SERPINA3, serpin family A member 3, 12

N. diseases: 229; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 Biomarker phenotype BEFREE Using a wide variety of variables that are potentially associated with treatment intensification from regular outpatient clinic to youth-ACT, we constructed a regression model illustrating a relatively strong relation between the predictor variables and the outcome (Nagelkerke R<sup>2</sup> = 0.61), with three strong predictors, i.e. severity of psychiatric disorders of the child, parental stress, and domestic violence. 30200911 2018
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.020 GeneticVariation disease BEFREE We identified four genetic risk sets for acute myocardial infarction (AMI) from information on functional gene variants that favor inflammation or modulate cholesterol metabolism: IL6 -174 G/C, TNF -308 G/A, IL10 -1082 G/A, SERPINA3 -51 G/T, IFNG +874 T/A, HMGCR -911 C/A, and APOE epsilon2/3/4; 316 patients and 461 healthy subjects, all Italian. 18056971 2007
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.020 AlteredExpression disease BEFREE After a median follow-up of 9 months, Kaplan-Meier survival analysis revealed that the MACE-free survival rate was significantly lower in AMI patients with higher Serpina3 levels (P = 0.002). 31439424 2020
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma 		0.010 Biomarker disease BEFREE The bottom-up approach pointed out several proteins of the inflammation (namely, α2-HS-glycoprotein, α1-antichymotrypsin and apolipoproteins) as possibly involved in the genesis and growth of the cystic component of ACP. 28414889 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 Biomarker group BEFREE [<sup>18</sup>F]FDG and [<sup>11</sup>C]ACT PET were performed before and following irradiation (RT, 15Gy) for transgenic adenocarcinoma of mouse prostate xenografts. 29125557 2017
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome 		0.010 AlteredExpression disease BEFREE We also observed increased levels of the human orthologue Serpina3 in the serum of Cushing's syndrome patients compared with healthy controls matched for age and sex (n = 9/group, 2.5-fold; P < 0.01). 29989354 2018
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.010 Biomarker disease BEFREE Standard chemotherapy for adrenocortical cancer currently is under evaluation in the context of the recently completed FIRM-ACT evaluating the combination of mitotane with either streptozocin or etoposide, cisplatin, and doxorubicin. 22170383 2011
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.030 GeneticVariation disease BEFREE A phase II, multicenter trial of rindopepimut (CDX-110) in newly diagnosed glioblastoma: the ACT III study. 25586468 2015
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.030 Biomarker disease BEFREE SERPINA3 induced by astroglia/microglia co-culture facilitates glioblastoma stem-like cell invasion. 29399139 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.030 Biomarker disease BEFREE In the ACT IV study, we aimed to assess whether or not the addition of rindopepimut to standard chemotherapy is able to improve survival in patients with EGFRvIII-positive glioblastoma. 28844499 2017
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 Biomarker disease BEFREE Our study demonstrates that α1-ACT suppresses liver cancer development and metastasis via targeting the PTEN/PI3K/AKT/mTOR signalling pathway, which may be a potential target for therapeutic intervention in HCC. 28456796 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.020 Biomarker disease BEFREE In addition, two single base transitions were identified by direct sequencing: [exon 6; codon 95; CGA (Arg) to TGA (stop)] and [exon 7; codon 172; ACC (Thr) to ACT (Thr)] in either transcript. 7479776 1995
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.020 Biomarker disease BEFREE For the first time, patients with metastatic/unresectable ACC can participate in a prospective controlled randomized trial comparing two different cytotoxic chemotherapy regimes (FIRM-ACT). 16570232 2006
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		0.010 Biomarker disease BEFREE Chromosome 14 screening and transmission disequilibrium testing on the gene encoding ACT suggest that it or a closely located gene may be involved in susceptibility to allergic asthma in the Italian population. 11295654 2001
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.030 Biomarker disease BEFREE Heterozygous alpha 1-antichymotrypsin and PiZ alpha 1-antitrypsin deficiency. Prevalence and clinical spectrum in asthmatic children. 2327559 1990
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.030 Biomarker disease BEFREE We also used the alpha 1-antichymotrypsin/alpha 1-antitrypsin ratio as a tool to identify PiZ carriers (intermediate alpha 1-antitrypsin-deficiency, PiZ). 3877579 1985
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.030 GeneticVariation disease BEFREE These results suggest that if genetic variation at the AACT locus does influence the outcome of alpha 1 antitrypsin deficiency, such variation is not in linkage disequilibrium with the AACT polymorphism reported here. 3260956 1988
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2 		0.010 AlteredExpression disease BEFREE Lymphoblastoid cells from patients with early-onset and late-onset familial Alzheimer's disease showed increased expressions of beta-amyloid precursor mRNA and protein as well as interleukin-1 and alpha 1-antichymotrypsin protein. 8223557 1993
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 GeneticVariation disease BEFREE Alpha-1 antichymotrypsin and alpha-2 macroglobulin gene polymorphisms are not associated with Korean late-onset Alzheimer's disease. 11290389 2001
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 Biomarker disease BEFREE There is conflicting data as to whether alleles of other chaperon proteins (such as alpha-1-antichymotrypsin (ACT)) or Apo-epsilon4 receptors (such as the VDRL receptor) modify the Apo-epsilon4 risk for AD. 9482249 1998
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 GeneticVariation disease BEFREE If AACT genotype has an effect on risk for AD it may be predominantly amongst individuals with early onset AD. 8730823 1996
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 Biomarker disease BEFREE alpha 1-Antichymotrypsin as a risk modifier for late-onset Alzheimer's disease in Japanese apolipoprotein E epsilon 4 allele carriers. 9225693 1997
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease BEFREE Alpha-1-antichymotrypsin gene polymorphism and risk for sporadic Alzheimer's disease in a German population. 10559561 2000
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE Protein-protein interaction (PPI) analysis revealed SERPINA3 and BDNF to possess high node degree interaction with literature derived candidate genes (LDGs) in AD males and females, respectively, thus were selected as potential AD targets. 31543038 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 AlteredExpression disease BEFREE Apolipoprotein E (APOE) genotypes did not independently affect blood ACT levels in both AD and controls; although, among AD patients, female AD patients with APOE 4,4 showed the highest level of serum ACT. 10629358 2000