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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2016 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2007 2007
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.020 None 1.000 2 2002 2016
CUI: C0039070
Disease: Syncope
Syncope 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 119 45 0.110 None 1.000 1 2012 2012
CUI: C0040264
Disease: Tinnitus
Tinnitus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 103 14 0.010 None 1.000 1 2011 2011
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2012 2012
CUI: C0035232
Disease: Respiratory Paralysis
Respiratory Paralysis 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Finding 13 1 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0
CUI: C0520886
Disease: ST segment elevation (finding)
ST segment elevation (finding) 		phenotype Cardiovascular Diseases Finding 23 0.100 None 0
CUI: C1855520
Disease: Hyperglycemia, Postprandial
Hyperglycemia, Postprandial 		phenotype Nutritional and Metabolic Diseases Finding 37 0.100 None 0
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue 		phenotype Finding 18 3 0.100 None 0
CUI: C3715208
Disease: AV Block First Degree by ECG Finding
AV Block First Degree by ECG Finding 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 28 0.100 None 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		phenotype Finding 27 0.100 None 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		phenotype Finding 60 0.100 None 0
CUI: C4022754
Disease: Episodic hypokalemia
Episodic hypokalemia 		phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
CUI: C4025572
Disease: Episodic flaccid weakness
Episodic flaccid weakness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 2 0.100 None 0
CUI: C4025578
Disease: Late-onset proximal muscle weakness
Late-onset proximal muscle weakness 		phenotype Finding 7 0.100 None 0
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 30 0.330 None 1.000 5 1 1991 2007
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.040 None 1.000 4 2005 2014
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 10 0.040 None 1.000 4 1 2001 2006
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 66 201 0.510 disputed 1.000 4 2005 2012
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 11 0.040 None 1.000 4 1 2001 2006