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: C4721508
Disease: Hamman-Rich Disease
Hamman-Rich Disease
0.300 Biomarker disease CTD_human A Rare Missense Variant in Telomerase Reverse Transcriptase is Associated with Idiopathic Pulmonary Fibrosis in a Chinese Han Family. 30203795 2018
CUI: C4721508
Disease: Hamman-Rich Disease
Hamman-Rich Disease
0.300 Biomarker disease CTD_human Identification of seven loci affecting mean telomere length and their association with disease. 23535734 2013
CUI: C4721508
Disease: Hamman-Rich Disease
Hamman-Rich Disease
0.300 Biomarker disease CTD_human Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
CUI: C4721508
Disease: Hamman-Rich Disease
Hamman-Rich Disease
0.300 Biomarker disease CTD_human Telomerase mutations in families with idiopathic pulmonary fibrosis. 17392301 2007
CUI: C4721508
Disease: Hamman-Rich Disease
Hamman-Rich Disease
0.300 Biomarker disease CTD_human Adult-onset pulmonary fibrosis caused by mutations in telomerase. 17460043 2007