PROS1, protein S, 5627

N. diseases: 283; N. variants: 57
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		C 0.800 CausalMutation CLINVAR Common genetic risk factors of venous thromboembolism in Western and Asian populations. 26985940 2016
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		C 0.800 CausalMutation CLINVAR Exacerbated venous thromboembolism in mice carrying a protein S K196E mutation. 26251307 2015
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		C 0.800 CausalMutation CLINVAR Genetic analysis of patients with deep vein thrombosis during pregnancy and postpartum. 21811774 2011
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		C 0.800 CausalMutation CLINVAR Mesenteric venous thrombosis in a child with type 2 protein S deficiency. 21285903 2011
dbSNP: rs121918473
rs121918473
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists. 20027064 2010
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		C 0.800 CausalMutation CLINVAR The association of protein S Tokushima-K196E with a risk of deep vein thrombosis. 20811787 2010
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists. 20027064 2010
dbSNP: rs387906675
rs387906675
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3281092
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Intracerebral mass bleeding in a term neonate: manifestation of hereditary protein S deficiency with a new mutation in the PROS1 gene. 20484936 2010
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		C 0.800 CausalMutation CLINVAR Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency. 19826897 2009
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		C 0.800 CausalMutation CLINVAR Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. 18954896 2009
dbSNP: rs121918473
rs121918473
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. 18322254 2008
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. 18322254 2008
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		C 0.800 CausalMutation CLINVAR Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers. 16961608 2006
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		C 0.800 CausalMutation CLINVAR Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients. 16461766 2006
dbSNP: rs121918473
rs121918473
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Familial thrombophilia is an oligogenetic disease: involvement of the prothrombin G20210A, PROC and PROS gene mutations. 12632031 2003
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Familial thrombophilia is an oligogenetic disease: involvement of the prothrombin G20210A, PROC and PROS gene mutations. 12632031 2003
dbSNP: rs121918473
rs121918473
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Genetic and phenotypic variability between families with hereditary protein S deficiency. 11858485 2002
dbSNP: rs121918473
rs121918473
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S deficiency. 12351389 2002
dbSNP: rs121918473
rs121918473
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Four missense mutations identified in the protein S gene of thrombosis patients with protein S deficiency: effects on secretion and anticoagulant activity of protein S. 11927129 2002
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S deficiency. 12351389 2002
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Genetic and phenotypic variability between families with hereditary protein S deficiency. 11858485 2002
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Four missense mutations identified in the protein S gene of thrombosis patients with protein S deficiency: effects on secretion and anticoagulant activity of protein S. 11927129 2002
dbSNP: rs121918473
rs121918473
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families. 11776305 2001
dbSNP: rs121918474
rs121918474
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families. 11776305 2001
dbSNP: rs121918473
rs121918473
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants. 10790208 2000