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: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GermlineCausalMutation disease ORPHANET Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study. 24684277 2014
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 CausalMutation disease CLINVAR [A heterozygous point mutation G13328A in antithrombin gene causes thrombosis]. 16620552 2005
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 CausalMutation disease CLINVAR Discordant diagnoses obtained by different approaches in antithrombin mutation analysis. 24956267 2014
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 CausalMutation disease CLINVAR Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort. 26748602 2016
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 CausalMutation disease CLINVAR SERPINC1 gene mutations in antithrombin deficiency. 28317092 2017
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 CausalMutation disease CLINVAR Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity. 3080419 1986
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 CausalMutation disease CLINVAR Molecular characterization of antithrombin III (ATIII) variants using polymerase chain reaction. Identification of the ATIII Charleville as an Ala 384 Pro mutation. 2794060 1989
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 CausalMutation disease CLINVAR Heparanase Activates Antithrombin through the Binding to Its Heparin Binding Site. 27322195 2016
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: 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 CausalMutation disease CLINVAR Pleiotropic effects of antithrombin strand 1C substitution mutations. 1469094 1992
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 CausalMutation disease CLINVAR Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI. 1873224 1991
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.500 CausalMutation disease CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 AlteredExpression disease BEFREE The level of antithrombin III was often decreased in patients with preeclampsia - (32.4%), then in the other patients - (17.2%) (P=0.04), but no patient was diagnosed with antithrombin III deficiency (diagnosis: level<60%). 28792912 2018
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.500 AlteredExpression disease BEFREE We screened 1950 deep vein thrombosis (DVT) patients for AT activity and antigen levels. 25811371 2015
CUI: C0012739
Disease: Disseminated Intravascular Coagulation
Disseminated Intravascular Coagulation 		0.330 AlteredExpression disease BEFREE In vivo, administration of FIIa reduced hepatic and renal damage, increased the concentration of fibrinogen, the activities of protein C, the platelet count, APTT, PT, FDP, the level of AT-III and t-PA, decreased the level of PAI-1, and increased survival rate in LPS-induced DIC rabbits. 22728069 2012
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 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 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: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder 		0.090 AlteredExpression disease BEFREE Levels of antithrombin III (AT III), protein C (PC) and protein S (PS) as well as the presence of acquired lupus anticoagulant (LA) and anticardiolipin antibody (ACA) were investigated. 8052955 1994
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder 		0.090 AlteredExpression disease BEFREE Anticardiolipin antibodies (ACA), lupus anticoagulant and deficiencies of proteins C and S and antithrombin III were evaluated by enzyme-linked immunosorbent assay (ELISA), dilute Russell Viper Venom time (dRVVT), coagulometric and chromogenic methods. 15821810 2005
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder 		0.090 AlteredExpression disease BEFREE Protein C, protein S, antithrombin III and lupus anticoagulant activity (LAC) were also evaluated. 8547095 1995
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder 		0.090 AlteredExpression disease BEFREE APC-R was observed to be the commonest defect underlying the Indian DVT as seen in 39.2% of patients followed by elevated ACA (5.3%), PAI (2.8%), presence of LA (2.8%) and reduced ATIII levels (2.8%). 10414451 1999
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.090 AlteredExpression disease BEFREE A member of this family carrying this mutation was also found to be heterozygotic for the MTHFR mutation, factor V Leiden mutation and had low serum levels of antithrombin III, thus resulting in the appearance of recurrent strokes and thrombotic episodes since his early adulthood. 16193256 2005
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.090 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