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: 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: 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: 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
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: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 19 0.310 None 1.000 3 1 2002 2004
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
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: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder)
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 26 0.010 None 1.000 1 1993 1993
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 202 14 0.010 None 1.000 1 2007 2007
CUI: C0268446
Disease: Thyrotoxic periodic paralysis
Thyrotoxic periodic paralysis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 15 32 0.010 None 1.000 1 2004 2004
CUI: C0270699
Disease: Neonatal maladjustment syndrome
Neonatal maladjustment syndrome
disease Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C0340489
Disease: Lone atrial fibrillation
Lone atrial fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 25 11 0.010 None 1.000 1 1 2008 2008
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: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2007 2007
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: C1720983
Disease: Channelopathies
Channelopathies
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.010 None 1.000 1 2007 2007
Hypokalemic periodic paralysis type 1
disease Disease or Syndrome 12 24 0.010 None 1.000 1 2002 2002
CUI: C0025281
Disease: Meniere Disease
Meniere Disease
disease Otorhinolaryngologic Diseases Disease or Syndrome 69 36 0.010 None 1.000 1 2010 2010
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: C0027849
Disease: Neuroleptic Malignant Syndrome
Neuroleptic Malignant Syndrome
disease Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 16 4 0.010 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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2016 2016
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 105 349 0.310 None 1.000 1 2009 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2007 2007