SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: Panacinar Emphysema ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0264393
Disease: Panacinar Emphysema
Panacinar Emphysema 		0.350 AlteredExpression disease BEFREE Serum α1AT levels <11 μM are associated with progressive destruction of lung parenchyma and early-onset of panacinar emphysema in the age range 35-45. 24191907 2013
CUI: C0264393
Disease: Panacinar Emphysema
Panacinar Emphysema 		0.350 Biomarker disease BEFREE The lack of circulating plasma alpha(1)-antitrypsin results in early-onset panlobular emphysema. 14694355 2004
CUI: C0264393
Disease: Panacinar Emphysema
Panacinar Emphysema 		0.350 Biomarker disease BEFREE Thus, the Z alpha(1)-antitrypsin homozygote is predisposed to developing early onset basal, panacinar emphysema. 12672469 2003
CUI: C0264393
Disease: Panacinar Emphysema
Panacinar Emphysema 		0.350 Biomarker disease CTD_human Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes. 3485249 1986
CUI: C0264393
Disease: Panacinar Emphysema
Panacinar Emphysema 		0.350 Biomarker disease BEFREE alpha 1-antitrypsin (alpha 1AT) deficiency is an inherited disorder almost always associated with the development of panacinar emphysema in the fourth to fifth decades. 3896239 1985
CUI: C0264393
Disease: Panacinar Emphysema
Panacinar Emphysema 		0.350 AlteredExpression disease BEFREE This concept has evolved from consideration of patients with alpha 1-antitrypsin deficiency, who have decreased levels of serum alpha 1-antitrypsin and who have progressive panacinar emphysema. 6169740 1981