ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1717804
Disease: Emphysema or COPD
Emphysema or COPD
0.010 Biomarker disease BEFREE In the absence of α1AT, elastase released by lung macrophages, was not inhibited and lead to elastin breakdown and pulmonary problems such as emphysema or COPD. 23705923 2013