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: C3280574
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 		disease Disease or Syndrome 1 1 0.600 strong 1.000 2 1 2004 2011
CUI: C4476749
Disease: Crazy paving pattern on pulmonary HRCT
Crazy paving pattern on pulmonary HRCT 		phenotype Finding 3 0.100 None 0
CUI: C4476917
Disease: Elevated carcinoembryonic antigen level
Elevated carcinoembryonic antigen level 		phenotype Finding 4 0.100 None 0
CUI: C2931035
Disease: Pulmonary alveolar proteinosis, congenital
Pulmonary alveolar proteinosis, congenital 		disease Respiratory Tract Diseases Disease or Syndrome 5 0.300 None 1.000 2 2011 2011
CUI: C4274391
Disease: Dominant beta-thalassemia
Dominant beta-thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2005 2005
CUI: C4022660
Disease: Autoimmune antibody positivity
Autoimmune antibody positivity 		phenotype Laboratory or Test Result 5 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: C4023112
Disease: Acute infectious pneumonia
Acute infectious pneumonia 		disease Disease or Syndrome 7 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: C0034642
Disease: Rales
Rales 		phenotype Pathological Conditions, Signs and Symptoms Finding 23 0.100 None 0
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		disease Respiratory Tract Diseases Disease or Syndrome 51 7 0.640 strong 1.000 7 1995 2019
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 52 7 0.100 None 0
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		phenotype Finding 61 8 0.100 None 0
CUI: C0039231
Disease: Tachycardia
Tachycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 73 8 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: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype Finding 97 12 0.100 None 0
CUI: C0018621
Disease: Hay fever
Hay fever 		disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 114 42 0.010 None 1.000 1 1 2011 2011
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 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: 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: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 358 5 0.200 None 1.000 1 1995 1995
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 371 44 0.010 None 1.000 1 1 2011 2011
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.300 None 1.000 1 2011 2011
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2016 2016