TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Pulmonary Emphysema ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.020 GeneticVariation disease BEFREE Mutations in the essential telomerase genes TERT and TR cause familial pulmonary fibrosis; however, in telomerase-null mice, short telomeres predispose to emphysema after chronic cigarette smoke exposure. 25562321 2015
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.020 GeneticVariation disease BEFREE The TERT-CLPTM1L locus for lung cancer predisposes to bronchial obstruction and emphysema. 21622582 2011