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: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 3 0.010 None 1.000 1 2018 2018
CUI: C1175175
Disease: Severe Acute Respiratory Syndrome
Severe Acute Respiratory Syndrome
disease Infections; Respiratory Tract Diseases Disease or Syndrome 117 1 0.020 None 1.000 2 2005 2005
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 2003 2003
CUI: C0006277
Disease: Bronchitis
Bronchitis
disease Infections; Respiratory Tract Diseases Disease or Syndrome 58 4 0.010 None 1.000 1 2017 2017
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia
disease Cardiovascular Diseases Disease or Syndrome 47 3 0.010 None 1.000 1 2018 2018
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.010 None 1.000 1 2017 2017
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 413 787 0.010 None 1.000 1 2019 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2019 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 176 52 0.010 None 1.000 1 2003 2003
CUI: C0149778
Disease: Soft Tissue Infection
Soft Tissue Infection
group Infections Disease or Syndrome 38 0.010 None 1.000 1 2019 2019
Muscular Dystrophy, Facioscapulohumeral
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.010 None 1.000 1 2018 2018
Systemic Inflammatory Response Syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 185 9 0.010 None 1.000 1 2017 2017
CUI: C0267446
Disease: Acute gastroenteritis
Acute gastroenteritis
disease Digestive System Diseases Disease or Syndrome 36 1 0.010 None 1.000 1 2010 2010
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.010 None 1.000 1 2011 2011
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 181 29 0.010 None 1.000 1 2017 2017
CUI: C2062441
Disease: Influenza A
Influenza A
disease Disease or Syndrome 563 19 0.010 None 1.000 1 2009 2009
CUI: C3694279
Disease: Middle East Respiratory Syndrome
Middle East Respiratory Syndrome
disease Infections Disease or Syndrome 53 0.010 None 1.000 1 2015 2015
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
disease Disease or Syndrome 30 7 0.010 None 1.000 1 2007 2007
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 92 10 0.010 None 1.000 1 2003 2003
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 2 2 2016 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2016 2016
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 145 2012 2012
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 2 2016 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.100 None 1.000 3 2 2015 2019