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: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
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: 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: 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: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.200 None 0.988 85 10 1995 2020
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 344 186 0.800 None 0.988 82 28 1995 2020
CUI: C0206734
Disease: Hemangioblastoma
Hemangioblastoma 		disease Neoplasms Neoplastic Process 79 9 0.100 None 0.983 58 6 1989 2019
CUI: C2931852
Disease: Clear-cell metastatic renal cell carcinoma
Clear-cell metastatic renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 260 11 0.100 None 0.951 41 1997 2019
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease Neoplasms Neoplastic Process 165 36 0.500 strong 1.000 39 1 2002 2020
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: 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: 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
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: 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: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.100 None 1.000 15 1 1994 2018
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: 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: C1266044
Disease: Collecting Duct Carcinoma of the Kidney
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: C1334978
Disease: Non-Hereditary Clear Cell Renal Cell Carcinoma
Non-Hereditary Clear Cell Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.100 None 0.900 10 2005 2018
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 134 0.300 None 1.000 9 1997 2014
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.080 None 0.875 8 1995 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.070 None 0.857 7 2001 2019
CUI: C1333955
Disease: central nervous system hemangioblastoma
central nervous system hemangioblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.060 None 1.000 6 2000 2019