VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
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: C0015826
Disease: Fenestration (morphologic abnormality)
Fenestration (morphologic abnormality) 		disease Acquired Abnormality 43 0.010 None 1.000 1 2012 2012
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system 		disease Anatomical Abnormality 16 0.100 None 0
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.020 None 1.000 2 2000 2007
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 23 2 0.010 None 1.000 1 2013 2013
CUI: C3888391
Disease: Nonnuclear polymorphic congenital cataract
Nonnuclear polymorphic congenital cataract 		disease Congenital Abnormality 71 0.010 None 1.000 1 2013 2013
CUI: C0003076
Disease: Aniridia
Aniridia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.100 None 0
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 163 23 0.100 None 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 limited 0
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 1.000 None 0.974 387 179 1976 2020
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 54 0.900 None 1.000 123 54 1976 2016
CUI: C0032461
Disease: Polycythemia
Polycythemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 82 22 0.700 strong 1.000 17 7 2003 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 1.000 14 1995 2018
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 23 98 0.300 definitive 1.000 12 1991 2011
CUI: C4749274
Disease: Chuvash erythrocytosis
Chuvash erythrocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 17 2 0.100 None 1.000 11 1 2004 2019
CUI: C3267003
Disease: Vascular endothelial growth factor overexpression
Vascular endothelial growth factor overexpression 		disease Disease or Syndrome 26 0.040 None 1.000 4 2002 2019
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.030 None 0.667 3 2001 2015
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 170 17 0.030 None 1.000 3 2006 2010
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 391 7 0.120 None 1.000 2 2007 2011
CUI: C0030283
Disease: Pancreatic Cyst
Pancreatic Cyst 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 60 4 0.120 None 1.000 2 2 2002 2015
CUI: C0042345
Disease: Varicosity
Varicosity 		disease Cardiovascular Diseases Disease or Syndrome 188 51 0.410 strong 1.000 2 2002 2011
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.020 None 1.000 2 2015 2019
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 25 8 0.210 None 1.000 2 1 2007 2008
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.020 None 1.000 2 2014 2019