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: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		disease Respiratory Tract Diseases Disease or Syndrome 1 8 0.700 strong 1.000 14 8 2004 2018
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: C1998122
Disease: Chronic respiratory insufficiency
Chronic respiratory insufficiency 		disease Respiratory Tract Diseases Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C0746105
Disease: Chronic interstitial lung disease
Chronic interstitial lung disease 		disease Respiratory Tract Diseases Disease or Syndrome 3 0.010 None 1.000 1 2008 2008
CUI: C3179539
Disease: Congenital Deficiency of Pulmonary Surfactant Protein B
Congenital Deficiency of Pulmonary Surfactant Protein B 		disease Respiratory Tract Diseases Disease or Syndrome 3 0.010 None 1.000 1 2005 2005
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
CUI: C3161105
Disease: Neuroendocrine cell hyperplasia of infancy
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: 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: 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: C0238378
Disease: Desquamative interstitial pneumonia
Desquamative interstitial pneumonia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 9 1 0.110 None 1.000 1 2005 2005
CUI: C3711368
Disease: Surfactant Dysfunction
Surfactant Dysfunction 		disease Respiratory Tract Diseases Disease or Syndrome 10 0.020 None 1.000 2 2016 2018
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		disease Eye Diseases Disease or Syndrome 10 5 0.310 limited 1.000 1 3 2014 2014
CUI: C0031190
Disease: Persistent Fetal Circulation Syndrome
Persistent Fetal Circulation Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 14 7 0.010 None 1.000 1 2014 2014
CUI: C0241984
Disease: Honeycomb lung
Honeycomb lung 		disease Respiratory Tract Diseases Disease or Syndrome 14 0.100 None 0
CUI: C4476639
Disease: Ground-glass opacification on pulmonary HRCT
Ground-glass opacification on pulmonary HRCT 		phenotype Finding 14 0.100 None 0
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT 		phenotype Finding 14 0.100 None 0
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 15 0.300 None 1.000 1 2017 2017
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency 		phenotype Cardiovascular Diseases Pathologic Function 22 2 0.100 None 0 1
CUI: C0034642
Disease: Rales
Rales 		phenotype Pathological Conditions, Signs and Symptoms Finding 23 0.100 None 0
CUI: C0282666
Disease: Very Low Birth Weight
Very Low Birth Weight 		phenotype Sign or Symptom 42 2 0.010 None < 0.001 1 2012 2012
CUI: C0004941
Disease: Behavioral Symptoms
Behavioral Symptoms 		group Behavior and Behavior Mechanisms Sign or Symptom 45 9 0.010 None 1.000 1 2016 2016
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: 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
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 57 323 0.010 None 1.000 1 2008 2008
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		disease Disease or Syndrome 58 9 0.400 None 1.000 13 3 2006 2018