DisGeNET - a database of gene-disease associations

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:

rs121909546

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

23910795

2013

dbSNP:

rs121909548

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

23910795

2013

dbSNP:

rs121909549

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

23910795

2013

dbSNP:

rs121909550

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

23910795

2013

dbSNP:

rs121909554

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

23910795

2013

dbSNP:

rs121909555

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

23910795

2013

dbSNP:

rs121909557

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

23910795

2013

dbSNP:

rs121909564

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

23910795

2013

dbSNP:

rs121909566

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

23910795

2013

dbSNP:

rs121909546

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

20027064

2010

dbSNP:

rs121909548

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

20027064

2010

dbSNP:

rs121909549

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

20027064

2010

dbSNP:

rs121909550

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

20027064

2010

dbSNP:

rs121909554

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

20027064

2010

dbSNP:

rs121909555

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

20027064

2010

dbSNP:

rs121909557

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

20027064

2010

dbSNP:

rs121909564

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

20027064

2010

dbSNP:

rs121909566

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

20027064

2010

dbSNP:

rs121909546

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

16908819

2006

dbSNP:

rs121909548

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

16908819

2006

dbSNP:

rs121909549

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

16908819

2006

dbSNP:

rs121909550

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

16908819

2006

dbSNP:

rs121909554

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

16908819

2006

dbSNP:

rs121909555

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

16908819

2006

dbSNP:

rs121909557

Entrez Id:	462;84614
Gene Symbol:	SERPINC1;ZBTB37

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

16908819

2006