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, 3
disease Respiratory Tract Diseases Disease or Syndrome 1 7 0.700 7 7 2004 2015
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease Respiratory Tract Diseases Disease or Syndrome 232 9 0.510 1.000 2 2008 2017
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 431 13 0.420 1.000 3 2008 2017
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 378 49 0.410 1.000 18 2 2006 2014
Respiratory Distress Syndrome, Newborn
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 56 14 0.380 0.625 8 2 2006 2014
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
disease Disease or Syndrome 26 6 0.340 0.750 4 2006 2012
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis
disease Respiratory Tract Diseases Disease or Syndrome 31 1 0.300 3 2007 2007
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.300 1 2012 2012
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension
phenotype Respiratory Tract Diseases Pathologic Function 150 2 0.300 1 2017 2017
Pathological accumulation of air in tissues
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 20 6 0.300 1 2017 2017
CUI: C1855670
Disease: Abnormality of the cornea
Abnormality of the cornea
group Finding 46 0.300 limited 1 2015 2015
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.300 1 2012 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.300 1 2012 2012
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 11 0.300 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.300 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease Respiratory Tract Diseases Disease or Syndrome 184 9 0.180 1.000 8 2007 2015
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Sign or Symptom 103 4 0.170 1.000 7 2008 2015
CUI: C0238378
Disease: Desquamative interstitial pneumonia
Desquamative interstitial pneumonia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 6 0.110 1.000 1 2006 2006
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
group Respiratory Tract Diseases Disease or Syndrome 150 121 0.100 1.000 14 2006 2016
CUI: C0489636
Disease: RR interval
RR interval
phenotype Clinical Attribute 4 6 0.100 1 1 2017 2017
CUI: C0231835
Disease: Tachypnea
Tachypnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 25 1 0.100 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion
phenotype Sign or Symptom 49 0.100 0
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype Finding 538 22 0.100 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
phenotype Finding 528 0.100 0
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 139 4 0.100 0