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: C4023112
Disease: Acute infectious pneumonia
Acute infectious pneumonia 		disease Disease or Syndrome 7 0.100 None 0
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None 1.000 1 2016 2016
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 371 55 0.010 None 1.000 1 1997 1997
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 1997 1997
CUI: C4022660
Disease: Autoimmune antibody positivity
Autoimmune antibody positivity 		phenotype Laboratory or Test Result 5 0.100 None 0
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.010 None 1.000 1 2014 2014
CUI: C0010200
Disease: Coughing
Coughing 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 235 16 0.100 None 0
CUI: C4476749
Disease: Crazy paving pattern on pulmonary HRCT
Crazy paving pattern on pulmonary HRCT 		phenotype Finding 3 0.100 None 0
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.020 None 1.000 2 2011 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None < 0.001 1 2020 2020
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None < 0.001 1 2020 2020
CUI: C0012546
Disease: Diphtheria
Diphtheria 		disease Infections Disease or Syndrome 147 0.010 None 1.000 1 2017 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 1996 1996
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.010 None 1.000 1 2010 2010
CUI: C1839130
Disease: Dystonia 3, Torsion, X-Linked
Dystonia 3, Torsion, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 1993 1993
CUI: C4476917
Disease: Elevated carcinoembryonic antigen level
Elevated carcinoembryonic antigen level 		phenotype Finding 4 0.100 None 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype Finding 97 12 0.100 None 0
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity 		group Immune System Diseases Pathologic Function 90 2 0.300 strong 1.000 1 2013 2013
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 52 7 0.100 None 0
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		disease Immune System Diseases Disease or Syndrome 133 46 0.010 None 1.000 1 1997 1997
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.010 None 1.000 1 2011 2011
CUI: C0155880
Disease: Intrinsic asthma
Intrinsic asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 29 5 0.010 None 1.000 1 1997 1997
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		disease Digestive System Diseases Disease or Syndrome 429 52 0.010 None 1.000 1 2011 2011
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 179 70 0.020 None 1.000 2 2015 2016
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.010 None 1.000 1 2009 2009