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: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 GeneticVariation disease BEFREE The aim of this study was to check the characteristics of a commercially available amplification-reverse hybridization assay kit in detecting at a molecular level the alpha-1-antitrypsin (AAT) Z and S variants, i.e. the most frequent variants associated with AATD, by comparing its performance with DNA restriction fragment length polymorphism. 11844968 2002
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 GeneticVariation disease BEFREE Therefore, the optimal strategy for diagnostics of AAT deficiency should encompass detection of the most common AAT variants by IEF and screening for the less common variants by DGGE in combination with sequencing. 18433707 2008
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 Biomarker disease BEFREE Treatment of A1ATD-associated lung disease includes standard therapies that are also used for the treatment of COPD, in addition to the use of augmentation therapy (that is, infusions of human plasma-derived, purified α1-antitrypsin). 27465791 2016
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 GeneticVariation disease BEFREE In an unblinded study, we delivered a normal AAT gene in a plasmid-cationic liposome complex to one nostril of each of five subjects with AAT deficiency; the other, untreated nostril served as a control. 10811231 2000
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 Biomarker disease BEFREE AAV-mediated AAT gene therapy has been developed and tested in animal models for AAT deficiency, type 1 diabetes, rheumatoid arthritis, and osteoporosis. 30194601 2018
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 GeneticVariation disease BEFREE PiZ transgenic mice contain the human AAT genomic region harboring the most common AATD mutation, the Glu342Lys (Z) point mutation. 28752452 2017
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 GeneticVariation disease BEFREE The protein and molecular characteristics of variants of the alpha1-antitrypsin (AAT) gene are described, and available data on the genetic epidemiology of AAT deficiency are presented. 14760160 2004
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 Biomarker disease BEFREE Clinical evaluation for possible AAT deficiency includes two critical components: measuring AAT concentration in serum and identification of AAT deficiency alleles. 28752443 2017
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 Biomarker disease BEFREE In some countries, alpha-1-antitrypsin augmentation therapy is available for severe alpha-1-antitrypsin deficiency. 31737347 2019
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 GeneticVariation disease BEFREE To clarify the role of AAT deficiency in the acute vasculitic process as well as in progression of the disease, we studied 84 patients with either C-ANCA or P-ANCA vasculitis with special reference to: (a) the AAT gene, (b) the phenotypic (Pi) variants and (c) the serum levels during both acute illness and remission. 9279535 1997
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 GeneticVariation disease BEFREE Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. 30473034 2018
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 GeneticVariation disease BEFREE Alpha-1 antitrypsin deficiency (AATD) is a common hereditary disorder caused by mutations in the SERPINA1 gene, which encodes alpha-1 antitrypsin (AAT; also known as alpha 1-proteinase inhibitor, A<sub>1</sub>-PI). 28558837 2017
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 GeneticVariation disease BEFREE For example, a SERPINA1 mutation, associated with alpha-1 antitrypsin deficiency (AATD), predisposes affected individuals to diseases such as chronic obstructive pulmonary disease (COPD) and cancer, which are often detected in adulthood. 24177906 2014
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 GeneticVariation disease BEFREE Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism. 26005342 2015
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 AlteredExpression disease BEFREE In conclusion, patients with AAT deficiency had evidence of increased elastase activity at the start of the exacerbation when compared with nondeficient COPD patients which probably reflects a deficient antiproteinase screen (lower sputum AAT and SLPI). 10588615 1999
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 Biomarker disease BEFREE NGS and computational modeling are useful tools that can facilitate earlier, more precise diagnosis, and consideration for AAT therapy in AATD. 31307431 2019
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 Biomarker disease BEFREE Chronic obstructive pulmonary disease affects 10% of the worldwide population, and the leading genetic cause is α-1 antitrypsin (AAT) deficiency. 29453277 2018
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 Biomarker disease BEFREE α1-Antitrypsin (AAT) deficiency is a hereditary disorder due to defective production of the serine protease inhibitor, AAT, which can cause lung and liver diseases. 27543976 2016
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 Biomarker disease BEFREE α-1 Antitrypsin (AAT) deficiency is the most frequently occurring genetic liver disorder. 29505478 2018
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 Biomarker disease BEFREE Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons. 1975477 1990
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 GeneticVariation disease BEFREE Mutations in SERPINA1 gene cause AAT deficiency and predispose individuals to early-onset emphysema and liver diseases. 26141700 2015
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 Biomarker disease BEFREE A liver biopsy in ZZ individuals can demonstrate the accumulation of alpha-1 antitrypsin within the liver and identify if any associated liver scarring is present. 30138687 2018
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 Biomarker disease 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
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 GeneticVariation disease BEFREE We demonstrate the cumulative effects of multiple SERPINA1 variants on α1-antitrypsin deficiency, lung function, and emphysema, thus, significantly increasing the frequency of SERPINA1 variation associated with respiratory disease in at-risk smokers. 31661293 2020
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 Biomarker disease BEFREE Patients with α-1 antitrypsin (AAT) deficiency were excluded. 31268521 2019