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: C0039231
Disease: Tachycardia
Tachycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 73 8 0.100 None 0
CUI: C0034642
Disease: Rales
Rales 		phenotype Pathological Conditions, Signs and Symptoms Finding 23 0.100 None 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 82 5 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 52 7 0.100 None 0
CUI: C4023112
Disease: Acute infectious pneumonia
Acute infectious pneumonia 		disease Disease or Syndrome 7 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: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		phenotype Finding 61 8 0.100 None 0
CUI: C4022660
Disease: Autoimmune antibody positivity
Autoimmune antibody positivity 		phenotype Laboratory or Test Result 5 0.100 None 0
CUI: C0010200
Disease: Coughing
Coughing 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 235 16 0.100 None 0
CUI: C4025279
Disease: Respiratory failure requiring assisted ventilation
Respiratory failure requiring assisted ventilation 		phenotype Respiratory Tract Diseases Finding 9 1 0.100 None 0
CUI: C4476917
Disease: Elevated carcinoembryonic antigen level
Elevated carcinoembryonic antigen level 		phenotype Finding 4 0.100 None 0
CUI: C4281786
Disease: Presence of foam cells
Presence of foam cells 		phenotype Cardiovascular Diseases Finding 5 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: 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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 1994 1994
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 162 21 0.010 None 1.000 1 1996 1996
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: 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: 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: 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: 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: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.340 None 1.000 4 2007 2010
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		disease Respiratory Tract Diseases Disease or Syndrome 51 7 0.700 strong 1.000 14 1 2008 2019
CUI: C2677877
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 4
Surfactant Metabolism Dysfunction, Pulmonary, 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 2 1 0.700 None 1.000 4 1 2008 2014