VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
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: C1855853
Disease: Impaired platelet aggregation
Impaired platelet aggregation 		phenotype Finding 16 0.100 None 0
CUI: C0151563
Disease: Prolonged whole-blood clotting time
Prolonged whole-blood clotting time 		phenotype Hemic and Lymphatic Diseases Finding 4 0.100 None 0
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		phenotype Finding 39 3 0.100 None 0 1
CUI: C0018924
Disease: Hemarthrosis
Hemarthrosis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 13 0.100 None 0
CUI: C4017650
Disease: VON WILLEBRAND FACTOR VICENZA PHENOTYPE
VON WILLEBRAND FACTOR VICENZA PHENOTYPE 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 42 3 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: C4017296
Disease: VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO
VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C4021646
Disease: Prolonged bleeding after surgery
Prolonged bleeding after surgery 		phenotype Pathologic Function 11 0.100 None 0
CUI: C1844374
Disease: Persistent bleeding after trauma
Persistent bleeding after trauma 		phenotype Finding 9 0.100 None 0
CUI: C4023022
Disease: Reduced quantity of Von Willebrand factor
Reduced quantity of Von Willebrand factor 		phenotype Finding 2 1 0.100 None 0 1
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C4024701
Disease: Reduced von Willebrand factor activity
Reduced von Willebrand factor activity 		phenotype Finding 2 1 0.100 None 0 1
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 111 29 0.100 None 0
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: C4025649
Disease: Reduced factor VIII activity
Reduced factor VIII activity 		phenotype Finding 4 1 0.100 None 0
CUI: C0017145
Disease: Gastric Varix
Gastric Varix 		disease Digestive System Diseases Disease or Syndrome 5 0.010 None < 0.001 1 2019 2019
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.010 None < 0.001 1 2018 2018
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None < 0.001 1 2016 2016
CUI: C0085635
Disease: Photopsia
Photopsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 0.010 None < 0.001 1 2017 2017
CUI: C0339467
Disease: Proliferative retinopathy
Proliferative retinopathy 		disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 57 7 0.010 None < 0.001 1 2003 2003
CUI: C0025229
Disease: Melioidosis
Melioidosis 		disease Infections Disease or Syndrome 65 9 0.010 None < 0.001 1 2017 2017
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 79 4 0.010 None < 0.001 1 2019 2019
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 209 37 0.020 None 0.500 2 1 2003 2013