DisGeNET - a database of gene-disease associations

Hemophilia A, C0019069

Variant: rs137852358 ×

Source: ALL

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:

rs137852358

0.810

GeneticVariation

UNIPROT

Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization.

23157203

2013

dbSNP:

rs137852358

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: haemophilia A.

21654722

2011

dbSNP:

rs137852358

0.810

GeneticVariation

BEFREE

Also, the only female patient with severe HA was found to have heterozygous non-sense mutation (c.6683G>A) of exon 24.

20236351

2010

dbSNP:

rs137852358

0.810

CausalMutation

CLINVAR

dbSNP:

rs137852358

0.810

CausalMutation

CLINVAR