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: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 2 2 2017 2017
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2019 2019
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
disease Nervous System Diseases Disease or Syndrome 93 36 0.200 None 1.000 3 1970 1997
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 89 17 0.510 strong 1.000 3 2002 2010
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.020 None 1.000 2 2004 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.120 None 0.500 2 1 2013 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.310 strong 1.000 2 2004 2019
CUI: C0001890
Disease: Akinetic Petit Mal
Akinetic Petit Mal
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2004 2004
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.210 None 1.000 1 2017 2017
CUI: C0008489
Disease: Chorea
Chorea
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 168 20 0.400 None 1.000 1 2004 2004
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.500 strong 1.000 1 2004 2004
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 24 134 0.010 None 1.000 1 2019 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2019 2019
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 756 103 0.200 None 1.000 1 2017 2017
CUI: C0152113
Disease: Rheumatic Chorea
Rheumatic Chorea
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2004 2004
CUI: C0238056
Disease: Chorea, Senile
Chorea, Senile
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2004 2004
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 230 24 0.010 None 1.000 1 2015 2015
Mild hereditary factor VIII deficiency disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 11 6 0.010 None < 0.001 1 2015 2015
CUI: C0341869
Disease: Subfertility, Female
Subfertility, Female
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 33 1 0.300 None 1.000 1 2004 2004
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 7 0.300 None 1.000 1 2004 2004
CUI: C0699728
Disease: Chronic progressive chorea
Chronic progressive chorea
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2004 2004
CUI: C0699731
Disease: Hereditary Chorea
Hereditary Chorea
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2004 2004
CUI: C0750940
Disease: Tremor, Rubral
Tremor, Rubral
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 0.300 None 1.000 1 2004 2004
CUI: C0751124
Disease: Epilepsy, Absence, Atypical
Epilepsy, Absence, Atypical
disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2004 2004