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 GeneticVariation disease 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
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 diversity and thrombotic risk in protein S deficiency: the PROSIT study. 15712227 2005
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: 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
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 protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency. 15238143 2004
CUI: C3281092
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		0.600 GeneticVariation disease UNIPROT Intracerebral mass bleeding in a term neonate: manifestation of hereditary protein S deficiency with a new mutation in the PROS1 gene. 20484936 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.210 Biomarker disease RGD Protein S Protects against Podocyte Injury in Diabetic Nephropathy. 29511111 2018
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.200 Biomarker disease RGD Differential regulation of protein S expression in hepatocytes and sinusoidal endothelial cells in rats with cirrhosis. 16995903 2006
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.200 Biomarker disease HPO
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.200 Biomarker disease HPO
CUI: C0012739
Disease: Disseminated Intravascular Coagulation
Disseminated Intravascular Coagulation 		0.110 Biomarker disease HPO
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.110 Biomarker disease HPO
CUI: C1510431
Disease: Superficial Thrombophlebitis
Superficial Thrombophlebitis 		0.110 Biomarker disease HPO
CUI: C0017086
Disease: Gangrene
Gangrene 		0.100 Biomarker disease HPO
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		0.100 Biomarker disease HPO
CUI: C0034150
Disease: Purpura
Purpura 		0.100 Biomarker disease HPO
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.100 Biomarker group HPO
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		0.100 Biomarker phenotype HPO
CUI: C0040046
Disease: Thrombophlebitis
Thrombophlebitis 		0.100 Biomarker disease HPO
CUI: C0042485
Disease: Venous Insufficiency
Venous Insufficiency 		0.100 Biomarker disease HPO
CUI: C0151942
Disease: Arterial thrombosis
Arterial thrombosis 		0.100 Biomarker phenotype HPO
CUI: C0423757
Disease: Thin skin
Thin skin 		0.100 Biomarker phenotype HPO
CUI: C0456909
Disease: Blindness
Blindness 		0.100 Biomarker phenotype HPO
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C1867638
Disease: Warfarin-induced skin necrosis
Warfarin-induced skin necrosis 		0.100 Biomarker phenotype HPO