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: 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
Familial Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 23 0.300 None 1.000 1 2013 2013
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 55 8 0.300 None 1.000 1 2013 2013
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
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: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
group Respiratory Tract Diseases Disease or Syndrome 319 144 0.100 None 1.000 1 1 2013 2013
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer
disease Neoplasms Neoplastic Process 64 109 0.100 None 1.000 1 1 2019 2019
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm
disease Neoplasms Neoplastic Process 58 109 0.100 None 1.000 1 1 2019 2019
CUI: C0406208
Disease: Suntan
Suntan
phenotype Organ or Tissue Function 53 94 0.100 None 1.000 1 1 2018 2018
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2016 2016
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 2 2019 2019
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 2 2019 2019
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
disease Neoplasms Neoplastic Process 108 109 0.100 None 1.000 1 1 2019 2019
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
CUI: C0034642
Disease: Rales
Rales
phenotype Pathological Conditions, Signs and Symptoms Finding 23 0.100 None 0
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
Ground-glass opacification on pulmonary HRCT
phenotype Finding 14 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: 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: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT
phenotype Finding 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