Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. 23910795

2014

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation. 16908819

2006

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors. 15164384

2004

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. 12595305

2003

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity. 12353073

2003

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis. 12894857

2003

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Two novel gene mutations in type I antithrombin deficiency. 11794707

2001

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate. 11713457

2001

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene. 10997988

2000

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Impaired cotranslational processing as a mechanism for type I antithrombin deficiency. 9845533

1999

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT The molecular basis of antithrombin deficiency in Belgian and Dutch families. 9759613

1998

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. 9031473

1997

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency. 9157604

1997

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6. 7878627

1995

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. 7994035

1995

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin. 7832187

1995

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp) 7989582

1995

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Antithrombin-TRI (Ala382 to Thr) causing severe thromboembolic tendency undergoes the S-to-R transition and is associated with a plasma-inactive high-molecular-weight complex of aggregated antithrombin. 7734359

1995

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis. 8274732

1994

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Three novel mutations of antithrombin inducing high-molecular-mass compounds. 7981186

1994

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. 7959685

1994

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis. 8443391

1993

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT A recurrent deletion in the antithrombin gene, AT106-108(-6 bp), identified by DNA heteroduplex detection. 8486379

1993

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341

1992

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 GeneticVariation UNIPROT Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F. 1555650

1992