SERPINC1, serpin family C member 1, 462

N. diseases: 184; N. variants: 46
Disease: Antithrombin III Deficiency ×
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 CausalMutation disease CLINVAR Use of recombinant human antithrombin concentrate in pregnancy. 24082793 2013
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 BEFREE Therefore, this is the first mutation affecting a regulatory region of the SERPINC1 gene associated with antithrombin deficiency. 22234719 2012
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease BEFREE A novel splice-site mutation c.42-2A>T (IVS1-2A>T) of SERPINC1 in a Korean family with inherited antithrombin deficiency. 21885952 2011
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease CLINVAR A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. 21325262 2011
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease BEFREE Identification of mutations in the SERPINC1 gene has revealed different mechanisms responsible for antithrombin deficiency. 20435622 2010
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease BEFREE Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency. 19760264 2010
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: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation. 16908819 2006
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 GeneticVariation disease BEFREE This thrombus formation was attributed to antithrombin deficiency caused by a novel SERPINCI gene mutation (AT III Akita, M352R). 15338392 2004
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors. 15164384 2004
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. 12595305 2003
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 Biomarker disease MGD Life-threatening thrombosis in mice with targeted Arg48-to-Cys mutation of the heparin-binding domain of antithrombin. 14592998 2003
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis. 12894857 2003
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity. 12353073 2002
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 UNIPROT Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate. 11713457 2001
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene. 10997988 2000
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Impaired cotranslational processing as a mechanism for type I antithrombin deficiency. 9845533 1998
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT The molecular basis of antithrombin deficiency in Belgian and Dutch families. 9759613 1998
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. 9031473 1997
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency. 9157604 1997
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin. 7832187 1995