F11, coagulation factor XI, 2160

N. diseases: 100; N. variants: 139
Disease: Hereditary Factor XI Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families. 25158988 2015
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. 21668437 2012
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 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: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy. 21999818 2012
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 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: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Three dominant-negative mutations in factor XI-deficient patients. 21457405 2011
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		T 0.800 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
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		T 0.800 GeneticVariation CLINVAR Prospective analysis of factor XI deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families. 20523169 2009
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		T 0.800 GeneticVariation CLINVAR Partial and severe factor XI deficiency in South Australia and the usefulness of factor XI mutation analysis for diagnosis. 18446632 2008
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. 18005151 2008
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. 16607084 2006
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		T 0.800 GeneticVariation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901 2006
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 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: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		T 0.800 GeneticVariation CLINVAR Characterisation of blood coagulation factor XI T475I. 15968392 2005
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. 15026311 2004
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Severe factor XI deficiency caused by compound heterozygosity. 15180874 2004
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. 11895778 2002
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Heterozygous factor XI deficiency associated with three novel mutations. 10606881 1999
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Identification of a novel mutation in a non-Jewish factor XI deficient kindred. 10027710 1999
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting. 9787168 1998
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. 9401068 1997
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Identification of two novel mutations in non-Jewish factor XI deficiency. 7669672 1995
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Six point mutations that cause factor XI deficiency. 7888672 1995
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. 1547342 1992
dbSNP: rs1554083754
rs1554083754
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.800 GeneticVariation UNIPROT Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. 2813350 1989