Source: UNIPROT

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 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 Impaired cotranslational processing as a mechanism for type I antithrombin deficiency. 9845533

1998
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 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 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 Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity. 12353073

2002
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 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 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 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 Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. 23910795

2013