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 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 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 BEFREE We have used a strategy of specific amplification of the coding regions and intron/exon boundaries of the active protein S gene (PROS1) and direct single-strand solid phase sequencing, to seek mutations in 35 individuals with phenotypic protein S deficiency. 8943854 1996
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 A hitherto unknown splice site defect in the protein S gene (PROS1): the mutation results in allelic exclusion and causes type I and type III protein S deficiency. 9375743 1997
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 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 Characterization of a large chromosomal deletion in the PROS1 gene of a patient with protein S deficiency type I using long PCR. 8616098 1996
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 GeneticVariation disease BEFREE Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene. 10613647 1999
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 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 These data agree with the notion that hereditary thrombophilia associated with protein S deficiency is indeed directly the result of a defect in the protein S gene. 2521801 1989
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 BEFREE Sixteen Danish unrelated thrombophilic families with plasma protein S deficiency of type 1 (or III) are currently under investigation in our laboratory for defects in the protein S alpha gene. 8865520 1996
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 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 BEFREE Antenatal diagnosis in a second pregnancy was initially performed by indirect restriction fragment length polymorphism (RFLP) tracking using a neutral dimorphism within the PROS gene and served to exclude severe protein S deficiency. 8611698 1996
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 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 Absence of linkage between type III protein S deficiency and the PROS1 and C4BP genes in families carrying the protein S Heerlen allele. 9108398 1997
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 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 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 A novel PROS1 mutation, c.74dupA, was identified in a protein S deficiency family. 27846449 2016