PROS1, protein S, 5627

N. diseases: 283; N. variants: 57
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
disease Disease or Syndrome 1 38 0.600 strong 1.000 35 38 1994 2016
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 6 0.600 strong 1.000 5 6 1995 2012
CUI: C2586160
Disease: Homozygous protein S deficiency
Homozygous protein S deficiency
disease Disease or Syndrome 1 1 0.020 None 1.000 2 1 1994 2010
CUI: C4510896
Disease: Acquired purpura fulminans
Acquired purpura fulminans
phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 1993 1993
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 0
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 0
CUI: C3890030
Disease: PROTEIN S HEERLEN PHENOTYPE
PROTEIN S HEERLEN PHENOTYPE
phenotype Finding 1 1 0.100 None 0 1
CUI: C2584611
Disease: Hereditary protein S deficiency
Hereditary protein S deficiency
disease Hemic and Lymphatic Diseases Disease or Syndrome 2 0.080 None 1.000 8 1995 2016
CUI: C0340704
Disease: Superior mesenteric vein thrombosis
Superior mesenteric vein thrombosis
disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1735914
Disease: Recurrent pulmonary embolism
Recurrent pulmonary embolism
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
Congenital thrombotic disease, due to Protein C deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2001 2001
CUI: C4025284
Disease: Reduced protein S activity
Reduced protein S activity
phenotype Finding 2 3 0.100 None 1.000 1 3 2019 2019
CUI: C1867638
Disease: Warfarin-induced skin necrosis
Warfarin-induced skin necrosis
phenotype Finding 2 0.100 None 0
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia
disease Disease or Syndrome 3 1 0.020 None 1.000 2 2005 2011
CUI: C0751823
Disease: Septic Phlebitis, Sagittal Sinus
Septic Phlebitis, Sagittal Sinus
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.300 None 1.000 1 2008 2008
CUI: C0751824
Disease: Sagittal Sinus Thrombophlebitis
Sagittal Sinus Thrombophlebitis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.300 None 1.000 1 2008 2008
CUI: C3658294
Disease: Hereditary Antithrombin Deficiency
Hereditary Antithrombin Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 1994 1994
CUI: C0040046
Disease: Thrombophlebitis
Thrombophlebitis
disease Cardiovascular Diseases Pathologic Function 3 0.100 None 0
CUI: C4553919
Disease: Superficial Thrombophlebitis, CTCAE
Superficial Thrombophlebitis, CTCAE
phenotype Finding 3 0.100 None 0
CUI: C2363755
Disease: Acquired Protein S Deficiency
Acquired Protein S Deficiency
disease Hemic and Lymphatic Diseases Disease or Syndrome 4 0.020 None 0.500 2 2010 2013
CUI: C0338575
Disease: Sagittal Sinus Thrombosis
Sagittal Sinus Thrombosis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 1 0.300 None 1.000 1 2008 2008
CUI: C1510431
Disease: Superficial Thrombophlebitis
Superficial Thrombophlebitis
disease Cardiovascular Diseases Disease or Syndrome 5 0.110 None 1.000 1 1996 1996
CUI: C1861696
Disease: EAR WAX, WET/DRY
EAR WAX, WET/DRY
disease Disease or Syndrome 6 1 0.010 None 1.000 1 2018 2018
CUI: C0263978
Disease: Disorder of soft tissue
Disorder of soft tissue
group Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2002 2002
CUI: C0239783
Disease: Inguinal pain
Inguinal pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.010 None 1.000 1 2018 2018