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.
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 41 0.600 strong 1.000 45 41 1987 2017
CUI: C2676759
Disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 12 0.700 strong 1.000 7 12 1992 2015
CUI: C0866188
Disease: Renal thrombosis
Renal thrombosis 		disease Disease or Syndrome 1 0.010 None 1.000 1 1996 1996
CUI: C2585960
Disease: Heterozygous protein C deficiency
Heterozygous protein C deficiency 		disease Disease or Syndrome 1 2 0.010 None 1.000 1 2 2009 2009
CUI: C2674322
Disease: Protein C Deficiency, Acquired
Protein C Deficiency, Acquired 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C4329969
Disease: Factor VIII Inactivation
Factor VIII Inactivation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2007 2007
CUI: C4708643
Disease: Acroangiodermatitis of skin
Acroangiodermatitis of skin 		disease Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 6 0.030 None 0.667 3 1995 2018
CUI: C2930896
Disease: Congenital thrombotic disease, due to Protein C deficiency
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 0.510 None 1.000 3 2001 2015
CUI: C0339499
Disease: Central retinal vein occlusion - juvenile
Central retinal vein occlusion - juvenile 		disease Acquired Abnormality 2 0.010 None 1.000 1 1998 1998
CUI: C0341426
Disease: Small intestinal infarction
Small intestinal infarction 		disease Disease or Syndrome 2 0.010 None 1.000 1 1997 1997
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 1995 2011
CUI: C1856143
Disease: HEMOLYTIC UREMIC SYNDROME, TYPICAL
HEMOLYTIC UREMIC SYNDROME, TYPICAL 		disease Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
CUI: C4553919
Disease: Superficial Thrombophlebitis, CTCAE
Superficial Thrombophlebitis, CTCAE 		phenotype Finding 3 0.100 None 0
CUI: C1867596
Disease: Hyperprothrombinemia
Hyperprothrombinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 0.010 None < 0.001 1 2001 2001
CUI: C2363755
Disease: Acquired Protein S Deficiency
Acquired Protein S Deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C0003860
Disease: Arteritis
Arteritis 		phenotype Cardiovascular Diseases Pathologic Function 5 0.300 None 1.000 1 2006 2006
CUI: C3164780
Disease: Clinical sepsis
Clinical sepsis 		phenotype Disease or Syndrome 5 0.010 None 1.000 1 2007 2007
CUI: C1510431
Disease: Superficial Thrombophlebitis
Superficial Thrombophlebitis 		disease Cardiovascular Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0584984
Disease: Heterozygous Factor V Leiden mutation
Heterozygous Factor V Leiden mutation 		disease Disease or Syndrome 6 0.010 None 1.000 1 2008 2008
CUI: C1299567
Disease: Neonatal stroke
Neonatal stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 8 0.010 None 1.000 1 2016 2016
CUI: C4321305
Disease: Consumptive Coagulopathy
Consumptive Coagulopathy 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2012 2012
CUI: C2608079
Disease: WARFARIN SENSITIVITY (disorder)
WARFARIN SENSITIVITY (disorder) 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 8 0.010 None < 0.001 1 1 2011 2011
CUI: C3536663
Disease: Acute deep venous thrombosis
Acute deep venous thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 11 0.010 None 1.000 1 1998 1998