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: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		disease Disease or Syndrome 1 9 0.700 strong 1.000 5 9 2003 2010
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 6 0.400 strong 1.000 2 1 2006 2019
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 7 0.380 None 1.000 8 2003 2019
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.200 None 1.000 1 2007 2007
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function 34 6 0.100 None 0
CUI: C1844374
Disease: Persistent bleeding after trauma
Persistent bleeding after trauma 		phenotype Finding 9 0.100 None 0
CUI: C0014591
Disease: Epistaxis
Epistaxis 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function 82 4 0.100 None 0
CUI: C4025649
Disease: Reduced factor VIII activity
Reduced factor VIII activity 		phenotype Finding 4 1 0.100 None 0
CUI: C4317320
Disease: Factor V deficiency
Factor V deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 6 1 0.100 None 0
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.060 None 1.000 6 2005 2013
CUI: C0272315
Disease: Coagulation factor deficiency syndrome
Coagulation factor deficiency syndrome 		group Hemic and Lymphatic Diseases Disease or Syndrome 13 2 0.030 None 1.000 3 2004 2012
CUI: C2873785
Disease: Deficiency of factor V [labile]
Deficiency of factor V [labile] 		disease Disease or Syndrome 3 0.020 None 0.500 2 2005 2011
CUI: C0018939
Disease: Hematological Disease
Hematological Disease 		group Hemic and Lymphatic Diseases Disease or Syndrome 255 16 0.020 None 1.000 2 2012 2018
CUI: C0042880
Disease: Vitamin K Deficiency
Vitamin K Deficiency 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 2 0.010 None 1.000 1 2004 2004
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2018 2018
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None 1.000 1 2013 2013
CUI: C3494187
Disease: Factor VIII Deficiency
Factor VIII Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 1 2008 2008
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2013 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None 1.000 1 2013 2013
CUI: C1848534
Disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 6 4 0.010 None 1.000 1 2004 2004
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 143 295 0.010 None 1.000 1 1 2008 2008
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 21 14 0.010 None 1.000 1 2012 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2018 2018
CUI: C0036631
Disease: Seminoma
Seminoma 		disease Neoplasms Neoplastic Process 311 12 0.010 None 1.000 1 2007 2007