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: C3809893
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 2
EPISODIC PAIN SYNDROME, FAMILIAL, 2
disease Disease or Syndrome 1 2 0.700 None 1.000 5 2 2005 2016
CUI: C0004331
Disease: Auriculo-Ventricular Dissociation
Auriculo-Ventricular Dissociation
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 4 0.300 None 1.000 1 2010 2010
CUI: C1721096
Disease: Brugada ECG Pattern
Brugada ECG Pattern
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 4 0.300 None 1.000 1 2013 2013
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia
disease Cardiovascular Diseases Disease or Syndrome 7 14 0.300 None 0
Hereditary Sensory Autonomic Neuropathy, Type 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 5 0.300 None 0
CUI: C1623258
Disease: Electrocardiography
Electrocardiography
phenotype Diagnostic Procedure 8 16 0.100 None 1.000 1 1 2010 2010
CUI: C0429021
Disease: P wave duration (observable entity)
P wave duration (observable entity)
phenotype Clinical Attribute 10 18 0.100 None 1.000 2 2 2014 2017
CUI: C0151854
Disease: Abnormal platelets
Abnormal platelets
phenotype Hemic and Lymphatic Diseases Cell or Molecular Dysfunction 11 0.100 None 0
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 12 0.300 disputed 1.000 8 1998 2017
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 12 0.300 disputed 1.000 8 1998 2017
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 234 0.500 disputed 1.000 9 1998 2017
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 13 0.300 disputed 1.000 8 1998 2017
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 4 0.300 disputed 1.000 8 1998 2017
CUI: C0151879
Disease: Shortened QT interval
Shortened QT interval
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 13 0.300 limited 1.000 1 2005 2005
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 9 0.300 None 0
CUI: C0002768
Disease: Congenital Pain Insensitivity
Congenital Pain Insensitivity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 0.310 None 1.000 1 2014 2014
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease Cardiovascular Diseases Disease or Syndrome 14 5 0.010 None 1.000 1 1 2016 2016
CUI: C0038870
Disease: Neuralgia, Supraorbital
Neuralgia, Supraorbital
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 0.300 None 1.000 1 2008 2008
CUI: C0042656
Disease: Neuralgia, Vidian
Neuralgia, Vidian
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 0.300 None 1.000 1 2008 2008
CUI: C0234247
Disease: Neuralgia, Atypical
Neuralgia, Atypical
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 0.300 None 1.000 1 2008 2008
CUI: C0234249
Disease: Neuralgia, Stump
Neuralgia, Stump
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 0.300 None 1.000 1 2008 2008
CUI: C0423711
Disease: Neuralgia, Perineal
Neuralgia, Perineal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 0.300 None 1.000 1 2008 2008
CUI: C0423712
Disease: Neuralgia, Iliohypogastric Nerve
Neuralgia, Iliohypogastric Nerve
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 0.300 None 1.000 1 2008 2008
CUI: C0751371
Disease: Neuralgia, Ilioinguinal
Neuralgia, Ilioinguinal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 16 0.300 None 1.000 1 2008 2008
CUI: C0751373
Disease: Paroxysmal Nerve Pain
Paroxysmal Nerve Pain
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 16 0.300 None 1.000 1 2008 2008