Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China. 27067486

2016
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency. 24982842

2014
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 CausalMutation CLINVAR Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews. 23332144

2013
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. 21668437

2012
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR Point mutations regarded as missense mutations cause splicing defects in the factor XI gene. 21718436

2011
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR Characterization of the genetic basis of FXI deficiency in two Turkish patients. 20015217

2010
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 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
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR Prospective analysis of factor XI deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families. 20523169

2009
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR Factor XI deficiency in Southern Iran: identification of a novel missense mutation. 18758779

2009
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR 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
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR Characterisation of five factor XI mutations. 17549289

2007
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR A cross-reactive material positive variant of coagulation factor XI (FXIP520L) with a catalytic defect. 17229051

2007
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 CausalMutation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K). 16079124

2005
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR 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
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency. 15749683

2005
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 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: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR Compound heterozygosity for two novel mutations in a severe factor XI deficiency. 12879434

2003
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 GeneticVariation CLINVAR A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain. 11122101

2000
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.100 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