PROS1, protein S, 5627

N. diseases: 283; N. variants: 57
Disease: Protein S Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE A novel mutation Gly222Arg in PROS1 causing protein S deficiency in a patient with pulmonary embolism. 31743498 2019
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE Recurrent pulmonary embolism associated with deep venous thrombosis diagnosed as protein s deficiency owing to a novel mutation in PROS1: A case report. 29742732 2018
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 Biomarker disease BEFREE Our findings confirm the value of a cut-off FPS level for identifying subjects at increased VTE risk far below the lower limit of the normal range and suggest a place for PROS1 genotyping in PSD diagnosis strategy. 26466767 2016
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE A novel PROS1 mutation, c.74dupA, was identified in a protein S deficiency family. 27846449 2016
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE We herein describe a Korean man with protein S deficiency from a novel nonsense mutation of PROS1. 25255242 2015
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE Mutations in PROS1 were detected in 5 patients and 5 controls reinforcing the observation that inherited protein S deficiency is rare in the general population. 24014240 2013
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE Small and large PROS1 deletions but no other types of rearrangements detected in patients with protein S deficiency. 22627709 2012
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE Although several case reports have described mesenteric venous thrombosis (MVT) in individuals with PSD, most have just reported decreases in the activity or concentration of protein S. We confirmed a nucleotide alteration of PROS1 associated with PSD. 21799399 2011
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE Among all PSD members, a novel missense mutation 1063C→T in exon 10 of protein S alpha (PROS1) was identified, which encoded a substitution of arginine to cysteine at position 355 (R355C) in the first globular domain of laminin A of protein S. Wild-type PROS1 sequences were retained in non-PSD members. 21172841 2010
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease LHGDN The aim of this study was to analyze the functional relevance on mRNA and protein expression of 12 natural PROS1 mutations associated with protein S deficiency. 18322254 2008
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE The aim of this study was to analyze the functional relevance on mRNA and protein expression of 12 natural PROS1 mutations associated with protein S deficiency. 18322254 2008
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE Furthermore, recent studies on the presence of large deletions in PROS1 have increased the number of PSD associated to PROS1 mutations. 17849042 2007
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease LHGDN Furthermore, recent studies on the presence of large deletions in PROS1 have increased the number of PSD associated to PROS1 mutations. 17849042 2007
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease LHGDN With this as background, we evaluated the association of p.Pro667Pro dimorphism with free and total protein S centrally measured in a panel of 119 normal controls, 222 individuals with low protein S and 137 individuals with normal PS levels belonging to 76 families with protein S deficiency enrolled in the ProSIT study. 17157360 2007
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease LHGDN Screening for large deletions in PROS1 might be warranted in PROS1 causative point mutation-negative DVT patients with protein S deficiency. 17938802 2007
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE Screening for large deletions in PROS1 might be warranted in PROS1 causative point mutation-negative DVT patients with protein S deficiency. 17938802 2007
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease LHGDN Characterization of endoplasmic reticulum-associated degradation of a protein S mutant identified in a family of quantitative protein S deficiency. 15893367 2006
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 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: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency. 16885060 2006
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease LHGDN Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. 16363235 2005
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. 16363235 2005
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1. 15550022 2004
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE We have identified 2 PROS1 missense mutations in the exon that encodes the vitamin K-dependent Gla domain of protein S (Gly11Asp and Thr37Met) in kindred with phenotypic protein S deficiency and thrombosis. 12351389 2002
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE Twenty-eight index patients with protein S deficiency and a PROS1 gene defect were studied, together with 109 first-degree relatives. 10706858 2000
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 Biomarker disease BEFREE After her second miscarriage, laboratory diagnosis revealed that the woman was heterozygous for the factor V Leiden mutation and had a functional protein S deficiency as well as anti-protein S and anti-beta 2-glycoprotein I antibodies. 10091395 1999