Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.600 GeneticVariation LHGDN In this study, an AAT polymorphism analysis in correlation with pulmonary diseases was conducted. 18725338

2008

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.600 Biomarker LHGDN AAT may be an anti-RGM host-defense factor, and anomalous AAT phenotypes or AAT deficiency may constitute risk factors for pulmonary disease due to RGM. 17654345

2007

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.600 Biomarker LHGDN Individuals with alpha(1)-AT deficiency and moderate to severe lung function impairment have lung alpha-defensins concentrations in a range known to induce cytotoxicity in vitro in the absence of normal amounts alpha(1)-AT and thus may contribute to the development of lung disease in this population. 16137891

2005

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation LHGDN Our objective was to estimate the prevalence of HFE and SERPINA1 (formerly known as alpha1-antitrypsin, AAT) mutations and assess their influence on hepatocellular carcinoma development. 18164971

2008

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.500 GeneticVariation LHGDN Association of the PIM3 allele of the alpha-1-antitrypsin gene with chronic obstructive pulmonary disease. 15820782

2005

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker LHGDN The C-terminal 26-residue peptide of serpin A1 stimulates proliferation of breast and liver cancer cells: role of protein kinase C and CD47. 15498560

2004

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.500 GeneticVariation LHGDN MVarallo: a new M(Like) alpha 1-antitrypsin-deficient allele. 14639110

2003

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.400 GeneticVariation LHGDN The AAT gene shows significant variation, and we hypothesized that cryptic genetic variants within the AAT gene may contribute to susceptibility to liver disease. 17972336

2008

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.400 GeneticVariation LHGDN The presence of the relatively high frequency of A1AT S and HFE H63D allele carriers in Egyptian cases of HCV liver cirrhosis suggest the necessity to implement routine molecular analysis of these genes for detection of risk genotypes among affected families. 16802007

2006

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.320 Biomarker LHGDN Alpha1-antitrypsin deficiency carriers, tobacco smoke, chronic obstructive pulmonary disease, and lung cancer risk. 18504338

2008

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0003949
Disease: Asbestosis
Asbestosis
0.310 GeneticVariation LHGDN Pi*S and Pi*Z alpha 1 antitrypsin polymorphism and the risk for asbestosis in occupational exposure to asbestos. 12368052

2002

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0004096
Disease: Asthma
Asthma
0.300 GeneticVariation LHGDN [Alpha 1 antitrypsin polymorphism associated to asthma and emphysema in a central Tunisian population]. 18725338

2008

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.200 GeneticVariation LHGDN In this study, we investigated the relationship between a polymorphism (1237 G --> A) in the 3' enhancer region of the alpha-1-antitrypsin (AAT) gene and pulmonary disease severity in 320 CF patients recruited from two independent adult referral centers in Ireland, and evaluated the in vivo effect of the polymorphism on AAT levels during acute infection. 16617455

2006

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0019158
Disease: Hepatitis
Hepatitis
0.140 GeneticVariation LHGDN Does the heterozygous state of alpha-1 antitrypsin deficiency have a role in chronic liver diseases? Interim results of a large case-control study. 16819398

2006

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis
0.080 Biomarker LHGDN Epidemiology of Wegener's granulomatosis: Lessons from descriptive studies and analyses of genetic and environmental risk determinants. 16859601

2006

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.070 Biomarker LHGDN HOS activity of alpha(1)-antitrypsin may curtail HO-1-dependent derangement of cerebral iron homeostasis and account for diminished HO-1 expression in AD peripheral tissues. 16887359

2006

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.070 GeneticVariation LHGDN Does the heterozygous state of alpha-1 antitrypsin deficiency have a role in chronic liver diseases? Interim results of a large case-control study. 16819398

2006

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
0.060 GeneticVariation LHGDN Does the heterozygous state of alpha-1 antitrypsin deficiency have a role in chronic liver diseases? Interim results of a large case-control study. 16819398

2006

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.030 AlteredExpression LHGDN Impaired luminal processing of human defensin-5 in Crohn's disease: persistence in a complex with chymotrypsinogen and trypsin. 18258845

2008

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.030 Biomarker LHGDN The additional finding of circulating antibodies against the HSP70-alpha1AT protein supported its immunogenic properties with implications for diabetes and its complications. 14766207

2004

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0497327
Disease: Dementia
Dementia
0.030 Biomarker LHGDN Hypersensitive mousetraps, alpha1-antitrypsin deficiency and dementia. 12023831

2002

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.020 AlteredExpression LHGDN Alpha-1 antitrypsin (alpha1-AT) plasma levels in lung, prostate and breast cancer patients. 18766166

2008

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C3714514
Disease: Infection
Infection
0.020 Biomarker LHGDN Serological proteomics of gastritis: degradation of apolipoprotein A-I and alpha1-antitrypsin is a common response to inflammation irrespective of Helicobacter pylori infection. 18594986

2008

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C3714514
Disease: Infection
Infection
0.020 AlteredExpression LHGDN Helicobacter pylori infection and short-term intake of low-dose aspirin have different effects on alpha-1 antitrypsin/alpha-1 peptidase inhibitor (alpha1-PI) levels in antral mucosa and peripheral blood. 18609127

2008

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0021670
Disease: insulinoma
insulinoma
0.020 AlteredExpression LHGDN Serpin peptidase inhibitor clade A member 1 (SERPINA1; alpha-1-antitrypsin) expression, identified as up-regulated in malignant insulinomas, was also evaluated by immunohistochemistry. 17855650

2007