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: C0948786
Disease: Blanching
Blanching 		phenotype Sign or Symptom 7 0.010 None 1.000 1 2018 2018
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: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		disease Disease or Syndrome 30 7 0.010 None 1.000 1 2007 2007
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: C0149778
Disease: Soft Tissue Infection
Soft Tissue Infection 		group Infections Disease or Syndrome 38 0.010 None 1.000 1 2019 2019
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia 		disease Cardiovascular Diseases Disease or Syndrome 47 3 0.010 None 1.000 1 2018 2018
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: C0006277
Disease: Bronchitis
Bronchitis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 58 4 0.010 None 1.000 1 2017 2017
CUI: C0024031
Disease: Low Back Pain
Low Back Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 88 11 0.010 None 1.000 1 2009 2009
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
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: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
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
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 173 375 0.010 None 1.000 1 1997 1997
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: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 179 70 0.010 None 1.000 1 2004 2004
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: C0242966
Disease: Systemic Inflammatory Response Syndrome
Systemic Inflammatory Response Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 185 9 0.010 None 1.000 1 2017 2017
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 2 2016 2016
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor 		phenotype Neoplasms Neoplastic Process 267 3 0.010 None 1.000 1 1994 1994
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
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 145 2012 2012
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 413 787 0.010 None 1.000 1 2019 2019
CUI: C2062441
Disease: Influenza A
Influenza A 		disease Disease or Syndrome 563 19 0.010 None 1.000 1 2009 2009
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 2 2 2016 2019
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