Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.700 | GeneticVariation | UNIPROT | Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. | 18322254 | 2008 |
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0.700 | GeneticVariation | UNIPROT | Familial thrombophilia is an oligogenetic disease: involvement of the prothrombin G20210A, PROC and PROS gene mutations. | 12632031 | 2003 |
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0.700 | GeneticVariation | UNIPROT | Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S deficiency. | 12351389 | 2002 |
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0.700 | 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 |
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0.700 | GeneticVariation | UNIPROT | Genetic and phenotypic variability between families with hereditary protein S deficiency. | 11858485 | 2002 |
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0.700 | GeneticVariation | UNIPROT | Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families. | 11776305 | 2001 |
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0.700 | GeneticVariation | UNIPROT | Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. | 10706858 | 2000 |
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0.700 | 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 |
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0.700 | 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 |
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0.700 | GeneticVariation | UNIPROT | Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene. | 10613647 | 1999 |
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0.700 | GeneticVariation | UNIPROT | Identification of three novel mutations in hereditary protein S deficiency. | 9031443 | 1997 |
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0.700 | GeneticVariation | UNIPROT | Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein S Study Group. | 8943854 | 1996 |
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0.700 | 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 |
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0.700 | GeneticVariation | UNIPROT | Identification of two novel point mutations in the human protein S gene associated with familial protein S deficiency and thrombosis. | 8977443 | 1996 |
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0.700 | GeneticVariation | UNIPROT | Five novel mutations of the protein S active gene (PROS 1) in 8 Norman families. | 8701404 | 1996 |
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0.700 | GeneticVariation | UNIPROT | Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden. | 8781426 | 1996 |
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0.700 | 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 |
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0.700 | GeneticVariation | UNIPROT | Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees. | 7482398 | 1995 |
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0.700 | GeneticVariation | UNIPROT | Protein S deficiency type I: identification of point mutations in 9 of 10 families. | 7579449 | 1995 |
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0.700 | GeneticVariation | UNIPROT | Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S. | 8298131 | 1994 |