Source: INFERRED ×
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 12 0.800 strong 0.993 57 31 2000 2020
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease Neoplasms Neoplastic Process 12 0.800 strong 0.994 0 1996 2020
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 3 0.760 strong 1.000 57 26 2000 2019
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 3 0.720 None 1.000 0 3 2012 2015
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 6 0.600 definitive 1.000 26 16 1997 2015
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 103 0.430 None 1.000 0 2014 2017
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal 		disease Neoplasms Neoplastic Process 14 0.420 None 1.000 0 2005 2008
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 15 0.200 None 0.990 0 2000 2020
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		disease Neoplasms Neoplastic Process 14 0.200 None 0.941 0 1998 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 70 0.200 None 0.983 0 1998 2019
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 20 0.200 None 1.000 0 2006 2019
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma 		disease Neoplasms Neoplastic Process 1 0.180 None 1.000 0 1 2001 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 78 0.150 None 0.800 0 2008 2017
CUI: C0030422
Disease: Extra-Adrenal Paraganglioma
Extra-Adrenal Paraganglioma 		disease Neoplasms Neoplastic Process 4 0.120 None 1.000 0 2009 2012
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 163 0.110 None 1.000 1 1 2015 2015
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		disease Neoplasms Neoplastic Process 14 0.110 None 1.000 0 2015 2015
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 340 0.110 None 1.000 0 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1458 0.110 None 1.000 0 2015 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 67 0.100 None 1.000 72 31 1998 2016
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 0.100 None 1.000 57 41 2000 2016
CUI: C3532243
Disease: Fatal infantile mitochondrial cardiomyopathy
Fatal infantile mitochondrial cardiomyopathy 		disease Disease or Syndrome 1 0.100 None 1.000 1 1 2015 2015
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 0.100 None 0
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 59 0.100 None 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		group Nervous System Diseases Finding 50 0.100 None 0
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 32 0.100 None 0