ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: COPD, Severe Early-Onset ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1969833
Disease: COPD, Severe Early-Onset
COPD, Severe Early-Onset 		0.010 Biomarker disease BEFREE Previously, a rare functional mutation in the terminal exon of elastin was found in a case of severe, early-onset COPD. 19029017 2009