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: 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: C0398623
Disease: Thrombophilia
Thrombophilia
disease Hemic and Lymphatic Diseases Disease or Syndrome 161 43 0.200 None 1.000 55 1 1994 2020
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: 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: 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: 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: 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: 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
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 143 295 0.090 None 0.889 9 1988 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.090 None 1.000 9 1994 2018
Disseminated Intravascular Coagulation
disease Hemic and Lymphatic Diseases Disease or Syndrome 117 3 0.380 None 1.000 9 1 2000 2019
CUI: C0040053
Disease: Thrombosis
Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 98 0.340 None 1.000 8 1996 2008
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 82 8 0.080 None 0.875 8 1988 2018
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
Pyruvate Carboxylase Deficiency Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 33 0.070 None 1.000 7 3 1993 2018
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder
disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 66 14 0.070 None 1.000 7 1995 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.050 None 1.000 5 1996 2017
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 117 218 0.430 None 1.000 5 2003 2015
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency
disease Hemic and Lymphatic Diseases Disease or Syndrome 19 14 0.050 None 1.000 5 1985 2005
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 27 52 0.040 None 1.000 4 1996 2018
CUI: C0021368
Disease: Inflammation
Inflammation
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.040 None 1.000 4 2004 2008
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.040 None 1.000 4 1999 2008
CUI: C0087086
Disease: Thrombus
Thrombus
phenotype Cardiovascular Diseases Pathologic Function 46 0.300 None 1.000 4 1996 2008