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: 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: C1332860
Disease: Cauda Equina Paraganglioma
Cauda Equina Paraganglioma 		disease Neoplastic Process 1 0.010 None 1.000 1 2001 2001
CUI: C3532243
Disease: Fatal infantile mitochondrial cardiomyopathy
Fatal infantile mitochondrial cardiomyopathy 		disease Disease or Syndrome 1 1 0.100 None 1.000 1 1 2015 2015
CUI: C4022005
Disease: Carotid paraganglioma
Carotid paraganglioma 		disease Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C3276074
Disease: PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS
PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS 		disease Finding 1 2 0.100 None 0 2
CUI: C4476997
Disease: Abnormal B-type natriuretic peptide level
Abnormal B-type natriuretic peptide level 		phenotype Finding 1 0.100 None 0
CUI: C0263778
Disease: Chronic osteoarthritis
Chronic osteoarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0334416
Disease: Parasympathetic paraganglioma
Parasympathetic paraganglioma 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2013 2013
CUI: C1854336
Disease: PARAGANGLIOMAS 3
PARAGANGLIOMAS 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 2 9 0.010 None 1.000 1 2012 2012
CUI: C0332477
Disease: Erythematous plaque
Erythematous plaque 		phenotype Finding 2 0.100 None 0
CUI: C0474819
Disease: Glomus vagale tumor
Glomus vagale tumor 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 2 0.100 None 0
CUI: C1866555
Disease: Glomus tympanicum paraganglioma
Glomus tympanicum paraganglioma 		disease Neoplasms Neoplastic Process 2 0.100 None 0
CUI: C0338551
Disease: Leprosy neuropathy
Leprosy neuropathy 		disease Infections; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
PARAGANGLIOMAS 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 3 1 0.010 None 1.000 1 2012 2012
CUI: C1868072
Disease: Small intestine carcinoid
Small intestine carcinoid 		disease Neoplasms Neoplastic Process 3 1 0.100 None 0
CUI: C4022606
Disease: Lack of bowel sounds
Lack of bowel sounds 		phenotype Finding 3 0.100 None 0
CUI: C4025629
Disease: Elevated circulating catecholamine level
Elevated circulating catecholamine level 		phenotype Finding 3 0.100 None 0
CUI: C4072942
Disease: Atypical pulmonary carcinoid tumor
Atypical pulmonary carcinoid tumor 		disease Neoplastic Process 3 0.100 None 0
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 4 67 0.020 None 1.000 2 2011 2012
CUI: C0003564
Disease: Aphonia
Aphonia 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 4 0.100 None 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: C1963135
Disease: Hepatic Necrosis, CTCAE 3.0
Hepatic Necrosis, CTCAE 3.0 		phenotype Finding 4 0.100 None 0
CUI: C4024988
Disease: Intestinal carcinoid
Intestinal carcinoid 		disease Digestive System Diseases; Neoplasms Neoplastic Process 4 0.100 None 0
CUI: C4025278
Disease: Stress/infection-induced lactic acidosis
Stress/infection-induced lactic acidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 4 0.100 None 0
CUI: C4025693
Disease: Hypertension associated with pheochromocytoma
Hypertension associated with pheochromocytoma 		disease Cardiovascular Diseases Disease or Syndrome 4 0.100 None 0