	Detail
Telomerase activation through the induction of its catalytic component TERT is essential in carcinog...	DisGeNET	Detail
TERT promoter is one of most frequent mutational targets in liver cancer, and hepatocellular carcino...	DisGeNET	Detail
In humans, telomerase reverse transcriptase (hTERT) determines the activity of telomerase. hTERT is ...	DisGeNET	Detail
Based on these data, we conclude that reactivation of TERT, a direct transcriptional MYC target in t...	DisGeNET	Detail
Analyses of the TERT locus have indicated that non-coding regulatory mutations can be more frequent ...	DisGeNET	Detail
Our findings highlight a previously unrecognized role of non-canonical NF-κB signalling in tumorigen...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
These data indicate that miR-1182 suppresses TERT, and thus it could be an effective target for the ...	DisGeNET	Detail
Further clinical confounding factor, namely, tumor grade/stage level of cases, supports the genotypi...	DisGeNET	Detail
This study is the first to identify frequent BAP1 and BRCA pathway alterations in bladder cancer, sh...	DisGeNET	Detail
TERT promoter C228T and C250T mutations occur in various malignancies including bladder cancer (BC) ...	DisGeNET	Detail
TERT promoter mutations and TERT mRNA but not FGFR3 mutations are urinary biomarkers in Han Chinese ...	DisGeNET	Detail
The activity of the mutant hTERT promoter detected by luciferase assay was about three times as larg...	DisGeNET	Detail
Mutations in TERT promoter and FGFR3 and telomere length in bladder cancer.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Our objective was to better understand the roles of single nucleotide polymorphisms (SNPs) in the CC...	DisGeNET	Detail
Infiltrating astrocytomas and secondary GBMs are characterized by IDH, TP53, and ATRX mutations, whe...	DisGeNET	Detail
TERT promoter mutations are also noted in LGG and are mainly associated with oligodendrogliomas.	DisGeNET	Detail
Causal genetic changes in oligodendrogliomas (OD) with 1p/19q co-deletion include mutations in IDH1,...	DisGeNET	Detail
TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial carcinoma (64.5%), ...	DisGeNET	Detail
NA	DisGeNET	Detail
TERT promoter mutations and BRAF mutations are rare in sporadic, and TERT promoter mutations are abs...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
In this report, we used transfection screening to test interactions among 14 TERT regulatory transcr...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Gene expression levels of telomerase reverse transcriptase were significantly lower in white matter ...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
TERT promoter mutations were absent in gastrointestinal stromal tumour (GIST), thymic epithelial tum...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
TERT promoter mutations: a novel independent prognostic factor in primary glioblastomas.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We studied the regulation of telomerase and telomerase reverse transcriptase catalytic subunit (TERT...	DisGeNET	Detail
A survival analysis was performed to assess the prognostic significance of hTERT-targeting miRNAs in...	DisGeNET	Detail
We detected specific (-124 C>T and -146 C>T) TERT promoter mutations in 143/178 (80.3%) primary GBM ...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Neither of SCC from all other origins nor matched non-neoplastic tissue contains the TERT promoter m...	DisGeNET	Detail
ARID1A and TERT promoter mutations in dedifferentiated meningioma.	DisGeNET	Detail
Mutations in telomerase complex genes (TERT or TERC) and short telomeres are genetic risk factors fo...	DisGeNET	Detail
NA	DisGeNET	Detail
It was also shown by flow cytometry that, compared with the scramble-treated group (negative control...	DisGeNET	Detail
Association of genetic polymorphisms in the telomerase reverse transcriptase gene with prostate canc...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
TERT promoter mutations are also noted in LGG and are mainly associated with oligodendrogliomas.	DisGeNET	Detail
Despite the frequent occurrence of TERT promoter mutations in urothelial carcinoma, the incidence of...	DisGeNET	Detail
TERT promoter mutations are associated with distant metastases in upper tract urothelial carcinomas ...	DisGeNET	Detail
Mutations in the promoter of the telomerase reverse transcriptase (TERT) and fibroblast growth facto...	DisGeNET	Detail
TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial carcinoma (64.5%), ...	DisGeNET	Detail
Human telomerase reverse transcriptase messenger RNA (TERT mRNA) as a tumour marker for early detect...	DisGeNET	Detail
Our study demonstrates the importance of CTNNB1 mutations and NFE2L2-KEAP1 pathway activation in HB ...	DisGeNET	Detail
Although the TERT gene is mutated in HCC, the role of this mutation remains to be demonstrated.	DisGeNET	Detail
Recently, rare loss-of-function mutations in Apolipoprotein B resulting in very low density lipoprot...	DisGeNET	Detail
Polymorphisms of TERT and CLPTM1L and the risk of hepatocellular carcinoma in Chinese males.	DisGeNET	Detail
In conclusion, these findings showed that combination HSV1-TK/hTERT gene therapy effectively and saf...	DisGeNET	Detail
Common telomerase reverse transcriptase promoter mutations in hepatocellular carcinomas from differe...	DisGeNET	Detail
In our study, we tested a matrix metalloproteinase-2 (MPP2) aCPP in delivering hTERT siRNA into hepa...	DisGeNET	Detail
TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial carcinoma (64.5%), ...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Finally, the human telomerase reverse transcriptase immortalized cell line from peri-implantitis exh...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Thymic epithelial tumours, gastrointestinal leiomyoma, and gastric schwannoma were included, for whi...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
The role of telomerase protein TERT in Alzheimer's disease and in tau-related pathology in vitro.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
TP53 mutations, which result in its overexpression, in combination with TERT promoter mutations seem...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Sequence variation in telomerase reverse transcriptase (TERT) as a determinant of risk of cardiovasc...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Sequence variation in telomerase reverse transcriptase (TERT) as a determinant of risk of cardiovasc...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Further clinical confounding factor, namely, tumor grade/stage level of cases, supports the genotypi...	DisGeNET	Detail
This study is the first to identify frequent BAP1 and BRCA pathway alterations in bladder cancer, sh...	DisGeNET	Detail
TERT promoter C228T and C250T mutations occur in various malignancies including bladder cancer (BC) ...	DisGeNET	Detail
TERT promoter mutations and TERT mRNA but not FGFR3 mutations are urinary biomarkers in Han Chinese ...	DisGeNET	Detail
The activity of the mutant hTERT promoter detected by luciferase assay was about three times as larg...	DisGeNET	Detail
Mutations in TERT promoter and FGFR3 and telomere length in bladder cancer.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
TERT promoter mutations were detected in 101 glioma samples (grades I-IV) and 49 other brain tumors ...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
microRNA‑299‑3p inhibits laryngeal cancer cell growth by targeting human telomerase reverse transcri...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Thus, testing of TERT promoter mutations on FNAB will enhance and improve the current molecular-base...	DisGeNET	Detail
TERT protein was found to be more expressed in neoplastic than in normal tissues, and to display a d...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
TERT promoter mutations and gene amplification: promoting TERT expression in Merkel cell carcinoma.	DisGeNET	Detail
We have further confirmed that TERT promoter mutation may only exist in a very small fraction of NSC...	DisGeNET	Detail
Recurrent TERT promoter mutations in non-small cell lung cancers.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs93886 dbSNP
Genome: hg38
Position: chr5:1,253,167-1,295,068
Variant Type: snv

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