Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 CausalMutation disease CLINVAR Common genetic risk factors of venous thromboembolism in Western and Asian populations. 26985940 2016
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 CausalMutation disease CLINVAR Exacerbated venous thromboembolism in mice carrying a protein S K196E mutation. 26251307 2015
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 CausalMutation disease CLINVAR Mesenteric venous thrombosis in a child with type 2 protein S deficiency. 21285903 2011
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 CausalMutation disease CLINVAR Genetic analysis of patients with deep vein thrombosis during pregnancy and postpartum. 21811774 2011
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 CausalMutation disease CLINVAR The association of protein S Tokushima-K196E with a risk of deep vein thrombosis. 20811787 2010
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 CausalMutation disease CLINVAR Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. 18954896 2009
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 CausalMutation disease CLINVAR Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency. 19826897 2009
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease UNIPROT Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. 18322254 2008
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 CausalMutation disease CLINVAR Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients. 16461766 2006
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 CausalMutation disease CLINVAR Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers. 16961608 2006
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease UNIPROT Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. 15712227 2005
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease UNIPROT Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency. 15238143 2004
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease UNIPROT Familial thrombophilia is an oligogenetic disease: involvement of the prothrombin G20210A, PROC and PROS gene mutations. 12632031 2003
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease UNIPROT Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S deficiency. 12351389 2002
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease UNIPROT Genetic and phenotypic variability between families with hereditary protein S deficiency. 11858485 2002
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease 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
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease UNIPROT DNA sequence analysis of protein S deficiency--identification of four point mutations in twelve Japanese subjects. 11372770 2001
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease UNIPROT Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families. 11776305 2001
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease 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
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease UNIPROT Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. 10706858 2000
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease UNIPROT Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene. 10613647 1999
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease 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
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease UNIPROT Identification of three novel mutations in hereditary protein S deficiency. 9031443 1997
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease 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
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
0.600 GeneticVariation disease UNIPROT Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden. 8781426 1996