Gene: F11 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation CLINVAR In vitro comparison of the effect of two factor XI (FXI) concentrates on thrombin generation in major FXI deficiency. 26558335

2016
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families. 25158988

2015
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France). 22159456

2012
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. 21668437

2012
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy. 21999818

2012
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Three dominant-negative mutations in factor XI-deficient patients. 21457405

2011
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency. 22016685

2011
dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation 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
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. 18005151

2008
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. 16607084

2006
dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT 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
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. 15026311

2004
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Severe factor XI deficiency caused by compound heterozygosity. 15180874

2004
dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation CLINVAR Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. 15026311

2004
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. 11895778

2002
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Heterozygous factor XI deficiency associated with three novel mutations. 10606881

1999
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Identification of a novel mutation in a non-Jewish factor XI deficient kindred. 10027710

1999
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting. 9787168

1998
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. 9401068

1997
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Identification of two novel mutations in non-Jewish factor XI deficiency. 7669672

1995
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Six point mutations that cause factor XI deficiency. 7888672

1995
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. 1547342

1992
dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation CLINVAR Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. 1547342

1992