TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Aplastic Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 Biomarker disease BEFREE The clinical relevance of varying telomere lengths (TL) and/or mutations in genes of the telomerase complex (TERC, TERT) is evolving in aplastic anemia. 23636667 2013
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation disease BEFREE Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia. 20658629 2010
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation disease UNIPROT Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 19760749 2009
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation disease BEFREE TERC and TERT mutations were also found in patients with aplastic anemia. 18989882 2009
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 Biomarker disease GENOMICS_ENGLAND Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. 18042801 2008
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation disease BEFREE Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from aplastic anemia and pulmonary fibrosis. 17392301 2007
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation disease BEFREE Recently, heterozygous mutations in TERT have been found in some patients with autosomal dominant DC and aplastic anemia. 17663679 2007
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation disease BEFREE Functional characterization of heterozygous TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) mutations found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA) shows that telomerase function is defective and that this is associated with short telomeres. 17640862 2007
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation disease LHGDN Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 16990594 2007
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation disease UNIPROT Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 16990594 2007
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation disease UNIPROT Novel heterozygous, non-synonymous mutations in TERT (T726M and G682D) were found in two patients with AA, neither of whom had clinical characteristics suggesting constitutional AA. 16627250 2006
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 Biomarker disease GENOMICS_ENGLAND We screened blood or marrow cells from 124 patients with apparently acquired aplastic anemia and 282 control subjects for sequence variations in the TERT, DKC1, NHP2, and NOP10 genes; an additional 81 patients and 246 controls were examined for genetic variations in TERT. 15814878 2005
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation disease BEFREE The results of coexpression of wild-type TERT and TERT with aplastic anemia-associated mutations in a telomerase-deficient cell line suggested that haploinsufficiency was the mechanism of telomere shortening due to TERT mutations. 15814878 2005
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation disease UNIPROT We have therefore screened the TERT gene for mutation by denaturing HPLC in 80 patients with inherited and acquired bone marrow failure (24 with dyskeratosis congenita, 36 with constitutional aplastic anemia, 13 with idiopathic aplastic anemia and 7 with other forms of bone marrow failure). 15885610 2005
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 Biomarker disease CTD_human We screened blood or marrow cells from 124 patients with apparently acquired aplastic anemia and 282 control subjects for sequence variations in the TERT, DKC1, NHP2, and NOP10 genes; an additional 81 patients and 246 controls were examined for genetic variations in TERT. 15814878 2005
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 Biomarker disease BEFREE In both mice and humans, hemizygosity for the telomerase RNA or TERT leads to an inability to maintain telomeres; in humans, this insufficiency can lead to diseases such as aplastic anaemia or dyskeratosis congenita. 16132814 2005
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 Biomarker disease HPO