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: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 43 14 0.800 strong 1.000 27 8 1984 2020
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: 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: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.600 None 1.000 23 2000 2019
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: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 230 93 0.500 None 0.947 19 8 1994 2019
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 117 218 0.430 None 1.000 5 2003 2015
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.400 None 0.956 45 3 1996 2020
CUI: C0036690
Disease: Septicemia
Septicemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.400 None 1.000 21 2000 2019
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 181 29 0.400 None 1.000 15 1 2002 2017
CUI: C0040038
Disease: Thromboembolism
Thromboembolism 		phenotype Cardiovascular Diseases Pathologic Function 25 3 0.400 None 1.000 2 3 1994 2019
CUI: C0012739
Disease: Disseminated Intravascular Coagulation
Disseminated Intravascular Coagulation 		disease Hemic and Lymphatic Diseases Disease or Syndrome 117 3 0.380 None 1.000 9 1 2000 2019
CUI: C0085650
Disease: Purpura Fulminans
Purpura Fulminans 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 15 1 0.370 None 1.000 8 1 1994 2018
CUI: C0040053
Disease: Thrombosis
Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 98 0.340 None 1.000 8 1996 2008
CUI: C0087086
Disease: Thrombus
Thrombus 		phenotype Cardiovascular Diseases Pathologic Function 46 0.300 None 1.000 4 1996 2008
CUI: C0034189
Disease: Pyemia
Pyemia 		phenotype Pathological Conditions, Signs and Symptoms; Infections Pathologic Function 24 0.300 None 1.000 2 2002 2007
CUI: C0003860
Disease: Arteritis
Arteritis 		phenotype Cardiovascular Diseases Pathologic Function 5 0.300 None 1.000 1 2006 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.300 None 1.000 1 2012 2012
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 161 43 0.200 None 1.000 55 1 1994 2020
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.110 None 1.000 2 1 2004 2011
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 11 0.110 None 1.000 1 1998 1998
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 41 30 0.100 None 0.947 75 1994 2018
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 46 0.100 None 0.947 57 1995 2019
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.100 None 1.000 11 2009 2019
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.100 None 1.000 10 1995 2019