|
SERPINA1
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
SERPINA1
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
"Characterization of the gene and protein of the alpha 1-antitrypsin ""deficiency"" allele Mprocida."
|
3262617 |
1988 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
204 patients with COPD were genotyped in the London cohort and serum α(1)-antitrypsin concentration was measured at baseline and (n=92) exacerbation.
|
21335450 |
2011 |
|
SERPINA1
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
COPD subjects with higher serum alpha-1 antitrypsin levels were associated with a worse systemic inflammation status and higher 10-year mortality.
|
31849461 |
2019 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
alpha(1)-Antitrypsin (alpha(1)AT) deficiency predisposes individuals to chronic obstructive pulmonary disease (COPD) and/or liver disease.
|
18024524 |
2008 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alpha-1-antitrypsin (AAT) deficiency results from mutations on the Protease Inhibitor (PI) locus located in chromosome 14 and has been associated with pulmonary early-onset emphysema and chronic obstructive pulmonary disease (COPD).
|
20226649 |
2010 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alpha-1 antitrypsin (AAT) deficiency is an underdiagnosed pathology associated with COPD risk which has a very low prevalence.
|
21652608 |
2011 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alpha-1-antitrypsin (α1-AT) deficiency is mainly evaluated in the diagnostic process of chronic obstructive pulmonary disease (COPD).
|
22291048 |
2012 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alpha-1 antitrypsin (AAT) deficiency and tobacco smoking are confirmed risk factors for Chronic Obstructive Pulmonary Disease.
|
22617718 |
2012 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
α-1-antitrypsin variants and the proteinase/antiproteinase imbalance in chronic obstructive pulmonary disease.
|
25416382 |
2015 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alpha-1 antitrypsin (AAT) functions primarily to inhibit neutrophil elastase, and its deficiency predisposes individuals to the development of chronic obstructive pulmonary disease (COPD).
|
28769553 |
2017 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SERPINA1 Hepatocyte-Specific Promoter Polymorphism Associate with Chronic Obstructive Pulmonary Disease in a Study of Kashmiri Ancestry Individuals.
|
29804144 |
2018 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alpha-1 antitrypsin (AAT) deficiency is associated with an increased risk of chronic obstructive pulmonary disease and has been related to CD4 T-cell count decline in people living with HIV (PLWH).
|
30160349 |
2018 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alpha 1-antitrypsin Pi-types in 965 COPD patients.
|
3485034 |
1986 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
alpha 1-antitrypsin (alpha 1-A.T.) phenotypes were determined in 55 patients with rheumatoid arthritis (R.A.), 33 patients with R.A. and either obstructive airways disease or recurrent chest infections, 49 patients with fibrosing alveolitis (F.A.), 22 patients with R.A. and F.A., and 200 healthy controls.
|
72955 |
1977 |
|
SERPINA1
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure.
|
2254451 |
1990 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
A systematic qualitative review was made of 107 articles, focusing mainly on an active search for AATD in COPD patients and intravenous (iv) treatment with AAT.
|
25027067 |
2015 |
|
SERPINA1
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
All of the investigated patients with severe COPD were MM type homozygotes with normal plasma level of AAT.
|
22075288 |
2011 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alpha 1-antitrypsin deficiency (AATD) is a genetic disorder which reduces serum alpha 1-antitrypsin (AAT or alpha1-proteinase inhibitor, A1PI) and increases the risk of chronic obstructive pulmonary disease (COPD).
|
29616482 |
2018 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Although hereditary severe deficiency of α1 antitrypsin (A1AD) has been established to cause emphysema, A1AD accounts for only ∼ 1% of Chronic Obstructive Pulmonary Disease (COPD) cases.
|
26915270 |
2016 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Association of the PIM3 allele of the alpha-1-antitrypsin gene with chronic obstructive pulmonary disease.
|
15820782 |
2005 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association of the PIM3 allele of the alpha-1-antitrypsin gene with chronic obstructive pulmonary disease.
|
15820782 |
2005 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Beside the well-known proteinase inhibitory function, which protects the lungs from chronic obstructive pulmonary disease (COPD), many studies have shown that AAT inhibits pro-inflammatory cytokine gene expression and functions.
|
30194599 |
2018 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Blood monocyte profiles in COPD patients with PiMM and PiZZ α1-antitrypsin.
|
30827477 |
2019 |