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: C0006267
Disease: Bronchiectasis
Bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.100 None 0
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency
phenotype Cardiovascular Diseases Pathologic Function 22 2 0.100 None 0
CUI: C0034642
Disease: Rales
Rales
phenotype Pathological Conditions, Signs and Symptoms Finding 23 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: C0241984
Disease: Honeycomb lung
Honeycomb lung
disease Respiratory Tract Diseases Disease or Syndrome 14 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: 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: C0009080
Disease: Clubbed Fingers
Clubbed Fingers
disease Musculoskeletal Diseases Anatomical Abnormality 88 1 0.100 None 0
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT
phenotype Finding 14 0.100 None 0
Ground-glass opacification on pulmonary HRCT
phenotype Finding 14 0.100 None 0
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.100 None 0
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 3 3 2016 2019
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 3 3 2016 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.020 None 1.000 2 2007 2010
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2007 2007
Precursor B-cell lymphoblastic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 478 23 0.010 None 1.000 1 2018 2018
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
disease Neoplasms Neoplastic Process 108 109 0.100 None 1.000 1 1 2019 2019
Neuropathy ataxia and retinis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2006 2006
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.500 None 1.000 1 2013 2013
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.010 None 1.000 1 2005 2005
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2011 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2010 2010
Chronic rhinosinusitis with nasal polyps
disease Neoplastic Process 168 1 0.010 None 1.000 1 2017 2017
CUI: C4721508
Disease: Hamman-Rich Disease
Hamman-Rich Disease
disease Respiratory Tract Diseases Disease or Syndrome 20 0.300 None 1.000 1 2013 2013
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia
disease Respiratory Tract Diseases Disease or Syndrome 64 2 0.300 None 1.000 1 2013 2013