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
CUI: C1260403
Disease: prothrombin gene mutation
prothrombin gene mutation 		0.010 GeneticVariation phenotype 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: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.090 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 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: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.010 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: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		0.010 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: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.040 Biomarker disease BEFREE We firstly reported astrocytic IL-17A peaks in CSF within 12 h and in serum at 3 d reperfusion after ischemic stroke. 28441917 2017
CUI: C0085278
Disease: Antiphospholipid Syndrome
Antiphospholipid Syndrome 		0.010 GeneticVariation disease BEFREE We examined the prevalence of prothrombotic polymorphisms (G1691A of factor V gene [FV Leiden] and G20210A of prothrombin [FII] gene), deficiencies of natural anticoagulants (protein C, protein S and antithrombin III) and antiphospholipid syndrome (APS) in patients with early ST-segment elevation MI (STEMI). 28647870 2017
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		0.010 GeneticVariation group BEFREE We examined the prevalence of prothrombotic polymorphisms (G1691A of factor V gene [FV Leiden] and G20210A of prothrombin [FII] gene), deficiencies of natural anticoagulants (protein C, protein S and antithrombin III) and antiphospholipid syndrome (APS) in patients with early ST-segment elevation MI (STEMI). 28647870 2017
CUI: C0036323
Disease: Schistosomiasis
Schistosomiasis 		0.010 Biomarker disease BEFREE We detected the plasma levels of tissue-type fiber plasminogen activator (tPA), urokinase type plasminogen activator (uPA), plasmin-antiplasmin complex (PAP), plasminogen (PLG), antithrombin (AT), plasminogen activator inhibitor 1 (PAI1), D-D, factor VIII: C (FVIII:C), antithrombin-III (AT-III), PLG, protein S (PS), and protein C (PC) in the healthy people as control (69), patients with chronic schistosomiasis (150) or advanced chronic schistosomiasis (90). 28207534 2017
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: C0398623
Disease: Thrombophilia
Thrombophilia 		0.100 Biomarker disease BEFREE We demonstrate the feasibility of performing thrombophilia panel testing of enzymatic functional assays on a microfluidic cartridge using low sample volume.Functional assays for Antithrombin III, Protein C, Factor VIII, and plasminogen were adapted on the digital microfluidic platform by developing novel fluorogenic substrates and establishing on-cartridge fluorescence (360/460 nm) detection. 29206934 2017
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.040 Biomarker disease BEFREE We conclude that variant AT-III, especially in a homozygote, seems to be one cause of ischemic stroke in young adults and that simultaneous measurement of both the biologic and immunologic activities of AT-III is necessary to detect it. 2658206 1989
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: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.040 Biomarker disease BEFREE We conclude that abnormal antithrombin III with defective heparin binding, even though heterozygous, may cause ischemic stroke in young adults. 1448834 1992
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.100 Biomarker disease BEFREE We carried out serologic measures of thrombophilia (homocysteine, anticardiolipin antibodies [ACLA] immunoglobulin G and immunoglobulin M, lupus anticoagulant, factor VIII, factor XI, protein C, total and free protein S, antithrombin III) and hypofibrinolysis (plasminogen activator inhibitor activity [PAI-Fx], lipoprotein[a]). 16154434 2005
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 CausalMutation disease CLINVAR Use of recombinant human antithrombin concentrate in pregnancy. 24082793 2013
CUI: C0087086
Disease: Thrombus
Thrombus 		0.300 Biomarker phenotype CTD_human Urokinase and AT-III concentrate treatment in inferior vena cava thrombosis associated with nephrotic syndrome. 2133253 1990
CUI: C0087086
Disease: Thrombus
Thrombus 		0.300 Therapeutic phenotype CTD_human Urokinase and AT-III concentrate treatment in inferior vena cava thrombosis associated with nephrotic syndrome. 2133253 1990
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.510 Biomarker phenotype CTD_human Urokinase and AT-III concentrate treatment in inferior vena cava thrombosis associated with nephrotic syndrome. 2133253 1990
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.510 Therapeutic phenotype CTD_human Urokinase and AT-III concentrate treatment in inferior vena cava thrombosis associated with nephrotic syndrome. 2133253 1990
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 Biomarker disease BEFREE Up to 80% of patients with antithrombin deficiency have SERPINC1 gene defects, mostly (90% of the 315 gene defects described so far) point mutations or small deletions or insertions affecting the 7 exons or flanking regions. 30005274 2018
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. 23910795 2013
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 CausalMutation disease CLINVAR Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. 23910795 2013
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Two novel gene mutations in type I antithrombin deficiency. 11794707 2001
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease BEFREE Two SERPINC1 mutations causing type II antithrombin deficiency, Arg79Cys and Ser158Pro, were prevalent in the population group. 24162787 2014