Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.340 | GeneticVariation | phenotype | LHGDN | Antithrombin Cambridge II (A384S): an underestimated genetic risk factor for venous thrombosis. | 17244682 | 2007 | ||||
|
0.340 | GeneticVariation | phenotype | LHGDN | Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. | 12595305 | 2003 | ||||
|
0.340 | GeneticVariation | phenotype | LHGDN | Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis. | 12894857 | 2003 | ||||
|
0.340 | GeneticVariation | phenotype | LHGDN | Creation of an additional glycosylation site as a mechanism for type I antithrombin deficiency. | 11686319 | 2001 | ||||
|
0.340 | Biomarker | phenotype | CTD_human | Effect of critical injury on plasma antithrombin activity: low antithrombin levels are associated with thromboembolic complications. | 8810955 | 1996 | ||||
|
0.340 | Biomarker | phenotype | CTD_human | Before heparinisation, he was discovered to have a low antithrombin III level (biological activity (B) 60%, immunological level (I) 50) and a further inquiry showed the same abnormality in 4 members of the family, leading to a diagnosis of a congenital deficit: a 35 year old sister with a bilateral post-DVT changes had antithrombin III levels of 70% (B) and 45% (I); two nephews, sons of the affected sister: the one aged 5 years was asymptomatic despite antithrombin III levels of 50% (I) and 70% (B); the other had experience DVT at the age of 2 and, on oral anti-vitamin K drugs, had antithrombin III levels of 55% (I) and 67% (B) at the age of 15 years; the patient's brother died at the age of 29 of cerebral vein thrombosis after pulmonary embolism. | 6435583 | 1984 | ||||
|
0.340 | Biomarker | phenotype | CTD_human | Oral contraceptives, antithrombin- III activity, and postoperative deep-vein thrombosis. | 55783 | 1976 |