SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.330 Biomarker disease CTD_human alpha 1-antitrypsin phenotypes in fibrosing alveolitis and rheumatoid arthritis. 72955 1977
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.330 GeneticVariation disease BEFREE In RA, however, the association between pulmonary interstitial fibrosis and alpha 1-antitrypsin variants was striking. 3487321 1986
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.330 GeneticVariation disease BEFREE In contrast, pathogenesis of other chronic lung diseases like ΔF508-cystic fibrosis (CF), α1-anti-trypsin-deficiency (α-1 ATD) and pulmonary fibrosis (PF) is regulated by other proteostatic mechanisms, involving the degradation of misfolded proteins (ΔF508-CFTR/α1-AT- Z variant) or regulating the concentration of signaling proteins (such as TGF-β1) by the ubiquitin-proteasome system (UPS). 22697347 2012
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.330 GeneticVariation disease BEFREE Restriction fragment length polymorphisms (RFLPs) of alpha-1-antitrypsin were studied in 99 subjects with rheumatoid arthritis alone, 21 subjects with rheumatoid arthritis and pulmonary fibrosis, 26 subjects with rheumatoid arthritis and bronchiectasis, and 86 controls. 1983194 1991