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: 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: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 Biomarker disease BEFREE We investigated SERPINC1 defects in Japanese patients with congenital AT deficiency who developed venous thromboembolism or had a family history of deep vein thrombosis. 31030036 2019
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report. 30608445 2019
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE We have identified 2 novel polymorphisms, g.25G>A and g.-1A>T, and 2 known g.67G>A and rs3138521 5' UTR polymorphisms in SERPINC1 regulatory region in Indian patients with DVT for the first time. 27279637 2017
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 Biomarker disease BEFREE Rare mutations in PROC, PROS1 or SERPINC1 as well as common variants in F5, F2, F11 and SERPINC1 have been identified as risk factors for deep vein thrombosis (DVT). 26982741 2016
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: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE We report here the first heterozygous deletion of SERPINC1 exon 1 identified in a 44-year-old man with type I deficiency who developed deep vein thrombosis of the left leg complicated by pulmonary embolism. 25083771 2015
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE Deep vein thrombosis (DVT) has a strong inherited predisposition that is partly explained by the strong genetic risk factors such as mutations in factor V, prothrombin, antithrombin III, protein C and S genes. 25091233 2014
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 Biomarker disease BEFREE Comparison of activated partial thromboplastin time, antithrombin III, D-dimer, lupus anticoagulant, free S protein (PS), C protein, and antiphospholipid and PS antibodies was performed on children with acute VZV and DVT (group I), acute uncomplicated VZV (group II), and 30 healthy controls of both sexes (15 boys and 15 girls, mean age 7.5 ± 2.6 years, group III). 23321260 2013
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE Patients identified preoperatively as having a personal or familial history of DVT and/or PE were referred for hemostatic serum and genetic tests, including % antithrombin III activity (ATIII), protein C and protein S activities, APC resistance, Factor V gene (Leiden) mutations, prothrombin gene mutations, lupus anticoagulant antibody presence, cardiolipin antibody presence, phosphatidyl antibody presence, β2-glycoprotein antibody presence, and serum homocysteine and lipoprotein(a) levels The frequencies of varying abnormalities were identified and compared to the prevalence reported in the literature. 20824408 2011
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 Biomarker disease BEFREE Genetic deficiencies of PROS1, PROC, and SERPINC1 (antithrombin) are risk factors for deep vein thrombosis (DVT). 18954896 2009
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE Of 9 SNPs genotyped in MEGA-2, 3 were strongly associated with DVT (P < .05; false discovery rate < or =.10): rs13146272 in CYP4V2 (risk allele frequency, 0.64), rs2227589 in SERPINC1 (risk allele frequency, 0.10), and rs1613662 in GP6 (risk allele frequency, 0.84). 18349091 2008
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 Biomarker disease CTD_human Effect of critical injury on plasma antithrombin activity: low antithrombin levels are associated with thromboembolic complications. 8810955 1996
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 Biomarker disease CTD_human [Treatment of deep venous thrombosis in the presence of a congenital antithrombin III deficiency. Apropos of the use of purified concentrates]. 6435583 1984
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 Biomarker disease CTD_human Oral contraceptives, antithrombin- III activity, and postoperative deep-vein thrombosis. 55783 1976
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 Biomarker disease HPO