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.
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
disease Respiratory Tract Diseases Disease or Syndrome 1 6 0.600 9 6 1959 2009
CUI: C3872848
Disease: Chronic pneumonitis of infancy
Chronic pneumonitis of infancy
disease Disease or Syndrome 1 0.010 1.000 1 2016 2016
CUI: C0555214
Disease: Multiple lung cysts
Multiple lung cysts
disease Disease or Syndrome 2 0.010 1.000 1 2011 2011
CUI: C0746105
Disease: Chronic interstitial lung disease
Chronic interstitial lung disease
disease Disease or Syndrome 2 0.010 1.000 1 2012 2012
CUI: C3711368
Disease: Surfactant Dysfunction
Surfactant Dysfunction
disease Respiratory Tract Diseases Disease or Syndrome 3 0.020 0.500 2 2004 2016
Neuroendocrine cell hyperplasia of infancy
disease Disease or Syndrome 3 0.010 < 0.001 1 2009 2009
Lipoid Proteinosis of Urbach and Wiethe
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 4 10 0.010 1.000 1 1 2011 2011
CUI: C1135361
Disease: Persistent pulmonary hypertension
Persistent pulmonary hypertension
disease Disease or Syndrome 5 0.010 1.000 1 1998 1998
CUI: C0238378
Disease: Desquamative interstitial pneumonia
Desquamative interstitial pneumonia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 6 0.200 1 2003 2003
Preterm Premature Rupture of Fetal Membranes
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 8 0.010 1.000 1 2010 2010
CUI: C3274515
Disease: Severe Bronchopulmonary Dysplasia
Severe Bronchopulmonary Dysplasia
disease Disease or Syndrome 8 2 0.010 1.000 1 2014 2014
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 11 0.500 1 2001 2001
CUI: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood
phenotype Finding 11 0.100 0
Globulin gamma serum plasma increased result
phenotype Finding 11 0.100 0
CUI: C1306857
Disease: Hyperglobulinemia
Hyperglobulinemia
phenotype Finding 11 0.100 0
CUI: C2048011
Disease: Elevated immunoglobulin levels
Elevated immunoglobulin levels
phenotype Laboratory or Test Result 11 0.100 0
CUI: C1290344
Disease: Nonspecific interstitial pneumonia
Nonspecific interstitial pneumonia
disease Disease or Syndrome 13 1 0.020 0.500 2 1 2005 2007
CUI: C0221227
Disease: Centriacinar Emphysema
Centriacinar Emphysema
disease Respiratory Tract Diseases Disease or Syndrome 13 0.010 1.000 1 2012 2012
CUI: C4476544
Disease: Tubulointerstitial scarring
Tubulointerstitial scarring
phenotype Finding 13 0.100 0
CUI: C0149651
Disease: Clubbing
Clubbing
phenotype Sign or Symptom 14 1 0.100 0
CUI: C0241984
Disease: Honeycomb lung
Honeycomb lung
disease Disease or Syndrome 14 0.100 0
Ground-glass opacification on pulmonary HRCT
phenotype Finding 14 0.100 0
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT
phenotype Finding 14 0.100 0
CUI: C0034642
Disease: Rales
Rales
phenotype Pathological Conditions, Signs and Symptoms Finding 16 0.100 0
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
disease Disease or Syndrome 20 0.100 0