Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation LHGDN Four novel FXI gene mutations in three factor XI- deficient patients. 18388506

2008
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation LHGDN Characterisation of five factor XI mutations. 17549289

2007
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation LHGDN Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation LHGDN Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val). 15842381

2005
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation LHGDN Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency. 15870541

2005
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation LHGDN Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K). 16079124

2005
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation LHGDN An Alu-mediated 31.5-kb deletion as the cause of factor XI deficiency in 2 unrelated patients. 15226185

2004
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.020 Biomarker LHGDN Factor XIa and tissue factor activity in patients with coronary artery disease. 18217146

2008
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0021368
Disease: Inflammation
Inflammation 		0.010 Biomarker LHGDN Factor XIa and tissue factor activity in patients with coronary artery disease. 18217146

2008
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.010 Biomarker LHGDN Factor XI in haemostasis and thrombosis: past, present and future. 17597996

2007
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.010 GeneticVariation LHGDN Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val). 15842381

2005
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 GeneticVariation LHGDN The association of high levels of coagulation FXI, FIX and FVIII is thus a new rare high-risk inherited thrombophilia syndrome. 14521595

2003