DisGeNET - a database of gene-disease associations

F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918478

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity.

1354985

1992

dbSNP:

rs121918479

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity.

1354985

1992

dbSNP:

rs121918480

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity.

1354985

1992

dbSNP:

rs121918481

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity.

1354985

1992

dbSNP:

rs121918482

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity.

1354985

1992

dbSNP:

rs62623459

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity.

1354985

1992

dbSNP:

rs754231232

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity.

1354985

1992

dbSNP:

rs121918477

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His).

1421398

1992

dbSNP:

rs121918478

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His).

1421398

1992

dbSNP:

rs121918479

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His).

1421398

1992

dbSNP:

rs121918480

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His).

1421398

1992

dbSNP:

rs121918481

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His).

1421398

1992

dbSNP:

rs121918482

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His).

1421398

1992

dbSNP:

rs62623459

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His).

1421398

1992

dbSNP:

rs754231232

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His).

1421398

1992

dbSNP:

rs1799963

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C3160733
Disease:

THROMBOPHILIA DUE TO THROMBIN DEFECT

0.700

CausalMutation

CLINVAR

Can maximum ouabain-sensitive 86Rb+ uptake rate be obtained by increasing Na+ influx?

2429850

1986

dbSNP:

rs121918477

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity.

2719946

1989

dbSNP:

rs121918478

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity.

2719946

1989

dbSNP:

rs121918479

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity.

2719946

1989

dbSNP:

rs121918480

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity.

2719946

1989

dbSNP:

rs121918481

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity.

2719946

1989

dbSNP:

rs121918482

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity.

2719946

1989

dbSNP:

rs62623459

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity.

2719946

1989

dbSNP:

rs754231232

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity.

2719946

1989

dbSNP:

rs121918477

Entrez Id:	2147
Gene Symbol:	F2

CUI:	C0020640
Disease:

Inherited Factor II deficiency

0.700

GeneticVariation

UNIPROT

Identification of the primary structural defect in the dysthrombin thrombin Quick I: substitution of cysteine for arginine-382.

3242619

1988