PROS1, protein S, 5627

N. diseases: 283; N. variants: 57
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 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 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 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 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 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: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE This article reviews the literature to understand PS and congenital PS deficiency, especially the association of this thrombophilia with pregnancy. 16026279 2005
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 AlteredExpression disease BEFREE Thrombophilia screening after the complete resolution consistently showed mildly decreased protein S (PS) activity with normal PS antigen levels. 21285903 2011
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Hereditary protein S (PS) deficiency is one of the natural anticoagulant deficiencies causing thrombophilia. 31422373 2020
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Investigation for thrombophilia revealed protein S (PS) deficiency in this patient. 18434709 2008
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Previously reported polymorphisms and point mutations leading to PS deficiency and thrombophilia have been analyzed with our structural predictions. 9408945 1997
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE Because individuals affected by the R338L mutation have normal concentrations of PS, we speculated that the Padua hypercoagulation phenotype is due to decreased inhibition of FIXa R338L by PS. 30189336 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Deficiencies of natural anticoagulant proteins including antithrombin (AT), protein C (PC) and protein S (PS) are important causes of inherited thrombophilia. 22627591 2012
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE In conclusion, we identified unique genomic architectures in the intervening sequences of PROS1 that underlie a large intragenic tandem duplication mutation leading to inherited thrombophilia. 24992033 2014
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Anticoagulant protein S (PS) deficiency is a known risk factor for thrombophilia. 10790208 2000
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Hereditary protein S (PS) deficiency is a rare autosomal disorder of the coagulation pathway associated with familial thrombophilia. 12681974 2003
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE Analysis of PROC and PROS1 single nucleotide polymorphisms in a thrombophilia family. 31295762 2019
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Both PC and PS deficiencies have been implicated in thrombophilia. 9241706 1997
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE We processed 10,571 'thrombophilia' related test requests, including antithrombin (AT; n=3470), PC (n=3569), PS (n=3585), APCR (n=2359), factor V Leiden (FVL; n=2659), and prothrombin gene mutation (PGM; n=2103). 30485173 2019
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Because of the presence of a pseudogene and two different forms of PS in plasma, a bound and a free form, it is one of the most difficult thrombophilias to study. 18479427 2008
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE Detected with conventional laboratory tests high-risk thrombophilia was present in 70 patients: deficiencies of antithrombin (AT) (n = 12), protein C (PC) (n = 14), protein S (PS) (n = 6), homozygous factor V Leiden (FVL) mutation (n = 9) and combined types (n = 29). 29782332 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Thrombophilia due to protein C (PC) and protein S (PS) deficiencies is highly prevalent among patients with stage 5 chronic kidney disease and is reported to arise due to extracorporeal circulation during hemodialysis (HD). 31138132 2019
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE In the Chinese population, PS and PC deficiencies are common thrombophilia for VTE during pregnancy and thrombophilia screening should be recommended in all pregnant women who suffer from VTE. 22398278 2012
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE The frequency of thrombophilia, such as antithrombin (AT), protein C (PC), or protein S (PS) gene mutations, was examined in 21 patients with PVT, 6 patients with SMVT, and 6 patients with both PVT and SMVT. 29747524 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort. 9657428 1998
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE We studied the prevalence of antithrombin III (AT III), protein C (PC) and protein S (PS) deficiencies and factor V Leiden mutation in thrombophilia in Taiwan. 9271815 1997