Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation UNIPROT Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 19760749

2009
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation UNIPROT Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 16990594

2007
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation 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
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.790 GeneticVariation 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