TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Dyskeratosis Congenita ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE Our study identified three clinical pathologic TERT mutations and implied that telomere erosion might be accumulated through successive generations, contributing to the severity of DC in the younger generation. 31119896 2019
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE We found that platelet count was significantly more depressed than neutrophil count or hemoglobin value in DKC patients, and identified DKC patients with large deletions in the telomerase reverse transcriptase and cryptic DKC patients with RTEL1 mutations on both alleles. 26329388 2015
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE Here, we describe a novel TERT mutation at position T1129P leading to DKC with progressive bone marrow (BM) failure in homozygous members of a consanguineous family. 26546739 2015
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE As our patients manifested neither intracranial calcification nor significant neurocognitive impairment, we conclude that the c.2603A>G TERT mutation may define a subtype of DC manifesting first as exudative retinopathy without other signs of DC. 25067791 2014
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and severe recessive childhood dyskeratosis congenita, typically with associated mucocutaneous features, and others (TERC and TERT) for more subtle presentation as telomeropathy in adults, in which multiorgan failure may be prominent. 25237198 2014
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita. 22664374 2013
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE As with DC, mutations in genes encoding factors required for telomere maintenance, such as telomerase reverse transcriptase (TERT), have been found in patients with HHS. 23538340 2013
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE No differences in % subtelomeric, LINE-1, or pericentromeric methylation between patients with DC and relatives were noted except for an increase in % subtelomeric methylation in DC patients with a telomerase-complex mutation (TERC, TERT, DKC1, or TCAB1) (63.0% in DC vs. 61.8% in relatives, P = 0.03). 21981348 2012
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 AlteredExpression disease BEFREE Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or the telomerase RNA component, TERC. 19558498 2010
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE Dyskeratosis congenita (DC) is a rare inherited form of bone marrow failure (BMF) caused by mutations in telomere maintaining genes including TERC and TERT. 18931339 2009
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE Telomerase complex genes mutations (DKC1, TERC, TERT, and NOP10) lead to premature telomere shortening and are responsible for different forms of dyskeratosis congenita. 18989882 2009
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 Biomarker disease BEFREE This is the first study of its kind in DC lymphocytes and the first to demonstrate that transduction with TERC alone can improve cell survival and telomere length without the need for exogenous TERT. 19036115 2009
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 Biomarker disease CTD_human Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. 18042801 2008
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE Three genetic subtypes are recognized: X-linked recessive DC bears mutations in DKC1, the gene encoding dyskerin, a component of H/ACA small nucleolar ribonucleoprotein particles; autosomal dominant (AD) DC has heterozygous mutations in either TERC or TERT, the RNA and enzymatic components of telomerase, respectively, and autosomal recessive DC in which the genes involved remain largely elusive. 18005359 2008
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. 18042801 2008
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease LHGDN Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. 18460650 2008
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 Biomarker disease GENOMICS_ENGLAND Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. 18460650 2008
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 Biomarker disease LHGDN A dyskerin motif reactivates telomerase activity in X-linked dyskeratosis congenita and in telomerase-deficient human cells. 18057229 2008
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 Biomarker disease BEFREE Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which the known susceptibility genes (DKC1, TERC, and TERT) belong to the telomere maintenance pathway; patients with DC have very short telomeres. 17468339 2007
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease LHGDN Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 16990594 2007
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 Biomarker disease CTD_human Collectively, the findings from this study demonstrate that homozygous TERT mutations, resulting in a pure but severe telomerase deficiency, produce a phenotype of classical AR-DC and its severe variant, the HH syndrome. 17785587 2007
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE X-linked DC is due to mutations in DKC1, while heterozygous mutations in TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) have been found in autosomal dominant DC. 17785587 2007
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 Biomarker disease GENOMICS_ENGLAND Collectively, the findings from this study demonstrate that homozygous TERT mutations, resulting in a pure but severe telomerase deficiency, produce a phenotype of classical AR-DC and its severe variant, the HH syndrome. 17785587 2007
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.600 GeneticVariation disease BEFREE Telomerase RNA component (TERC), the RNA component and TERT the enzymatic component of telomerase, are mutated in autosomal dominant DC, suggesting that DC is primarily a disease of defective telomere maintenance. 17507419 2007