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 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 [Treatment of deep venous thrombosis in the presence of a congenital antithrombin III deficiency. Apropos of the use of purified concentrates]. 6435583 1984
CUI: C3658294
Disease: Hereditary Antithrombin Deficiency
Hereditary Antithrombin Deficiency 		0.340 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: C0040053
Disease: Thrombosis
Thrombosis 		0.510 Therapeutic phenotype CTD_human [Risk of thrombosis with oral contraceptives: value of a thrombophilia screening test]. 8967151 1996
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.510 Biomarker phenotype CTD_human [Risk of thrombosis with oral contraceptives: value of a thrombophilia screening test]. 8967151 1996
CUI: C0087086
Disease: Thrombus
Thrombus 		0.300 Therapeutic phenotype CTD_human [Risk of thrombosis with oral contraceptives: value of a thrombophilia screening test]. 8967151 1996
CUI: C0087086
Disease: Thrombus
Thrombus 		0.300 Biomarker phenotype CTD_human [Risk of thrombosis with oral contraceptives: value of a thrombophilia screening test]. 8967151 1996
CUI: C0012739
Disease: Disseminated Intravascular Coagulation
Disseminated Intravascular Coagulation 		0.330 Biomarker disease CTD_human [Disseminated intravascular coagulation induced by heparin. Treatment with a combination of low-molecular weight heparin and concentrated antithrombin III]. 6233579 1984
CUI: C0012739
Disease: Disseminated Intravascular Coagulation
Disseminated Intravascular Coagulation 		0.330 Therapeutic disease CTD_human [Disseminated intravascular coagulation induced by heparin. Treatment with a combination of low-molecular weight heparin and concentrated antithrombin III]. 6233579 1984
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: C0398623
Disease: Thrombophilia
Thrombophilia 		0.100 GeneticVariation disease BEFREE We studied the prevalence of antithrombin III (AT III), protein C (PC) and protein S (PS) deficiencies and factor V Leiden mutation in thrombophilia in Taiwan. 9271815 1997
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.090 GeneticVariation disease BEFREE We studied the prevalence of antithrombin III (AT III), protein C (PC) and protein S (PS) deficiencies and factor V Leiden mutation in thrombophilia in Taiwan. 9271815 1997
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.500 Biomarker group CTD_human We studied plasma antithrombin III (AT-III), alpha 1-PI, alpha 2-antiplasmin (alpha 2-A), alpha 2-macroglobulin (alpha 2-M) activity, and some blood coagulation and fibrinolysis tests in children with frequently relapsing prednisone-responsive NS. 11304663 2001
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: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease BEFREE We report 22 novel antithrombin gene (SERPINC1) mutations associated with antithrombin deficiency in 17 French and five German families. 16705712 2006
CUI: C0238457
Disease: Thrombosis of renal vein
Thrombosis of renal vein 		0.010 AlteredExpression disease BEFREE We present a case of renal vein thrombosis in a female newborn with normal plasma levels of protein C, protein S and antithrombin III, but with her genotype characterized by the presence of three prothrombotic risk factors: factor V Leiden, methylentetrahydrofolate reductase and platelet glycoprotein IIIa polymorphisms. 11344677 2001
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE We performed a meta-analysis with trial sequential analysis to investigate the associations between the endothelial cell-activated protein C receptor (EPCR) rs9574, F11 rs2289252, F11 rs2036914, FGG rs2066865, FGG rs1049636, CYP4V2 rs13146272, SERPINC1 rs2227589, and GP6 rs1613662 polymorphisms with the risk of VTE. 28353616 2017
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE We investigated the VTE risk associated with SNPs in the GP6 (rs1613662), SERPINC1 (rs2227589), F11 (rs2036914 and rs2289252), FGG (rs2066865), and F12 (rs1801020) genes. 23150947 2013
CUI: C0039730
Disease: Thalassemia
Thalassemia 		0.010 Biomarker group BEFREE We investigated changes in PC, protein S (PS), antithrombin III (AT III) and soluble endothelial protein C receptor (sEPCR) in thalassemia. 30384036 2018
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: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype 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 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: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		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: C3805092
Disease: Methylenetetrahydrofolate reductase gene mutation
Methylenetetrahydrofolate reductase gene mutation 		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