F8, coagulation factor VIII, 2157

N. diseases: 149; N. variants: 275
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: C0019069
Disease: Hemophilia A
Hemophilia A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 143 295 1.000 definitive 0.983 358 267 1977 2020
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 37 15 0.400 strong 0.984 61 8 1988 2019
CUI: C0272325
Disease: Factor 8 deficiency, acquired
Factor 8 deficiency, acquired 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 11 0.370 None 1.000 8 2002 2020
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 117 218 0.330 None 1.000 4 2002 2008
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 0.320 None 1.000 4 1997 2017
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 161 43 0.320 None 1.000 3 2003 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.310 None 1.000 2 2002 2010
CUI: C3494186
Disease: Autosomal Hemophilia A
Autosomal Hemophilia A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.300 None 1.000 2 2002 2005
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 230 93 0.300 None 1.000 1 2006 2006
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.220 None 1.000 3 2005 2019
CUI: C0376618
Disease: Endotoxemia
Endotoxemia 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 401 5 0.200 None 1.000 1 2000 2000
CUI: C0036982
Disease: Shock, Hemorrhagic
Shock, Hemorrhagic 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.200 None 1.000 1 2005 2005
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.180 None 1.000 9 1 2002 2019
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 59 125 0.160 None 1.000 7 20 2012 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 82 8 0.100 None 1.000 55 1 1978 2020
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 62 78 0.100 None 0.962 26 1 1978 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 21 1990 2019
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 11 6 0.100 None 1.000 14 4 1977 2020
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype Finding 59 15 0.100 None 1.000 1 3 2019 2019
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		phenotype Finding 18 1 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.100 None 0
CUI: C0030232
Disease: Pallor
Pallor 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0 1
CUI: C1844374
Disease: Persistent bleeding after trauma
Persistent bleeding after trauma 		phenotype Finding 9 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0