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:

rs121909550

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.

1555650

1992

dbSNP:

rs121909554

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.

1555650

1992

dbSNP:

rs121909555

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.

1555650

1992

dbSNP:

rs121909557

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.

1555650

1992

dbSNP:

rs121909564

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.

1555650

1992

dbSNP:

rs121909566

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.

1555650

1992

dbSNP:

rs121909568

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.700

GeneticVariation

UNIPROT

Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.

1555650

1992

dbSNP:

rs121909546

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Site-directed mutagenesis of alanine-382 of human antithrombin III.

2013320

1991

dbSNP:

rs121909548

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Site-directed mutagenesis of alanine-382 of human antithrombin III.

2013320

1991

dbSNP:

rs121909549

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Site-directed mutagenesis of alanine-382 of human antithrombin III.

2013320

1991

dbSNP:

rs121909550

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Site-directed mutagenesis of alanine-382 of human antithrombin III.

2013320

1991

dbSNP:

rs121909554

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Site-directed mutagenesis of alanine-382 of human antithrombin III.

2013320

1991

dbSNP:

rs121909555

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Site-directed mutagenesis of alanine-382 of human antithrombin III.

2013320

1991

dbSNP:

rs121909557

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Site-directed mutagenesis of alanine-382 of human antithrombin III.

2013320

1991

dbSNP:

rs121909564

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Site-directed mutagenesis of alanine-382 of human antithrombin III.

2013320

1991

dbSNP:

rs121909566

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Site-directed mutagenesis of alanine-382 of human antithrombin III.

2013320

1991

dbSNP:

rs121909568

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.700

GeneticVariation

UNIPROT

Site-directed mutagenesis of alanine-382 of human antithrombin III.

2013320

1991

dbSNP:

rs121909546

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.

2365065

1990

dbSNP:

rs121909548

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.

2365065

1990

dbSNP:

rs121909549

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.

2365065

1990

dbSNP:

rs121909550

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.

2365065

1990

dbSNP:

rs121909554

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.

2365065

1990

dbSNP:

rs121909555

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.

2365065

1990

dbSNP:

rs121909557

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.

2365065

1990

dbSNP:

rs121909564

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

SERPINC1;ZBTB37

CUI:	C0272375
Disease:

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.

2365065

1990