DisGeNET - a database of gene-disease associations

Hemophilia B, C0008533

Gene: F9 ×

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:

rs1222227572

0.700

GeneticVariation

UNIPROT

Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities.

1958666

1991

dbSNP:

rs1275708479

0.700

GeneticVariation

UNIPROT

Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities.

1958666

1991

dbSNP:

rs143018900

0.700

GeneticVariation

UNIPROT

Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities.

1958666

1991

dbSNP:

rs387906481

0.800

GeneticVariation

UNIPROT

Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.

2162822

1990

dbSNP:

rs1216516070

0.700

GeneticVariation

UNIPROT

Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.

2162822

1990

dbSNP:

rs1222227572

0.700

GeneticVariation

UNIPROT

Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.

2162822

1990

dbSNP:

rs1275708479

0.700

GeneticVariation

UNIPROT

Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.

2162822

1990

dbSNP:

rs143018900

0.700

GeneticVariation

UNIPROT

Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.

2162822

1990

dbSNP:

rs387906481

0.800

GeneticVariation

UNIPROT

A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.

2372509

1990

dbSNP:

rs1216516070

0.700

GeneticVariation

UNIPROT

A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.

2372509

1990

dbSNP:

rs1222227572

0.700

GeneticVariation

UNIPROT

A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.

2372509

1990

dbSNP:

rs1275708479

0.700

GeneticVariation

UNIPROT

A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.

2372509

1990

dbSNP:

rs143018900

0.700

GeneticVariation

UNIPROT

A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.

2372509

1990

dbSNP:

rs387906481

0.800

GeneticVariation

UNIPROT

Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

2472424

1989

dbSNP:

rs1216516070

0.700

GeneticVariation

UNIPROT

Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

2472424

1989

dbSNP:

rs1222227572

0.700

GeneticVariation

UNIPROT

Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

2472424

1989

dbSNP:

rs1275708479

0.700

GeneticVariation

UNIPROT

Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

2472424

1989

dbSNP:

rs143018900

0.700

GeneticVariation

UNIPROT

Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

2472424

1989

dbSNP:

rs387906481

0.800

GeneticVariation

UNIPROT

Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase.

2592373

1989

dbSNP:

rs1216516070

0.700

GeneticVariation

UNIPROT

Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase.

2592373

1989

dbSNP:

rs1222227572

0.700

GeneticVariation

UNIPROT

Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase.

2592373

1989

dbSNP:

rs1275708479

0.700

GeneticVariation

UNIPROT

Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase.

2592373

1989

dbSNP:

rs143018900

0.700

GeneticVariation

UNIPROT

Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase.

2592373

1989

dbSNP:

rs387906481

0.800

GeneticVariation

UNIPROT

Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.

2714791

1989

dbSNP:

rs1216516070

0.700

GeneticVariation

UNIPROT

Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.

2714791

1989