TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.090 GeneticVariation disease BEFREE A novel TERT variant, A243V, was identified in a 65-year-old male with advanced HCC and cirrhosis secondary to chronic hepatitis C virus (HCV) and alcohol ingestion, but direct assay measurements in vitro did not detect modulation of telomerase enzymatic activity or processivity. 28813500 2017
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.090 GeneticVariation disease BEFREE Here we determine a potential association of CHB/LC with the genetic variant of telomerase reverse transcriptase (TERT), a key player in aging including immune-senescence. 28300824 2017
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.090 AlteredExpression disease BEFREE Serum miRNA155 levels and blood and tissue hTERT mRNA were detected by real-time quantitative reverse-transcriptase PCR (RT-qPCR) among liver cirrhosis and HCC patients. 27751368 2016
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.090 GeneticVariation disease BEFREE Several lines of evidence suggest that this process is involved in liver disease progression: (a) telomere shortening and alterations in the expression of proteins protecting the telomere are associated with cirrhosis and hepatocellular carcinoma; (b) advanced liver damage is a feature of a spectrum of genetic diseases impairing telomere function, and inactivating germline mutations in the telomerase complex (including human Telomerase Reverse Transcriptase (hTERT) and human Telomerase RNA Component (hTERC)) are enriched in cirrhotic patients independently of the etiology; and (c) experimental models suggest that telomerase protects from liver fibrosis progression. 26999107 2016
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.090 GeneticVariation disease BEFREE Telomerase reverse transcriptase promoter mutation is an early somatic genetic alteration in the transformation of premalignant nodules in hepatocellular carcinoma on cirrhosis. 25123086 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.090 GeneticVariation disease BEFREE Mutations in TERT, the catalytic component, and TERC, the RNA template, can behave as risk factors for the development of bone marrow failure, pulmonary fibrosis, and hepatic cirrhosis. 22507770 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.090 GeneticVariation disease BEFREE The telomerase RNA component (TERC) and the telomerase reverse transcriptase (TERT) were sequenced in 1,121 individuals (521 patients with cirrhosis induced by chronic liver disease and 600 noncirrhosis controls). 21520174 2011
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.090 GeneticVariation disease BEFREE The allele frequency for the most common missense TERT variant was significantly higher in patients with cirrhosis (2.6%) than in 2,000 controls (0.7%; P = 0.0011). 21520173 2011
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.090 AlteredExpression disease BEFREE We performed RT-PCR to detect the expression of hTERT mRNA in 78 patients with HCC, 10 with liver cirrhosis (LC), 12 with chronic hepatitis (CH), and 34 healthy individuals without any liver diseases and cancers, and statistically analyzed the association with clinical parameters which include age, sex, etiology, Child classification, underlying liver disease, biochemical data, alpha-fetoprotein (alpha-AFP) number and size of tumor, and histological differentiation of HCC regarding HCC patients. 12759542 2003