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 Biomarker disease GENOMICS_ENGLAND
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 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 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 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: 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 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
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 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 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 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 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 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 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 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 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 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 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