F11, coagulation factor XI, 2160

N. diseases: 100; N. variants: 139
Disease: Factor XI Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.090 GeneticVariation disease BEFREE Factor XI deficiency (FXID) is a rare bleeding disorder caused by mutations in the F11 gene. 29713955 2018
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.090 GeneticVariation disease BEFREE Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families. 27723456 2018
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.090 GeneticVariation disease BEFREE Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews. 23332144 2013
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.090 GeneticVariation disease BEFREE Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene. 18832909 2008
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.090 GeneticVariation disease BEFREE Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency. 15870541 2005
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.090 GeneticVariation disease BEFREE Curiously, although the index patient inherited both Bernard Soulier syndrome and factor XI deficiency (FXI: C = 1.3%), he had mild bleeding symptoms restricted only to ecchymoses and petechiae. 15823864 2005
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.090 GeneticVariation disease BEFREE We therefore concluded that the insertion of 15 nucleotides in the F11 gene is the causative mutation for factor XI deficiency in Japanese black cattle. 16104386 2005
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.090 GeneticVariation disease BEFREE To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for screening mutations in the factor XI (fXI) gene, we investigated three patients with heterozygous factor XI deficiency. 10606881 1999
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.090 Biomarker disease BEFREE Plasma thromboplastin antecedent (Factor XI) deficiency in a black family. 7235815 1981