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: C0272355
Disease: von Willebrand disease, type IIC
von Willebrand disease, type IIC 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.050 None 1.000 5 1982 1995
CUI: C0877456
Disease: Heyde's syndrome
Heyde's syndrome 		disease Disease or Syndrome 1 0.030 None 1.000 3 2018 2020
CUI: C0598480
Disease: intestinal angiodysplasia
intestinal angiodysplasia 		disease Disease or Syndrome 1 0.020 None 1.000 2 2018 2019
CUI: C0272328
Disease: Acquired factor X deficiency disease
Acquired factor X deficiency disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0272356
Disease: von Willebrand disease, type IID
von Willebrand disease, type IID 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 1996 1996
CUI: C0333183
Disease: Partial stenosis
Partial stenosis 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 1 0.010 None 1.000 1 2011 2011
CUI: C0398610
Disease: Congenital von Willebrand's disease
Congenital von Willebrand's disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2002 2002
CUI: C0795843
Disease: Chromosome 12 ring
Chromosome 12 ring 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C0865262
Disease: Thrombopathy
Thrombopathy 		disease Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C1848525
Disease: von Willebrand Disease, Recessive Form
von Willebrand Disease, Recessive Form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 4 0.100 None 1.000 1 4 2019 2019
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: C4017650
Disease: VON WILLEBRAND FACTOR VICENZA PHENOTYPE
VON WILLEBRAND FACTOR VICENZA PHENOTYPE 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0333203
Disease: Occlusive thrombus
Occlusive thrombus 		disease Cardiovascular Diseases Acquired Abnormality 2 0.010 None 1.000 1 2006 2006
CUI: C4087191
Disease: Paravalvular aortic regurgitation
Paravalvular aortic regurgitation 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
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: C4024701
Disease: Reduced von Willebrand factor activity
Reduced von Willebrand factor activity 		phenotype Finding 2 1 0.100 None 0 1
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 5 0.500 None 0.938 16 5 1997 2020
CUI: C0235604
Disease: Qualitative platelet deficiency
Qualitative platelet deficiency 		disease Disease or Syndrome 3 1 0.010 None 1.000 1 1 2013 2013
CUI: C0264774
Disease: Mitral and aortic incompetence
Mitral and aortic incompetence 		disease Cardiovascular Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0472801
Disease: Hemophilia A carrier
Hemophilia A carrier 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 1992 1992
CUI: C0752144
Disease: Brain Thrombosis
Brain Thrombosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.300 None 1.000 1 1987 1987
CUI: C0936263
Disease: Cerebral Thrombus
Cerebral Thrombus 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.300 None 1.000 1 1987 1987
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 3 1 0.010 None 1.000 1 2005 2005
CUI: C1868263
Disease: Platelet Aggregation, Spontaneous
Platelet Aggregation, Spontaneous 		disease Hemic and Lymphatic Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 1 2007 2007
CUI: C2359904
Disease: Aggregated erythrocytes
Aggregated erythrocytes 		phenotype Anatomical Abnormality 3 0.010 None 1.000 1 2018 2018