Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GermlineCausalMutation disease ORPHANET Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study. 24684277 2014
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease UNIPROT Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. 23910795 2013
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease UNIPROT Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation. 16908819 2006
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis. 12894857 2003
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease UNIPROT Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity. 12353073 2002
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease UNIPROT Two novel gene mutations in type I antithrombin deficiency. 11794707 2001
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease UNIPROT Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate. 11713457 2001
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Impaired cotranslational processing as a mechanism for type I antithrombin deficiency. 9845533 1998
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease UNIPROT The molecular basis of antithrombin deficiency in Belgian and Dutch families. 9759613 1998
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency. 9157604 1997
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. 7959685 1994
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease UNIPROT Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. 7994035 1994
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease UNIPROT Three novel mutations of antithrombin inducing high-molecular-mass compounds. 7981186 1994
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6. 7878627 1994
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease UNIPROT Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp) 7989582 1994
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341 1992