DisGeNET - a database of gene-disease associations

Hemophilia A, C0019069

Gene: F8 ×

Source: UNIPROT ×

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:

rs111033615

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

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

23157203

2013

dbSNP:

rs137852374

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:

rs137852403

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:

rs137852406

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:

rs137852410

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:

rs137852428

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:

rs137852431

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:

rs137852442

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:

rs28935203

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:

rs28937282

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:

rs111033615

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: haemophilia A.

21654722

2011

dbSNP:

rs137852358

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: haemophilia A.

21654722

2011

dbSNP:

rs137852374

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: haemophilia A.

21654722

2011

dbSNP:

rs137852403

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: haemophilia A.

21654722

2011

dbSNP:

rs137852406

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: haemophilia A.

21654722

2011

dbSNP:

rs137852410

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: haemophilia A.

21654722

2011

dbSNP:

rs137852428

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: haemophilia A.

21654722

2011

dbSNP:

rs137852431

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: haemophilia A.

21654722

2011

dbSNP:

rs137852442

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: haemophilia A.

21654722

2011

dbSNP:

rs28935203

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: haemophilia A.

21654722

2011

dbSNP:

rs28937282

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: haemophilia A.

21654722

2011

dbSNP:

rs111033615

0.810

GeneticVariation

UNIPROT

11 hemophilia A patients without mutations in the factor VIII encoding gene.

12195713

2002

dbSNP:

rs111033615

0.810

GeneticVariation

UNIPROT

Three novel point mutations causing haemophilia A.

12199686

2002

dbSNP:

rs111033615

0.810

GeneticVariation

UNIPROT

Identification of seven novel mutations of F8C by DHPLC.

12203998

2002