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 GeneticVariation 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 GeneticVariation disease BEFREE A series of 10 Polish patients with thromboembolic events and antithrombin deficiency: two new c.1154-1 G>C and c.1219-534 A>G SERPINC1 gene splicing mutations. 31157679 2019
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation disease BEFREE Molecular basis of SERPINC1 mutations in Japanese patients with antithrombin deficiency. 31030036 2019
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation disease BEFREE Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in SERPINC1 and a short deletion variant c.572_574delAGA in PROC. 28861852 2018
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 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: 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 GeneticVariation disease BEFREE Inherited quantitative (type I) or qualitative (type II) antithrombin deficiency (ATD) due to mutations in the SERPINC1 gene is a well-known risk factor for venous thromboembolism. 28300866 2017
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation disease BEFREE The analysis of latent antithrombin in 141 unrelated patients with antithrombin deficiency carrying 89 different SERPINC1 mutations identified four cases with higher levels than that of controls: p.Pro439Thr, p.Pro461Ser, p.Met283Val, and p.His401Tyr, the last also with circulating polymers. 28229161 2017
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation disease CLINVAR Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency. 28300866 2017
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation disease BEFREE SERPINC1 gene mutations in antithrombin deficiency. 28317092 2017
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation disease BEFREE A small deletion in SERPINC1 causes type I antithrombin deficiency by promoting endoplasmic reticulum stress. 27708219 2016
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 Biomarker disease BEFREE SERPINC1 was sequenced in 214 cases with a positive test for antithrombin deficiency, including 67 with no deficiency in the sample delivered to our laboratory. 27098529 2016
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 GeneticVariation 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 Heparanase Activates Antithrombin through the Binding to Its Heparin Binding Site. 27322195 2016
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation disease BEFREE Most cases with antithrombin deficiency carried genetic defects affecting exons or flanking regions of SERPINC1.We aimed to identify regulatory mutations inSERPINC1 through sequencing the promoter, intron 1 and 2 of this gene in 23 patients with antithrombin deficiency but without known genetic defects. 27003919 2016
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation disease BEFREE Patients/methods We studied 30 patients with antithrombin deficiency but no defects in the gene encoding this key anticoagulant (SERPINC1). 27214821 2016
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation disease BEFREE This study demonstrates that the search for large gene rearrangements in SERPINC1 can be a useful diagnostic approach, particularly in patients with type I antithrombin deficiency without mutations in SERPINC1. 25083771 2015
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation disease BEFREE Current evidence shows that some SERPINC1 mutations responsible for antithrombin deficiency often present a slightly decreased or normal activity and therefore could not be detected by functional tests. 25298121 2015
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 GeneticVariation disease BEFREE Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency. 24196373 2014
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
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 GeneticVariation disease CLINVAR Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population. 24162787 2014