Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. 18322254

2008
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. 15712227

2005
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency. 15238143

2004
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Familial thrombophilia is an oligogenetic disease: involvement of the prothrombin G20210A, PROC and PROS gene mutations. 12632031

2003
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S deficiency. 12351389

2002
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Genetic and phenotypic variability between families with hereditary protein S deficiency. 11858485

2002
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 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
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT DNA sequence analysis of protein S deficiency--identification of four point mutations in twelve Japanese subjects. 11372770

2001
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families. 11776305

2001
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 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
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. 10706858

2000
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene. 10613647

1999
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency. 10447256

1999
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Identification of three novel mutations in hereditary protein S deficiency. 9031443

1997
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Protein S deficiency: a database of mutations. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. 9241758

1997
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden. 8781426

1996
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Identification of two novel point mutations in the human protein S gene associated with familial protein S deficiency and thrombosis. 8977443

1996
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa deficiencies. The French Network on Molecular Abnormalities Responsible for Protein C and Protein S Deficiencies. 8765219

1996
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Molecular basis of a hereditary type I protein S deficiency caused by a substitution of Cys for Arg474. 8639833

1996
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein S Study Group. 8943854

1996
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Five novel mutations of the protein S active gene (PROS 1) in 8 Norman families. 8701404

1996
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy. 7545463

1995
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Protein S deficiency type I: identification of point mutations in 9 of 10 families. 7579449

1995
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees. 7482398

1995
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation UNIPROT Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene. 7803790

1995