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: C0030421
Disease: Paraganglioma
Paraganglioma 		disease Neoplasms Neoplastic Process 165 36 0.800 strong 0.994 154 14 1996 2020
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 344 186 0.800 strong 0.993 140 33 2000 2020
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 20 34 0.760 strong 1.000 63 26 2000 2019
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.300 strong 1.000 1 2016 2016
CUI: C0206695
Disease: Carcinoma, Neuroendocrine
Carcinoma, Neuroendocrine 		disease Neoplasms Neoplastic Process 182 7 0.300 strong 0
CUI: C0349535
Disease: Carcinoid tumor of intestine
Carcinoid tumor of intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 4 0.300 strong 0
CUI: C1704374
Disease: Carcinoma of Endocrine Gland
Carcinoma of Endocrine Gland 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 22 0.300 strong 0
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 0.600 definitive 1.000 32 16 1997 2015
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.200 None 0.990 101 3 2000 2020
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.100 None 1.000 72 31 1998 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.200 None 0.983 58 4 1998 2019
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 41 0.100 None 1.000 57 41 2000 2016
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 15 1 0.100 None 0.966 29 1 2000 2018
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		disease Neoplasms Neoplastic Process 19 7 0.200 None 0.941 17 3 1998 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 0.941 17 1 2000 2019
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.200 None 1.000 15 1 2006 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 13 2 2004 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 1.000 11 1 2005 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 11 2 2004 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 1.000 10 1 2002 2017
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.090 None 1.000 9 2005 2017
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 0.080 None 0.875 8 2003 2018
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma 		disease Neoplasms Neoplastic Process 7 4 0.180 None 1.000 8 1 2001 2019
CUI: C0023343
Disease: Leprosy
Leprosy 		disease Infections Disease or Syndrome 190 120 0.080 None 1.000 8 2008 2020
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 56 38 0.060 None 1.000 6 2003 2010