F11, coagulation factor XI, 2160

N. diseases: 100; N. variants: 139
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2036914
rs2036914
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C1861172
Disease:
Venous Thromboembolism 		C 0.830 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
dbSNP: rs2036914
rs2036914
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C1861172
Disease:
Venous Thromboembolism 		0.830 GeneticVariation BEFREE Our findings suggest that the risk of VTE by FHMI is not explained by rs8176719 (ABO), rs6025 (F5), rs1799963 (F2), rs2066865 (FGG), and rs2036914 (F11). 31124268 2019
dbSNP: rs2036914
rs2036914
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C1861172
Disease:
Venous Thromboembolism 		0.830 GeneticVariation BEFREE The meta-analysis revealed that the F11 rs2289252, F11 rs2036914, FGG rs2066865, and CYP4V2 rs13146272 polymorphisms were closely related to the development of VTE in the white race under the best genetic models after multiple testing adjustments. 28353616 2017
dbSNP: rs2036914
rs2036914
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C1861172
Disease:
Venous Thromboembolism 		0.830 GeneticVariation BEFREE In F11, the CC genotype for rs2036914 and the CT and TT genotypes for rs2289252 were associated with a significantly higher VTE risk. 23150947 2013
dbSNP: rs2036914
rs2036914
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C1861172
Disease:
Venous Thromboembolism 		0.830 GeneticVariation GWASDB Genetics of venous thrombosis: insights from a new genome wide association study. 21980494 2011
dbSNP: rs121965064
rs121965064
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		C 0.810 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs121965064
rs121965064
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		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
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.810 GeneticVariation UNIPROT Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families. 25158988 2015
dbSNP: rs3756008
rs3756008
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C1861172
Disease:
Venous Thromboembolism 		0.810 GeneticVariation BEFREE A nucleotide variant (rs3756008) in the promoter region of the FXI gene was recently reported for association with venous thromboembolism. 24420855 2014
dbSNP: rs121965064
rs121965064
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		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
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.810 GeneticVariation UNIPROT Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. 21668437 2012
dbSNP: rs121965064
rs121965064
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		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: rs3756008
rs3756008
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C1861172
Disease:
Venous Thromboembolism 		0.810 GeneticVariation GWASDB A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. 22672568 2012
dbSNP: rs121965064
rs121965064
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.810 GeneticVariation UNIPROT Three dominant-negative mutations in factor XI-deficient patients. 21457405 2011
dbSNP: rs121965064
rs121965064
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		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: rs3756008
rs3756008
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C1861172
Disease:
Venous Thromboembolism 		T 0.810 GeneticVariation GWASDB Genetics of venous thrombosis: insights from a new genome wide association study. 21980494 2011
dbSNP: rs3756008
rs3756008
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C1861172
Disease:
Venous Thromboembolism 		T 0.810 GeneticVariation GWASCAT Genetics of venous thrombosis: insights from a new genome wide association study. 21980494 2011
dbSNP: rs121965064
rs121965064
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		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
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.810 GeneticVariation BEFREE Factor XI deficiency is a rare autosomal recessive coagulopathy, which is, however, common among Ashkenazi Jews, in whom the so-called type II (E117X) and type III (F283L) mutations account for 98% of alleles. 18387979 2008
dbSNP: rs121965064
rs121965064
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.810 GeneticVariation UNIPROT Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. 18005151 2008
dbSNP: rs121965064
rs121965064
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		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
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		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
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		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
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.810 GeneticVariation UNIPROT Severe factor XI deficiency caused by compound heterozygosity. 15180874 2004
dbSNP: rs121965064
rs121965064
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.810 GeneticVariation UNIPROT Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. 15026311 2004