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: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2019 2019
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2019 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2019 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2 2018 2018
CUI: C0035321
Disease: Retinal Perforations
Retinal Perforations 		group Eye Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2018 2018
CUI: C0024441
Disease: Macular Holes
Macular Holes 		disease Eye Diseases Disease or Syndrome 42 0.050 None 1.000 5 2017 2018
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.020 None 1.000 2 2017 2018
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.020 None 1.000 2 2017 2018
CUI: C0231926
Disease: Ventilatory defect
Ventilatory defect 		disease Respiratory Tract Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 1 2017 2017
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None 1.000 1 2017 2017
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		group Respiratory Tract Diseases Disease or Syndrome 319 144 0.010 None 1.000 1 1 2017 2017
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2017 2017
CUI: C0011644
Disease: Scleroderma
Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.010 None 1.000 1 2017 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.010 None 1.000 1 2016 2016
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.010 None 1.000 1 2013 2013
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2013 2013
CUI: C3822559
Disease: response to epirubicin
response to epirubicin 		phenotype Cell Function 1 1 0.100 None 1.000 1 1 2013 2013
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 472 112 0.010 None 1.000 1 2013 2013
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.010 None 1.000 1 2012 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C0578870
Disease: Chronic idiopathic urticaria
Chronic idiopathic urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 89 9 0.010 None 1.000 1 2011 2011
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.020 None 1.000 2 2010 2018
CUI: C0154659
Disease: Toxic Encephalitis
Toxic Encephalitis 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 29 0.300 None 1.000 1 2010 2010