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: C0009080
Disease: Clubbed Fingers
Clubbed Fingers
disease Musculoskeletal Diseases Anatomical Abnormality 88 1 0.100 None 0
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 2 12 0.010 None 1.000 1 2005 2005
CUI: C2677362
Disease: Alveolar capillary dysplasia
Alveolar capillary dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 7 0.010 None 1.000 1 2013 2013
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
group Respiratory Tract Diseases Disease or Syndrome 319 144 0.100 None 0.938 32 5 2005 2019
Respiratory Distress Syndrome, Newborn
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 177 37 0.400 None 1.000 21 8 2006 2018
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.100 None 1.000 17 2004 2018
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 55 8 0.400 None 1.000 17 2 2005 2014
Surfactant Metabolism Dysfunction, Pulmonary, 3
disease Respiratory Tract Diseases Disease or Syndrome 1 8 0.700 strong 1.000 14 8 2004 2018
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
disease Disease or Syndrome 58 9 0.400 None 1.000 13 3 2006 2018
Respiratory Distress Syndrome, Adult
disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.100 None 1.000 12 3 2006 2018
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.190 None 1.000 9 2007 2017
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure
disease Respiratory Tract Diseases Disease or Syndrome 8 0.050 None 1.000 5 2006 2014
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis
disease Respiratory Tract Diseases Disease or Syndrome 51 7 0.300 None 1.000 3 2007 2007
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.320 None 1.000 3 2008 2017
CUI: C0032285
Disease: Pneumonia
Pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.020 None 1.000 2 2007 2010
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.020 None 1.000 2 2010 2016
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.420 None 1.000 2 2014 2016
CUI: C0035204
Disease: Respiration Disorders
Respiration Disorders
group Respiratory Tract Diseases Disease or Syndrome 208 6 0.020 None 1.000 2 2006 2012
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases
group Respiratory Tract Diseases Disease or Syndrome 198 109 0.020 None 1.000 2 2006 2012
CUI: C0162429
Disease: Malnutrition
Malnutrition
disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.020 None 1.000 2 1 2006 2018
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease
disease Respiratory Tract Diseases Disease or Syndrome 133 12 0.020 None 1.000 2 1 2007 2012
CUI: C2931829
Disease: RDS - infants
RDS - infants
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 6 0.020 None < 0.001 2 2012 2016
Neuroendocrine cell hyperplasia of infancy
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 7 0.020 None 0.500 2 2007 2009
CUI: C3711368
Disease: Surfactant Dysfunction
Surfactant Dysfunction
disease Respiratory Tract Diseases Disease or Syndrome 10 0.020 None 1.000 2 2016 2018