Source: CLINVAR

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 CausalMutation CLINVAR Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation. 25074526

2014
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families. 11127865

2000
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Two factor XI mutations in a Chinese family with factor XI deficiency. 14508802

2003
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 CausalMutation CLINVAR Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews. 23332144

2013
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 CausalMutation CLINVAR 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 CausalMutation CLINVAR Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China. 27067486

2016
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations. 18515884

2008
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion. 15953011

2005
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Compound heterozygosity for two novel mutations in a severe factor XI deficiency. 12879434

2003
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Genetic analysis in FXI deficient patients from northwestern Italy: three novel and one recurrent mutation. 23305485

2013
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency. 19652879

2009
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR 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 CLINVAR Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. 18005151

2008
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Partial and severe factor XI deficiency in South Australia and the usefulness of factor XI mutation analysis for diagnosis. 18446632

2008
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients. 15531455

2004
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 CausalMutation CLINVAR Identification of amino acids in the factor XI apple 3 domain required for activation of factor IX. 10593931

1999
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain. 11122101

2000
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Genetic analysis of a pedigree with combined factor XII and factor XI deficiency. 21192253

2011
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Genetic analysis in Factor XI deficient patients from central China: identification of one novel and seven recurrent mutations. 25681615

2015
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 CausalMutation CLINVAR Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. 15026311

2004
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 CausalMutation CLINVAR In vitro comparison of the effect of two factor XI (FXI) concentrates on thrombin generation in major FXI deficiency. 26558335

2016
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 CausalMutation CLINVAR A classification system for cross-reactive material-negative factor XI deficiency. 15728123

2005
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Factor XI gene mutations in factor XI deficient patients of the Czech Republic. 18839438

2008