PROS1, protein S, 5627

N. diseases: 283; N. variants: 57
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 		0.200 Biomarker disease BEFREE Single nucleotide polymorphisms (SNPs) of PROC and PROS1 may be closely associated with DVT in this thrombophilia family. 31295762 2019
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 GeneticVariation disease BEFREE In this report, we present a case of recurrent pulmonary embolism (PE) and deep venous thrombosis (DVT) due to PS deficiency. 29742732 2018
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 GeneticVariation disease BEFREE Rare mutations in PROC, PROS1 or SERPINC1 as well as common variants in F5, F2, F11 and SERPINC1 have been identified as risk factors for deep vein thrombosis (DVT). 26982741 2016
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 Biomarker disease BEFREE Stroke in low PC infants and deep vein thrombosis in low PS/AT school age children could be targeted for genetic screening of pediatric thrombophilias. 26372516 2016
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 GeneticVariation disease BEFREE Therefore, PS Tokushima (K196E) is an important genetic risk factor for DVT in the Japanese population. 20811787 2010
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 GeneticVariation disease BEFREE In this study, a novel PROS1 mutation was identified at the last nucleotide in intron C (c.260-1G>A) in a patient suffering from recurrent deep vein thrombosis associated with PS deficiency. 20022358 2010
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 AlteredExpression disease BEFREE Taken together, this suggested that E(2) might repress PROS1 transcription depending upon ERalpha-Sp1 recruiting transcriptional repressors in HepG2-ERalpha cells and, consequently, that high levels of E(2) leading to reduced levels of plasma PS would be a risk for deep venous thrombosis in pregnant women. 20200160 2010
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 GeneticVariation disease BEFREE The PROS1 K196E mutation found in 15 Japanese DVT patients was the most prevalent. 18954896 2009
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 Biomarker disease BEFREE We are not aware of any previously published report on hereditary PS deficiency combined with CSVT and DVT occurring at high altitude. 18434709 2008
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 GeneticVariation disease BEFREE In conclusion, a large deletion in PROS1 was shown to partly account for DVT with protein S deficiency. 17938802 2007
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 AlteredExpression disease BEFREE The proband suffered from recurrent deep vein thrombosis and showed reduced PS anticoagulant activity (31%), and total, free PS antigen and C4bBP levels in the normal range. 16409468 2006
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 AlteredExpression disease BEFREE Low PS levels are a risk factor for the development of deep venous thrombosis. 16672217 2006
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 GeneticVariation disease BEFREE One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis. 16868938 2006
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 Biomarker disease BEFREE Congenital PS deficiency has been identified in 1-7.5% of patients with DVT and in 0.03-0.13% general Caucasian population. 16026279 2005
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 Biomarker disease BEFREE Sequence analysis of the PS gene showed a heterozygous G-to-A mutation at the first nucleotide of intron N. The patient's father, who had suffered from deep vein thrombosis and had reduced total and free PS antigen (59% and 28%, respectively) was a heterozygote. 12681974 2003
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 Biomarker disease BEFREE Multivariate logistic analysis revealed that the presence of LA, aCL, anti-beta2-glycoprotein I, anti-prothrombin and anti-protein C Abs was not reliable as a risk factor for DVT in non-SLE patients, and that the presence of anti-protein S Abs was the most significant risk factor for DVT (OR, 5.88; 95% CI, 1.96-17.7; p < 0.002). 12428083 2002
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 GeneticVariation disease BEFREE The genomic analysis of a 70-year-old man with recurrent deep venous thrombosis having a protein S (PS)-deficient phenotype corresponding to both type III and type II evidenced two different mutations: a +5 g-->a mutation in the donor splice site of intron e (ivs e) and a ser 460 to Pro mutation. 9616157 1998
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 Biomarker disease HPO