DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Antithrombin III Deficiency ×

Gene: SERPINC1 ×

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:

rs28929469

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

dbSNP:

rs907768931

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.700

GeneticVariation

UNIPROT

dbSNP:

rs765445413

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.700

GeneticVariation

UNIPROT

dbSNP:

rs147266200

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1411331203

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1301351856

SERPINC1 ; ZBTB37

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1188571702

SERPINC1 ; ZBTB37

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.700

GeneticVariation

UNIPROT

dbSNP:

rs387906575

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909573

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909572

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909571

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909569

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909567

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909566

SERPINC1 ; ZBTB37

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909565

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909564

SERPINC1 ; ZBTB37

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909563

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909558

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909557

SERPINC1 ; ZBTB37

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909555

SERPINC1 ; ZBTB37

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909554

SERPINC1 ; ZBTB37

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909552

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909551

SERPINC1

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909550

SERPINC1 ; ZBTB37

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992

dbSNP:

rs121909549

SERPINC1 ; ZBTB37

CUI:	C0272375
Disease:	Antithrombin III Deficiency

Antithrombin III Deficiency

0.800

GeneticVariation

UNIPROT

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

1547341

1992