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: C4015793
Disease: ANTICHYMOTRYPSIN BOCHUM 1 PHENOTYPE
ANTICHYMOTRYPSIN BOCHUM 1 PHENOTYPE 		0.100 CausalMutation phenotype CLINVAR
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		0.030 GeneticVariation group BEFREE Four out of six individuals with this variant ACT had occlusive-cerebrovascular disease, leading to one hypothesis that there might be an association between this mutation and occlusive-cerebrovascular disease. 1618300 1992
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.030 Biomarker group BEFREE Partial deficiency of alpha 1-antichymotrypsin is associated with chronic cryptogenic liver disease. 1871543 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE Immunocytochemistry of aged cynomolgus brain showed A beta P deposited in blood vessels and diffuse and compacted plaques closely resembling those of humans, and the presence of beta-amyloid-associated proteins (alpha 1-antichymotrypsin; complements C1q and C3c) characteristic of A beta P deposits in Alzheimer's disease. 1905108 1991
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.040 Biomarker disease BEFREE The genes coding for the protease inhibitors alpha 1-antitrypsin (A1AT) and alpha 1-antichymotrypsin (A1ACT) were analysed by Southern blot in patients with rheumatoid arthritis, psoriatic arthritis, psoriasis without arthritis, polymyalgia rheumatica and generalized osteoarthritis. 1974162 1990
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 Biomarker disease BEFREE The frequency of homozygous genotype for the 5.8 kb A1ACT band was increased in osteoarthritis (62.8% versus 36.8%, P = 0.01, relative risk = 2.9, aetiological fraction = 0.41). 1974162 1990
CUI: C0409952
Disease: Idiopathic osteoarthritis
Idiopathic osteoarthritis 		0.010 GeneticVariation disease BEFREE This suggests that the A1ACT gene may influence susceptibility to generalized osteoarthritis. 1974162 1990
CUI: C1384584
Disease: Generalized osteoarthritis
Generalized osteoarthritis 		0.010 GeneticVariation disease BEFREE This suggests that the A1ACT gene may influence susceptibility to generalized osteoarthritis. 1974162 1990
CUI: C0004096
Disease: Asthma
Asthma 		0.100 Biomarker disease BEFREE Among heterozygotes, the prevalence of asthma in first and second degree relatives with low plasma alpha 1-antichymotrypsin concentration was higher than in relatives with normal plasma ACT concentration, but the difference in prevalence did not reach statistical significance [prevalence ratio 3.1 (0.96-9.83), P = 0.059]. 2299303 1990
CUI: C0004096
Disease: Asthma
Asthma 		0.100 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 Heterozygous alpha 1-antichymotrypsin and PiZ alpha 1-antitrypsin deficiency. Prevalence and clinical spectrum in asthmatic children. 2327559 1990
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.050 Biomarker disease BEFREE A biological consequence of enhanced secretion of IFN-beta 2/IL-6 was the ability of media from infected FS-4 cell cultures to enhance by 8-15-fold the synthesis and secretion of a typical acute phase plasma protein (alpha 1-antichymotrypsin) by human hepatoma Hep3B2 cells. 3133443 1988
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.010 Biomarker group BEFREE A biological consequence of enhanced secretion of IFN-beta 2/IL-6 was the ability of media from infected FS-4 cell cultures to enhance by 8-15-fold the synthesis and secretion of a typical acute phase plasma protein (alpha 1-antichymotrypsin) by human hepatoma Hep3B2 cells. 3133443 1988
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE Immunochemical identification of the serine protease inhibitor alpha 1-antichymotrypsin in the brain amyloid deposits of Alzheimer's disease. 3257719 1988
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 Biomarker disease BEFREE Serum levels of 6 protease inhibitors, alpha 1-antitrypsin, Cl inactivator, alpha 2-macroglobulin, antithrombin-3, alpha 1-antichymotrypsin and inter-alpha-trypsin inhibitor were measured in patients with familial amyloidotic polyneuropathy (FAP) and a control group without neurologic disease. 3316509 1987
CUI: C0033845
Disease: Pseudotumor Cerebri
Pseudotumor Cerebri 		0.010 Biomarker disease BEFREE A 20-year-old woman, admitted to a neurological ward with a diagnosis of benign intracranial hypertension, was found on specific protein electroimmunoassay to have a consistently decreased concentration of alpha 1-antichymotrypsin in her plasma. 3840062 1985
CUI: C3899403
Disease: Decreased Concentration
Decreased Concentration 		0.010 Biomarker phenotype BEFREE A 20-year-old woman, admitted to a neurological ward with a diagnosis of benign intracranial hypertension, was found on specific protein electroimmunoassay to have a consistently decreased concentration of alpha 1-antichymotrypsin in her plasma. 3840062 1985
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.030 Biomarker group BEFREE Plasma alpha 1-antichymotrypsin in liver disease. 3877579 1985
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: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		0.010 Biomarker disease BEFREE A small subgroup with low alpha 1-antichymotrypsin/alpha 1-antitrypsin ratio included patients with chronic active hepatitis of unknown etiology. 3877579 1985
CUI: C0152230
Disease: Cholinergic urticaria
Cholinergic urticaria 		0.010 Biomarker disease BEFREE Patients with cholinergic urticaria also showed a reduction of alpha 1 antichymotrypsin. 6968579 1980
CUI: C0221207
Disease: Urticaria due to cold
Urticaria due to cold 		0.010 Biomarker disease BEFREE In cold urticaria there was a significant lowering of alpha 1 antichymotrypsin. 6968579 1980
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: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		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