DisGeNET - a database of gene-disease associations

Hereditary Factor XI Deficiency, C0015523

Variant: rs373297713 ×

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:

rs373297713

F11 ; F11-AS1

0.700

CausalMutation

CLINVAR

Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews.

23332144

2013

dbSNP:

rs373297713

F11 ; F11-AS1

0.700

CausalMutation

CLINVAR

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

16835901

2006

dbSNP:

rs373297713

F11 ; F11-AS1

0.700

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