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
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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.200 None 0.953 275 6 1989 2020
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.180 None 1.000 172 59 1994 2017
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: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.958 71 1 1994 2019
CUI: C0206734
Disease: Hemangioblastoma
Hemangioblastoma
disease Neoplasms Neoplastic Process 79 9 0.100 None 0.983 58 6 1989 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.400 None 0.959 49 1 1989 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.956 45 1 1989 2019
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: 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: 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: 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: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.100 None 1.000 12 2002 2017
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
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
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: 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.090 None 1.000 9 1999 2018