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: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 limited 0
CUI: C1704374
Disease: Carcinoma of Endocrine Gland
Carcinoma of Endocrine Gland
disease Neoplasms; Endocrine System Diseases Neoplastic Process 22 0.300 strong 0
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
disease Digestive System Diseases; Neoplasms Disease or Syndrome 20 34 0.300 strong 0
CUI: C0349535
Disease: Carcinoid tumor of intestine
Carcinoid tumor of intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 4 0.300 strong 0
CUI: C0206695
Disease: Carcinoma, Neuroendocrine
Carcinoma, Neuroendocrine
disease Neoplasms Neoplastic Process 182 7 0.300 strong 0
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 140 68 0.200 None 0
CUI: C0152132
Disease: Hypertensive Retinopathy
Hypertensive Retinopathy
disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 24 2 0.100 None 0
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder)
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 221 3 0.100 None 0
CUI: C0521670
Disease: Cranial nerve compression
Cranial nerve compression
disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 19 0.100 None 0
CUI: C0522357
Disease: Vertigo, Paroxysmal
Vertigo, Paroxysmal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 16 0.100 None 0
Aplasia/Hypoplasia of the cerebellum
phenotype Finding 116 5 0.100 None 0
CUI: C1527344
Disease: Dysphonia
Dysphonia
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 77 4 0.100 None 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 257 11 0.100 None 0
CUI: C0027497
Disease: Nausea
Nausea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 161 14 0.100 None 0
CUI: C1849749
Disease: Peripheral thrombosis
Peripheral thrombosis
phenotype Pathologic Function 3 0.100 None 0
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.100 None 0
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder
phenotype Skin and Connective Tissue Diseases Finding 114 7 0.100 None 0
CUI: C1853288
Disease: Increased red blood cell mass
Increased red blood cell mass
phenotype Hemic and Lymphatic Diseases Finding 4 0.100 None 0
CUI: C0020649
Disease: Hypotension
Hypotension
phenotype Cardiovascular Diseases Finding 125 2 0.100 None 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis
disease Disease or Syndrome 112 2 0.100 None 0
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C1868394
Disease: Elevated calcitonin
Elevated calcitonin
phenotype Finding 17 0.100 None 0
CUI: C1868393
Disease: Elevated urinary epinephrine
Elevated urinary epinephrine
phenotype Finding 14 0.100 None 0
CUI: C1857175
Disease: Episodic hypertension
Episodic hypertension
phenotype Cardiovascular Diseases Finding 8 0.100 None 0