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 Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 118 130 1.000 0.923 317 125 1962 2018
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 21 0.900 49 21 1995 2017
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 279 125 0.800 0.959 84 18 1994 2017
Conventional (Clear Cell) Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 630 29 0.700 0.946 121 4 1995 2018
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 420 6 0.700 strong 0.944 37 1995 2018
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 245 2 0.600 0.947 23 1995 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2448 409 0.520 1.000 3 1 1994 2005
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1347 175 0.500 0.963 238 7 1989 2018
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 370 33 0.500 1 2002 2002
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 1437 87 0.430 1.000 3 2018 2018
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
disease Neoplasms Neoplastic Process 29 3 0.410 1.000 2 1997 2006
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
disease Neoplastic Process 499 18 0.400 0.979 48 1 1994 2018
CUI: C0032461
Disease: Polycythemia
Polycythemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 74 17 0.400 1.000 22 6 2003 2016
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 168 2 0.360 0.667 15 1996 2016
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 999 73 0.350 0.800 6 1996 2005
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 24 5 0.310 strong 1.000 8 2003 2017
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1176 23 0.310 1.000 2 2003 2005
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic
disease Neoplasms Neoplastic Process 44 0.310 < 0.001 2 2004 2005
VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF
disease Disease or Syndrome 1 47 0.300 17 47 1993 2006
CUI: C0154040
Disease: Benign neoplasm of adrenal gland
Benign neoplasm of adrenal gland
disease Neoplastic Process 22 0.300 definitive 12 1991 2012
Benign neoplasm of aortic body and other paraganglia
disease Neoplastic Process 21 0.300 definitive 12 1991 2012
Malignant neoplasm of aortic body and other paraganglia
disease Neoplastic Process 21 0.300 definitive 12 1991 2012
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
disease Neoplastic Process 21 0.300 definitive 12 1991 2012
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 148 1 0.300 9 1997 2014
Collecting Duct Carcinoma of the Kidney
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 137 0.300 9 1997 2014