Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 AlteredExpression group BEFREE Heterozygous genotypes and normal levels of A1AT also manifested significant lung disease. 30517339 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.600 Biomarker group BEFREE On the other hand, the triple positive-CD4+ cells (PMA stimulation) alone or together with the mock/MAB ratio of IL-2+/TNF-α+ CD4 cells could predict MAB-LD in the MAB-Co group or the controls. 31085455 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 GeneticVariation group BEFREE The SERPINA1 gene encodes α <sub>1</sub> -antitrypsin (AAT), and mutations in the gene are important in the pathophysiology of pulmonary diseases. 31298815 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 Biomarker group BEFREE <b>Rationale:</b> Augmentation therapy with intravenous AAT (alpha-1 antitrypsin) is the only specific therapy for individuals with pulmonary disease from AAT deficiency (AATD). 30965011 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 Biomarker group BEFREE <b>Rationale:</b> The association between non-tuberculous mycobacterial lung disease and alpha-1-antitrypsin (AAT) deficiency is likely due, in part, to underlying emphysema or bronchiectasis. 31293581 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.600 GeneticVariation group BEFREE In an analysis of the cases and unmatched controls who did not receive sulfasalazine, an increased risk of PJP was associated with lung disease (3.88, 1.89-7.95) and the use of glucocorticoid (5.71, 2.68-12.19), methotrexate (5.25, 2.01-13.74), and tumor necrosis factor inhibitors (2.32, 1.10-4.93). 30057321 2019
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.600 Biomarker group BEFREE Fibroblasts undergoing replicative senescence or transforming growth factor β1-induced senescence and fibroblasts isolated from human subjects with an age-related lung disorder, idiopathic pulmonary fibrosis, secreted higher numbers of EVs than their respective controls. 30321056 2019
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.600 Biomarker group BEFREE Idiopathic pulmonary fibrosis (IPF) is a progressive lung disease with a poor prognosis and limited therapies, and transforming growth factor-β1 (TGF-β1) plays a central role in the pathogenesis of IPF. 31606345 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 AlteredExpression group BEFREE Deficiency of AAT could contribute to reduced lung PLTP activity and elevated neutrophil signaling associated with lung disease. 30337619 2018
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
0.600 Biomarker group BEFREE SP-B pre-proteins might serve as a biomarker in pulmonary diseases with alveolar or interstitial damage such as ILDs, especially in IPF. 29763900 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 GeneticVariation group BEFREE Increased risk of liver and lung disease has also been reported in heterozygous subjects who carry Z in association with the milder S allele (Glu264Val) or even with wild-type M. However, it is unknown whether Z AAT can co-polymerize with other AAT variants in vivo. 29538751 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 Biomarker group BEFREE Currently, the available therapy for lung disease associated with AATD is serum purified human AAT injected into patients on a weekly basis. 30338221 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 Biomarker group BEFREE Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications. 29430176 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 AlteredExpression group BEFREE Current treatment options include augmentation therapy with purified AAT for patients with deficient AAT levels and significant lung disease. 29984428 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.600 AlteredExpression group BEFREE Elevated levels of TGF-β1 are found in patients with acute and chronic lung diseases, and the underlying disease processes are exacerbated by respiratory viral infections. 29427413 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.600 Biomarker group BEFREE While the serum and BALF levels of KL-6 and TGF-β2 are not highly specific, TGF-β1 may be a valuable reference diagnostic marker in HM lung disease. 29669483 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 Biomarker group BEFREE Patients with alpha-1 antitrypsin (AAT) deficiency develop progressive lung disease due to the loss of AAT's antiprotease function and liver disease due to a toxic gain of function of the common mutant allele. 29597895 2018
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.600 Biomarker group BEFREE PM2.5 exposure during pregnancy results in lung inflammation in offspring mediated by increased HMGB1 expression, followed by upregulated IL-1, IL-6 and TNF-α secretions, which may contribute to the development of inflammatory lung diseases in later life. 29233668 2018
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 GeneticVariation group BEFREE Alpha-1 antitrypsin (a1AT) deficiency, in its classical form, is an autosomal recessive disease associated with an increased risk of liver disease in adults and children, and with lung disease in adults. 28752463 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 GeneticVariation group BEFREE Classical alpha-1 antitrypsin (a1AT) deficiency is an autosomal recessive disease associated with an increased risk of liver disease in adults and children, and with lung disease in adults (Teckman and Jain, Curr Gastroenterol Rep 16(1):367, 2014). 28752441 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 AlteredExpression group BEFREE In individuals with AAT deficiency (AATD), AAT is retained in liver cells, which predisposes them to liver disease, and does not reach lung tissues through circulation, where it normally acts as the primary natural regulator of proteolytic activity in the pulmonary tissues, which thus leads to lung disease. 28234047 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 GeneticVariation group BEFREE Alpha-1-antitrypsin deficiency (AATD) is a rare inherited condition caused by mutations of the SERPINA1 gene that is associated with the development of a COPD like lung disease. 28915894 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.600 AlteredExpression group BEFREE The low AAT concentration can result in uninhibited neutrophil elastase activity in the lung, leading to pulmonary tissue damage and lung disease. 28752443 2017
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.600 Biomarker group BEFREE The concentrations of TNF-α and CXCL8, but not others, were negatively correlated with severity of disease (lung function forced expiratory volume in 1 s) (TNF-α vs. total: r = -0.359, P= 0.002 vs. moderate/severe: r= -0.541, P= 0.001; CXCL8 vs. total: r = -0.327, P= 0.006 vs. moderate/severe: r = -0.625, P= 0.0001, respectively). 28836545 2017
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.600 Biomarker group BEFREE The significant Ago2-IP enrichment of targets of these miRNAs related to the TGF-β and/or Wnt pathways (NGF, DLD, HHEX) in TGF-β1-stimulated fibroblasts suggest a role for these miRNAs in lung diseases by affecting lung fibroblast function. 28910321 2017