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.
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: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
disease Digestive System Diseases Disease or Syndrome 156 62 0.010 None 1.000 1 2015 2015
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
Familial Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 23 0.300 None 1.000 1 2013 2013
CUI: C0406208
Disease: Suntan
Suntan
phenotype Organ or Tissue Function 53 94 0.100 None 1.000 1 1 2018 2018
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2010 2010
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm
disease Neoplasms Neoplastic Process 58 109 0.100 None 1.000 1 1 2019 2019
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 2 2019 2019
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
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
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
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
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: C0023264
Disease: Leigh Disease
Leigh Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.010 None 1.000 1 2006 2006
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2011 2011
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: C0008350
Disease: Cholelithiasis
Cholelithiasis
disease Digestive System Diseases Disease or Syndrome 252 90 0.010 None 1.000 1 2015 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2010 2010