SERPIND1, serpin family D member 1, 3053

N. diseases: 60; N. variants: 5
Disease: Deep Vein Thrombosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.020 GeneticVariation disease BEFREE No carrier reported arterial thrombosis, and only 1 homozygous HCII-deficient patient developed severe deep venous thrombosis, but she also had a de novo Glu100Stop nonsense truncation in the antithrombin gene. 15337701 2004
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.020 Biomarker disease BEFREE Although there have been reports on families in which a heterozygous HCII deficiency is associated with thromboembolic events, several epidemiological studies revealed that heterozygous HCII deficiency is as prevalent among healthy subjects as it is among patients with deep venous thrombosis (DVT). 10494755 1999