TERT, telomerase reverse transcriptase, 7015

N. diseases: 72; N. variants: 75
Disease: Aplastic anemia, idiopathic ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0348890
Disease: Aplastic anemia, idiopathic
Aplastic anemia, idiopathic 		0.300 SusceptibilityMutation disease ORPHANET Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 16990594 2007
CUI: C0348890
Disease: Aplastic anemia, idiopathic
Aplastic anemia, idiopathic 		0.300 SusceptibilityMutation disease ORPHANET Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. 16627250 2006