Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation BEFREE Four patients had moderate to wd-HCC in the context of pre-existing liver disease with cirrhosis (progressive familial intrahepatic cholestasis type-2 = 2, alpha-1 antitrypsin deficiency = 1, Alagille syndrome = 1). 29968976

2018

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker BEFREE Alpha-1 Antitrypsin (α1AT) Deficiency is a genetic disease in which accumulation of α1AT mutant Z (α1ATZ) protein in the ER of hepatocytes causes chronic liver injury, liver fibrosis, and hepatocellular carcinoma. 30067827

2018

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker BEFREE Severe alpha-1-antitrypsin (AAT) deficiency (PiZZ) is a risk factor for liver disease, but the prevalence of liver cirrhosis and hepatocellular cancer in PiZZ adults is unknown. 28328804

2017

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation BEFREE Liver injury resulting from this gain-of-toxic function mechanism in which mutant AAT retained in the ER initiates a series of pathologic events, eventually culminating at liver cirrhosis and HCC. 28927525

2017

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker CTD_human Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS. 21472284

2012

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation BEFREE In the classical form of alpha-1-antitrypsin (AT) deficiency, a mutant protein accumulates in the endoplasmic reticulum of liver cells, causing hepatic fibrosis and hepatocellular carcinoma by a gain-of-toxic function mechanism. 21683248

2011

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation BEFREE Our aim was to estimate the frequency of hemochromatosis gene (HFE) mutant alleles (C282Y and H63D) and alpha-1 antitrypsin S/Z variants among Egyptian HCV cirrhotic patients and in hepatocellular carcinoma patients and to evaluate their effects on disease progression. 21925577

2011

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker BEFREE Homozygous ZZ α-1-antitrypsin (a1AT) deficiency is a common genetic liver disease that causes liver injury and hepatocellular carcinoma (HCC). 20890217

2010

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation BEFREE AAT polymorphisms were investigated by isoelectric focusing in 61 patients with liver cirrhosis and 9 patients with hepatocellular carcinoma. 19961268

2009

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation BEFREE 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: 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: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker BEFREE Studies have shown that AIAT heterozygosity can be considered a modifier for hepatitis C virus, end-stage liver disease, cirrhosis and hepatocellular carcinoma. 17519511

2007

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation BEFREE We determined the genotype of four proposed genetic risk factors for hepatocellular carcinoma [hereditary hemochromatosis (HFE 63 and 282), alpha(1)-antitrypsin deficiency (AAT 342) and cystic fibrosis (CFTR 508)] on formalin-fixed tissue samples, stored for up to 25 years, from 318 patients diagnosed with hepatocellular carcinoma and on plasma or serum samples from 31 of these patients. 15668502

2005

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker BEFREE Homozygous, PIZZ alpha(1)-antitrypsin (alpha(1)-AT) deficiency is associated with chronic liver disease and hepatocellular carcinoma resulting from the toxic effects of mutant alpha(1)-anti-trypsin Z (alpha(1)-ATZ) protein retained in the endoplasmic reticulum (ER) of hepatocytes. 14684378

2004

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: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker BEFREE This issue may be particularly important for mutant secretory protein alpha(1)-antitrypsin (alpha(1)AT) Z because retention of this mutant protein in the ER can cause severe target organ injury, the chronic hepatitis/hepatocellular carcinoma associated with alpha(1)AT deficiency. 11052993

2000

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation BEFREE Previously, we developed a model for high incidence, endogenously generated hepatocellular carcinoma (HCC), the human alpha-1-antitrypsin (alpha1AT) Z gene transgenic mouse (Z#2). 9626974

1998

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation BEFREE None of the homozygous or heterozygous alpha 1 antitrypsin deficient patients had developed hepatocellular carcinoma compared with 3.4% (2 of 59) of the non-PiZ gene carriers (p = 1.0). 7615285

1995

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker BEFREE The positive association of serum alpha-1-antitrypsin with tobacco smoking and the previously reported excessive elevation of serum alpha-1-antitrypsin in hepatitis B-negative tobacco-related cases of HCC suggest that alpha-1-antitrypsin is intimately related to the pathogenetic process linking tobacco smoking to HCC. 7686528

1993

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker BEFREE We studied 82 patients with primary hepatobiliary cancer; 59 had hepatocellular carcinoma and 23 had bile duct carcinoma. alpha 1-Antitrypsin quantitation and phenotyping were performed in each patient using standard methods. 1312055

1992

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker BEFREE Greater than 85% of the transport-impaired PiZ variant of human alpha 1-antitrypsin is retained within transfected mouse hepatoma cells and is subjected to intracellular degradation (Le, A., Graham, K., and Sifers, R.N.(1990) J. Biol.Chem.265, 14001-14007). 1530934

1992

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker BEFREE In this study, we show that there is time-dependent and saturable internalization of alpha 1-AT-elastase and alpha 1-AT-trypsin complexes in human hepatoma HepG2 cells. 2211587

1990

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker BEFREE A patient is described with micronodular cirrhosis, partial (heterozygous, MZ) deficiency of alpha-1-antitrypsin (AAT) and hepatocellular carcinoma. 3005953

1985

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker BEFREE In addition, the apparent sizes of native factor I, transferrin, and alpha-1-antitrypsin secreted by the three hepatoma lines differed due to differences in postsynthetic processing. 6327681

1984

Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation BEFREE In order to investigate the possible association, we studied the phenotypic distribution of alpha-1-antitrypsin variants (Pi) in 124 cases of HCC. 6171495

1982