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: 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: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 295 11 0.900 None 1.000 17 1 1995 2019
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.800 None 0.972 289 14 1989 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 344 186 0.800 None 0.988 82 28 1995 2020
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.700 strong 0.970 236 15 1989 2019
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 664 22 0.700 strong 0.973 37 1 1995 2019
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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.530 None 1.000 4 2 1994 2005
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.510 None 1.000 2 1995 2002
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
disease Neoplasms Neoplastic Process 165 36 0.500 strong 1.000 39 1 2002 2020
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis
phenotype Hemic and Lymphatic Diseases Finding 9 1 0.500 strong 1.000 2 2007 2011
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
disease Neoplasms Neoplastic Process 38 5 0.410 None 1.000 2 1997 2006
CUI: C0042345
Disease: Varicosity
Varicosity
disease Cardiovascular Diseases Disease or Syndrome 188 51 0.410 strong 1.000 2 2002 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.400 None 0.959 49 1 1989 2019
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 665 21 0.400 None 0.973 37 1 1994 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.400 None 1.000 24 1994 2019
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 46 4 0.400 strong 1.000 1 2016 2016
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 223 3 0.370 None 0.938 16 1996 2019
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.350 None 1.000 6 1996 2005
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.330 strong 1.000 4 2005 2019
Collecting Duct Carcinoma of the Kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 162 0.310 None 1.000 10 1997 2014
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 185 2 0.310 None 1.000 10 1997 2014
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic
disease Neoplasms Neoplastic Process 45 0.310 None 1.000 2 2003 2005
CUI: C0040053
Disease: Thrombosis
Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 98 0.310 strong 1.000 2 2004 2011