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: C0034642
Disease: Rales
Rales
phenotype Pathological Conditions, Signs and Symptoms Finding 23 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 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 2
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency
phenotype Cardiovascular Diseases Pathologic Function 22 2 0.100 None 0 1
CUI: C0231835
Disease: Tachypnea
Tachypnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 82 5 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0 1
CUI: C0241984
Disease: Honeycomb lung
Honeycomb lung
disease Respiratory Tract Diseases Disease or Syndrome 14 0.100 None 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 102 3 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
Ground-glass opacification on pulmonary HRCT
phenotype Finding 14 0.100 None 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress
phenotype Respiratory Tract Diseases Finding 64 34 0.100 None 0 1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT
phenotype Finding 14 0.100 None 0
CUI: C0003578
Disease: Apnea
Apnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.100 None 0
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.100 None 0
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers
disease Musculoskeletal Diseases Anatomical Abnormality 88 1 0.100 None 0
CUI: C0023518
Disease: Leukocytosis
Leukocytosis
phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 168 4 0.010 None 1.000 1 2004 2004
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
Congenital Deficiency of Pulmonary Surfactant Protein B
disease Respiratory Tract Diseases Disease or Syndrome 3 0.010 None 1.000 1 2005 2005
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: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 80 11 0.010 None 1.000 1 2005 2005
CUI: C0020757
Disease: Ichthyoses
Ichthyoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.010 None 1.000 1 2005 2005
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 644 23 0.010 None 1.000 1 2006 2006
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia
disease Neoplasms Neoplastic Process 215 6 0.010 None 1.000 1 2006 2006