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: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2011 2011
CUI: C0231835
Disease: Tachypnea
Tachypnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 82 5 0.100 None 0
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 188 0.100 None 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 104 8 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0035455
Disease: Rhinitis
Rhinitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 178 20 0.100 None 0
CUI: C3552099
Disease: Respiratory insufficiency due to defective ciliary clearance
Respiratory insufficiency due to defective ciliary clearance 		phenotype Respiratory Tract Diseases Finding 10 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 1
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: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 41 3 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 120 11 0.100 None 0
CUI: C0741796
Disease: Recurrent bronchitis
Recurrent bronchitis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 29 1 0.100 None 0
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.100 None 0 1
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2013 2013
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 160 10 0.310 None 1.000 1 1 2012 2012
CUI: C0477432
Disease: Post-Traumatic Hydrocephalus
Post-Traumatic Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 2 2003 2008
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2012 2012
CUI: C0032285
Disease: Pneumonia
Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.100 None 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.100 None 0 1
CUI: C0029883
Disease: Otitis Media with Effusion
Otitis Media with Effusion 		disease Otorhinolaryngologic Diseases Disease or Syndrome 110 1 0.100 None 0
CUI: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 18 1 0.300 None 1.000 2 2003 2008
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 484 34 0.100 None 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2013 2013
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive 		group Respiratory Tract Diseases Disease or Syndrome 104 4 0.100 None 0