SERPINC1, serpin family C member 1, 462

N. diseases: 184; N. variants: 46
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Acquired antithrombin III deficiency
0.010 Biomarker disease BEFREE Acquired antithrombin III deficiency: replacement with antithrombin III concentrates in a patient with protein S deficiency accelerates response to therapy. 8291376 1993
CUI: C2585317
Disease: Acquired thrombophilia
Acquired thrombophilia
0.010 Biomarker disease BEFREE CRVO is associated with familial thrombophilia (factor V Leiden, factor VIII, low antithrombin III, homocysteinemia), and CRAO is associated with familial and acquired thrombophilia (low protein C, homocysteinemia, lupus anticoagulant), providing avenues for thromboprophylaxis, and triggering family screening. 18160589 2008
Acth-Independent Macronodular Adrenal Hyperplasia
0.010 AlteredExpression disease BEFREE Patients with CD had higher baseline mean cortisol levels, ATIII activity and vWF:Ag levels compared with adrenal CS. 28226363 2017
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE Protein C, protein S, antithrombin III, and activated protein C resistance (APCR) were assayed. 15309526 2004
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE It has become apparent that RAPC is even more common than deficiencies in protein C, protein S, or antithrombin III (AT-III) and affects an estimated 5% of the general population. 8733870 1996
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 AlteredExpression disease BEFREE Functional tests of hemostasis included evaluations of prothrombin time; activated partial thromboplastin time; levels of fibrinogen, serum homocysteine, protein C and S, and antithrombin III; activated protein-C resistance; and dilute Russell viper venom time. 12473703 2002
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE Evaluation of inherited hypercoagulability in patients with venous thromboembolism includes testing for the functional activity of protein S, protein C, antithrombin III, and for resistance to activated protein C. Resistance to activated protein C can be assessed with plasma as well as with DNA-based assays that are commercially available. 9372103 1996
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE These include AT-III deficiency, protein C and S deficiencies, and APC resistance. 9158617 1997
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 GeneticVariation disease BEFREE We found 22 (48%) patients with the SPS, 11 (24%) with the aPCR phenotype, 5 (11%) with the factor V Leiden mutation, 7 (15%) with the prothrombin gene mutation, 29 (63%) with the MTHFR gene mutation, 11 (24%) with the factor V HR2 haplotype, 11 (24%) with antiphospholipid antibodies, 4 (9%) with PS deficiency, 6 (13%) with PC deficiency, one with the FV Hong Kong mutation, and one with AT-III deficiency. 15609280 2005
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE Fifty six young patients (age <45 yr) with doppler-proven DVT were investigated for the presence of resistance to activated protein C (APC-R), lupus anticoagulant (LA), anticardiolipin antibodies and deficiencies of protein C, protein S, ATIII activities. 10414451 1999
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 GeneticVariation disease BEFREE We detected methylenetetrahydrofolate reductase (MTHFR) A1298C, MTHFR C677T, factor V Leiden, PAI-1, mutant prothrombin G20210A, plasma homocysteine, antithrombin III, protein S and activated protein C resistance. 20868443 2010
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 AlteredExpression disease BEFREE Activated protein C resistance and protein C and antithrombin III levels were determined in women (n = 50) with a history of preeclampsia and in controls (50 women with a previous normal pregnancy). 9065198 1997
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE APC resistance (13.4 %) was detected to be most common in Indian RPL patients followed by PS (10.6 %), PC (9.8 %) and AT deficiency (4.31 %.). 25771983 2015
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE Nine out of fourteen subjects showed APC-resistance but no deficiencies in the anticoagulant proteins AT III, PC and PS. 9555645 1997
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 AlteredExpression disease BEFREE The following laboratory tests were performed: prothrombin time, partial thromboplastin time, fibrinogen levels, antithrombin III, plasmatic fibronectin (as a marker of endothelial damage), haptoglobin (as a marker of intravascular haemolysis), a functional test for APC-R and analysis of factor V Leiden mutation by polymerase chain reaction. 12571435 2002
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
0.300 Therapeutic disease CTD_human Although intravenous heparin is routinely used in the treatment of patients with acute coronary syndromes, this anticoagulant requires antithrombin III as a cofactor, has no affinity to clot-bound thrombin, and is bound or inactivated by several plasma proteins and platelet factor 4. 7923645 1994
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.020 Biomarker disease BEFREE A novel ATIII isoform pattern which was observed in 4/80 children with acute lymphatic leukaemia (ALL) and in 1/4 children with Ewing's sarcoma, has been shown by family studies to be due to a mutant form of ATIII (AT Dublin) in the heterozygous state. 3472589 1987
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.020 AlteredExpression disease BEFREE ASP and ATIII activity was measured in 76 children with ALL treated according to the ALL IC BFM 2002 protocol. 28060110 2017
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
0.010 AlteredExpression disease BEFREE AMI complicated with cerebral infarction has negative correlations with the levels of AT-III and adiponectin, but positively associated with the levels of NT-proBNP, HOMA-IR and HMGB1, possessing certain clinical significance in AMI treatment. 31173318 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.010 AlteredExpression disease BEFREE Conclusion ATIII and protein C levels decreased as severity of AP increased, particularly in cases of biliary AP. 28222624 2017
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.010 AlteredExpression disease BEFREE ASP and ATIII activity was measured in 76 children with ALL treated according to the ALL IC BFM 2002 protocol. 28060110 2017
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 Biomarker disease BEFREE Among these, 14 genes (FTL, K-ALPHA1, LDHA, RPL4, ENO1, ANXA2, RPL9, RPL10, RPL13A, GNB2L1, AMBP, GC, A1BG, and SERPINC1), in addition to previously well-known liver cancer related genes, were confirmed to be differentially expressed in seven liver cancer cell lines and 17 HCC tissues by semi-quantitative RT-PCR. 16820872 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE Our results suggest the increased presence of ATIII commensurate with astrogliosis and association with the neurofibrillary pathology of AD. 8362984 1993
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.010 Biomarker disease BEFREE We conclude that in concert with other amyloid-associated serine protease inhibitors, ATIII may play a role in the pathogenesis of cerebral amyloidosis. 8362984 1993
CUI: C0340293
Disease: Anterior myocardial infarction
Anterior myocardial infarction
0.010 AlteredExpression disease BEFREE AMI complicated with cerebral infarction has negative correlations with the levels of AT-III and adiponectin, but positively associated with the levels of NT-proBNP, HOMA-IR and HMGB1, possessing certain clinical significance in AMI treatment. 31173318 2019