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: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 279 125 0.800 0.978 161 43 1992 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
disease Neoplasms Neoplastic Process 82 14 0.700 0.944 146 2001 2018
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 322 90 0.700 0.875 97 32 1992 2017
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
disease Digestive System Diseases; Neoplasms Disease or Syndrome 34 20 0.650 1.000 7 2 2004 2015
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 3 40 0.610 1.000 87 40 1979 2017
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 59 0.500 0
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
disease Neoplasms Neoplastic Process 29 3 0.450 1.000 5 2005 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 1437 87 0.400 0
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 137 46 0.340 1.000 4 2008 2015
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.320 strong 1.000 2 2013 2014
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 0.320 strong 1.000 2 2004 2013
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 17 0.320 1.000 2 2006 2015
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.310 strong 1.000 3 2013 2015
Malignant neoplasm of aortic body and other paraganglia
disease Neoplastic Process 21 0.300 definitive 8 2001 2013
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
disease Neoplastic Process 21 0.300 definitive 8 2001 2013
Benign neoplasm of aortic body and other paraganglia
disease Neoplastic Process 21 0.300 definitive 8 2001 2013
CUI: C0154040
Disease: Benign neoplasm of adrenal gland
Benign neoplasm of adrenal gland
disease Neoplastic Process 22 0.300 definitive 8 2001 2013
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
phenotype Finding 8 46 0.300 7 10 2001 2007
CUI: C3552552
Disease: COWDEN SYNDROME 2
COWDEN SYNDROME 2
disease Disease or Syndrome 1 2 0.300 1 2 2008 2008
CUI: C0206695
Disease: Carcinoma, Neuroendocrine
Carcinoma, Neuroendocrine
group Neoplasms Neoplastic Process 82 0.300 strong 0
CUI: C2676500
Disease: COWDEN-LIKE SYNDROME (disorder)
COWDEN-LIKE SYNDROME (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 7 0.300 0
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1347 175 0.200 0.933 16 2003 2016
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
disease Neoplastic Process 15 2 0.180 1.000 8 2004 2013
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma
disease Neoplasms Neoplastic Process 6 7 0.170 1.000 7 1 2002 2015
CUI: C1858592
Disease: Carney Triad
Carney Triad
disease Digestive System Diseases; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 10 6 0.150 1.000 5 1 2011 2016