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 344 186 0.800 None 0.989 190 65 1982 2020
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
disease Neoplasms Neoplastic Process 165 36 0.700 None 0.983 180 4 2001 2020
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.200 None 0.974 117 2001 2020
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 4 67 0.710 None 1.000 104 67 1982 2017
Hereditary Paraganglioma-Pheochromocytoma Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 23 98 0.430 definitive 1.000 55 52 2001 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 0.200 None 0.958 24 2 2003 2019
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.100 None 0.938 16 2 2003 2019
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 0.100 None 0.846 13 2003 2012
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
disease Neoplasms Neoplastic Process 19 7 0.200 None 1.000 12 1 2003 2020
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 15 1 0.400 strong 0.909 11 2001 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 0.900 10 2002 2018
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
disease Digestive System Diseases; Neoplasms Disease or Syndrome 20 34 0.760 None 0.889 9 6 2008 2016
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma
disease Neoplasms Neoplastic Process 7 4 0.080 None 1.000 8 2 2002 2018
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 1.000 8 2003 2017
CUI: C1858592
Disease: Carney Triad
Carney Triad
disease Digestive System Diseases; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 25 6 0.180 None 0.875 8 1 2009 2019
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm
disease Neoplasms Neoplastic Process 8 3 0.070 None 1.000 7 2 2009 2019
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 295 11 0.060 None 1.000 6 2004 2015
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.060 None 0.833 6 2004 2016
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 270 139 0.450 None 1.000 5 2 2008 2015
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.050 None 0.800 5 2004 2016
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 0.350 strong 1.000 5 2004 2017
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
disease Neoplasms Neoplastic Process 38 5 0.450 None 1.000 5 2005 2008
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.050 None 0.800 5 2004 2016
CUI: C0279821
Disease: metastatic pheochromocytoma
metastatic pheochromocytoma
disease Neoplastic Process 8 0.040 None 1.000 4 2008 2020
CUI: C0334419
Disease: Pheochromocytoma, malignant
Pheochromocytoma, malignant
disease Neoplasms; Endocrine System Diseases Neoplastic Process 11 1 0.040 None 1.000 4 2006 2014