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: C0239935
Disease: Hematocrit increased
Hematocrit increased 		phenotype Finding 7 1 0.100 None 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 0
CUI: C1849749
Disease: Peripheral thrombosis
Peripheral thrombosis 		phenotype Pathologic Function 3 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases 		phenotype Finding 111 0.100 None 0
CUI: C1868393
Disease: Elevated urinary epinephrine
Elevated urinary epinephrine 		phenotype Finding 14 0.100 None 0
CUI: C1868394
Disease: Elevated calcitonin
Elevated calcitonin 		phenotype Finding 17 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE 		phenotype Finding 64 0.100 None 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype Finding 116 5 0.100 None 0
CUI: C4017161
Disease: RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS 		disease Finding 1 1 0.100 None 0 1
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		phenotype Finding 75 8 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: C4021977
Disease: Visceral angiomatosis
Visceral angiomatosis 		disease Disease or Syndrome 17 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: C4023099
Disease: Elevated urinary dopamine
Elevated urinary dopamine 		phenotype Finding 15 0.100 None 0
CUI: C4024221
Disease: Papillary cystadenoma of the epididymis
Papillary cystadenoma of the epididymis 		disease Neoplastic Process 6 0.100 None 0
CUI: C4025594
Disease: Positive regitine blocking test
Positive regitine blocking test 		phenotype Finding 15 0.100 None 0
CUI: C4025626
Disease: Elevated urinary norepinephrine
Elevated urinary norepinephrine 		phenotype Finding 15 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None 1.000 1 2019 2019
CUI: C1387805
Disease: Episodic paroxysmal anxiety
Episodic paroxysmal anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 0.100 None 0
CUI: C0040053
Disease: Thrombosis
Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 98 0.310 strong 1.000 2 2004 2011
CUI: C0042345
Disease: Varicosity
Varicosity 		disease Cardiovascular Diseases Disease or Syndrome 188 51 0.410 strong 1.000 2 2002 2011
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2012 2012