DisGeNET - a database of gene-disease associations

MCFD2, multiple coagulation factor deficiency 2, ER cargo receptor complex subunit, 90411

N. diseases: 27; N. variants: 9

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:

rs137852913

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

GeneticVariation

UNIPROT

Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency.

20491958

2010

dbSNP:

rs137852914

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

GeneticVariation

UNIPROT

Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency.

20491958

2010

dbSNP:

rs78289603

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

GeneticVariation

UNIPROT

Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency.

20491958

2010

dbSNP:

rs137852913

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

GeneticVariation

UNIPROT

New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2.

18590741

2008

dbSNP:

rs137852913

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

GeneticVariation

UNIPROT

The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene.

18685427

2008

dbSNP:

rs137852914

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

GeneticVariation

UNIPROT

New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2.

18590741

2008

dbSNP:

rs137852914

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

GeneticVariation

UNIPROT

The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene.

18685427

2008

dbSNP:

rs78289603

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

GeneticVariation

UNIPROT

New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2.

18590741

2008

dbSNP:

rs78289603

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

GeneticVariation

UNIPROT

The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene.

18685427

2008

dbSNP:

rs137852913

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

GeneticVariation

UNIPROT

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.

12717434

2003

dbSNP:

rs137852914

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

GeneticVariation

UNIPROT

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.

12717434

2003

dbSNP:

rs78289603

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

GeneticVariation

UNIPROT

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.

12717434

2003

dbSNP:

rs137852913

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852914

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs78289603

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906286

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C4551981
Disease:

Familial Multiple Coagulation Factor Deficiency I

0.700

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs1253799389

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1294221028

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1558461545

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.700

CausalMutation

CLINVAR

dbSNP:

rs387906286

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.700

CausalMutation

CLINVAR

dbSNP:

rs387906287

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.700

CausalMutation

CLINVAR

dbSNP:

rs748641905

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3150889
Disease:

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

0.700

GeneticVariation

UNIPROT

dbSNP:

rs748641905

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C0019069
Disease:

Hemophilia A

0.010

GeneticVariation

BEFREE

The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene.

18685427

2008

dbSNP:

rs748641905

Entrez Id:	90411
Gene Symbol:	MCFD2

MCFD2

CUI:	C3494187
Disease:

Factor VIII Deficiency

0.010

GeneticVariation

BEFREE

The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene.

18685427

2008