DisGeNET - a database of gene-disease associations

Hereditary Factor XI Deficiency, C0015523

Gene: F11 ×

Source: INFERRED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121965064

F11

0.810

CausalMutation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs121965064

F11

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

F11

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

F11

0.810

CausalMutation

CLINVAR

Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.

16835901

2006

dbSNP:

rs121965064

F11

0.810

CausalMutation

CLINVAR

Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.

15026311

2004

dbSNP:

rs121965064

F11

0.810

CausalMutation

CLINVAR

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

1547342

1992

dbSNP:

rs121965064

F11

0.810

CausalMutation

CLINVAR

Factor XI deficiency in Ashkenazi Jews in Israel.

2052060

1991

dbSNP:

rs121965064

F11

0.810

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

dbSNP:

rs121965064

F11

0.810

GeneticVariation

CLINVAR

dbSNP:

rs139695003

F11 ; F11-AS1

0.800

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs281875245

F11

0.800

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs281875257

F11

0.800

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs281875272

F11

0.800

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs281875275

F11 ; F11-AS1

0.800

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs28934608

F11

0.800

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs28934609

F11 ; F11-AS1

0.800

CausalMutation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs121965071

F11

0.800

GeneticVariation

CLINVAR

Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

21668437

2012

dbSNP:

rs281875275

F11 ; F11-AS1

0.800

GeneticVariation

CLINVAR

Point mutations regarded as missense mutations cause splicing defects in the factor XI gene.

21718436

2011

dbSNP:

rs768474112

F11

0.800

GeneticVariation

CLINVAR

Mutations in disguise.

21824284

2011

dbSNP:

rs121965069

F11

0.800

GeneticVariation

CLINVAR

Thrombin generation in patients with factor XI deficiency and clinical bleeding risk.

20398070

2010

dbSNP:

rs121965071

F11

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:

rs139695003

F11 ; F11-AS1

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

F11 ; F11-AS1

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

F11 ; F11-AS1

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:

rs281875275

F11 ; F11-AS1

0.800

GeneticVariation

CLINVAR

Factor XI deficiency in Southern Iran: identification of a novel missense mutation.

18758779

2009