PROS1, protein S, 5627

N. diseases: 283; N. variants: 57
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3281092
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease 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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Identification of two novel point mutations in the human protein S gene associated with familial protein S deficiency and thrombosis. 8977443 1996
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease 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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Molecular basis of a hereditary type I protein S deficiency caused by a substitution of Cys for Arg474. 8639833 1996
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Protein S deficiency type I: identification of point mutations in 9 of 10 families. 7579449 1995
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees. 7482398 1995
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein S Study Group. 8943854 1996
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease 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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Five novel mutations of the protein S active gene (PROS 1) in 8 Norman families. 8701404 1996