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: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
disease Disease or Syndrome 58 9 0.400 None 1.000 13 3 2006 2018
CUI: C0282666
Disease: Very Low Birth Weight
Very Low Birth Weight
phenotype Sign or Symptom 42 2 0.010 None < 0.001 1 2012 2012
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 467 14 0.010 None 1.000 1 2012 2012
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.010 None 1.000 1 2019 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
Ground-glass opacification on pulmonary HRCT
phenotype Finding 14 0.100 None 0
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT
phenotype Finding 14 0.100 None 0
CUI: C0004941
Disease: Behavioral Symptoms
Behavioral Symptoms
group Behavior and Behavior Mechanisms Sign or Symptom 45 9 0.010 None 1.000 1 2016 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2016 2016
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency
phenotype Cardiovascular Diseases Pathologic Function 22 2 0.100 None 0 1
Respiratory Distress Syndrome, Newborn
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 177 37 0.400 None 1.000 21 8 2006 2018
CUI: C2931829
Disease: RDS - infants
RDS - infants
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 6 0.020 None < 0.001 2 2012 2016
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 423 112 0.010 None 1.000 1 1 2008 2008
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 15 0.300 None 1.000 1 2017 2017
Persistent Fetal Circulation Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 14 7 0.010 None 1.000 1 2014 2014
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
CUI: C2677362
Disease: Alveolar capillary dysplasia
Alveolar capillary dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 7 0.010 None 1.000 1 2013 2013
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
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: 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: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 57 323 0.010 None 1.000 1 2008 2008
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 1.000 1 2012 2012
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.300 None 1.000 1 2012 2012
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome
disease Eye Diseases Disease or Syndrome 10 5 0.310 limited 1.000 1 3 2014 2014