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: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 3 3 2012 2019
CUI: C4225340
Disease: BRUGADA SYNDROME 9
BRUGADA SYNDROME 9
disease Disease or Syndrome 1 2 0.600 None 1.000 2 2 2011 2012
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0429021
Disease: P wave duration (observable entity)
P wave duration (observable entity)
phenotype Clinical Attribute 10 18 0.100 None 1.000 1 1 2014 2014
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval
phenotype Finding 57 138 0.100 None 1.000 1 1 2019 2019
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
phenotype Laboratory Procedure 82 123 0.100 None 1.000 1 1 2012 2012
EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION
disease Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
Autosomal dominant cerebellar ataxia
disease Disease or Syndrome 31 2 0.010 None 1.000 1 2002 2002
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype Finding 75 24 0.100 None 0
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit
phenotype Finding 25 1 0.100 None 0
Impaired vibration sensation at ankles
phenotype Finding 9 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype Finding 165 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE
phenotype Finding 64 0.100 None 0
CUI: C4024768
Disease: Intermittent microsaccadic pursuits
Intermittent microsaccadic pursuits
phenotype Finding 2 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 0.110 None 1.000 1 2015 2015
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2013 2013
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2013 2013
CUI: C0520886
Disease: ST segment elevation (finding)
ST segment elevation (finding)
phenotype Cardiovascular Diseases Finding 23 0.100 None 0
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 66 201 0.560 disputed 1.000 9 2 1999 2019
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 5 1999 2015
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 234 0.300 disputed 1.000 5 1999 2015
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 7 0.740 None 0.857 7 7 2005 2018