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 GeneticVariation CLINVAR Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency. 15749683

2005
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 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 GeneticVariation CLINVAR Severe factor XI deficiency caused by compound heterozygosity. 15180874

2004
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 CausalMutation CLINVAR A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. 15140127

2004
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. 14717969

2004
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation 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 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 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 Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography. 12716376

2003
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. 11895778

2002
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 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 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 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 CausalMutation CLINVAR Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. 1547342

1992
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 CausalMutation CLINVAR Factor XI deficiency in Ashkenazi Jews in Israel. 2052060

1991
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 CausalMutation CLINVAR Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. 2813350

1989