DisGeNET - a database of gene-disease associations

Antithrombin III Deficiency, C0272375

Gene: SERPINC1 ×

Source: CURATED ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1423630663

SERPINC1

0.700

GeneticVariation

UNIPROT

Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)

7989582

1994

dbSNP:

rs1425532034

SERPINC1

0.700

GeneticVariation

UNIPROT

Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.

7959685

1994

dbSNP:

rs1425532034

SERPINC1

0.700

GeneticVariation

UNIPROT

Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.

8274732

1994

dbSNP:

rs1425532034

SERPINC1

0.700

GeneticVariation

UNIPROT

Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)

7989582

1994

dbSNP:

rs1425532034

SERPINC1

0.700

GeneticVariation

UNIPROT

Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.

7994035

1994

dbSNP:

rs483352854

SERPINC1

0.700

GeneticVariation

UNIPROT

Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)

7989582

1994

dbSNP:

rs483352854

SERPINC1

0.700

GeneticVariation

UNIPROT

Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.

8274732

1994

dbSNP:

rs483352854

SERPINC1

0.700

GeneticVariation

UNIPROT

Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.

7994035

1994

dbSNP:

rs483352854

SERPINC1

0.700

GeneticVariation

UNIPROT

Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.

7959685

1994

dbSNP:

rs1170430756

SERPINC1

0.700

GeneticVariation

UNIPROT

Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

8443391

1993

dbSNP:

rs121909568

SERPINC1 ; ZBTB37

0.700

GeneticVariation

UNIPROT

Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

8443391

1993

dbSNP:

rs1423630663

SERPINC1

0.700

GeneticVariation

UNIPROT

Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

8443391

1993

dbSNP:

rs1425532034

SERPINC1

0.700

GeneticVariation

UNIPROT

Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

8443391

1993

dbSNP:

rs483352854

SERPINC1

0.700

GeneticVariation

UNIPROT

Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

8443391

1993

dbSNP:

rs1170430756

SERPINC1

0.700

GeneticVariation

UNIPROT

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

1555650

1992

dbSNP:

rs1170430756

SERPINC1

0.700

GeneticVariation

UNIPROT

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

1547341

1992

dbSNP:

rs121909568

SERPINC1 ; ZBTB37

0.700

GeneticVariation

UNIPROT

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

1555650

1992

dbSNP:

rs121909568

SERPINC1 ; ZBTB37

0.700

GeneticVariation

UNIPROT

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

1547341

1992

dbSNP:

rs1423630663

SERPINC1

0.700

GeneticVariation

UNIPROT

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

1555650

1992

dbSNP:

rs1423630663

SERPINC1

0.700

GeneticVariation

UNIPROT

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

1547341

1992

dbSNP:

rs1425532034

SERPINC1

0.700

GeneticVariation

UNIPROT

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

1555650

1992

dbSNP:

rs1425532034

SERPINC1

0.700

GeneticVariation

UNIPROT

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

1547341

1992

dbSNP:

rs483352854

SERPINC1

0.700

GeneticVariation

UNIPROT

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

1555650

1992

dbSNP:

rs483352854

SERPINC1

0.700

GeneticVariation

UNIPROT

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

1547341

1992

dbSNP:

rs1170430756

SERPINC1

0.700

GeneticVariation

UNIPROT

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

2013320

1991