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: C4317009
Disease: Diverticular Diseases
Diverticular Diseases
group Digestive System Diseases Disease or Syndrome 56 0.400 None 1.000 1 1 2018 2018
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 0.100 None 1.000 1 1 2012 2012
CUI: C0428321
Disease: Measurement of liver enzyme
Measurement of liver enzyme
phenotype Laboratory Procedure 7 0.100 None 1.000 1 1 2008 2008
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 579 0.110 None 1.000 1 1 2018 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 19 0.500 None 0.960 1 1 2009 2018
CUI: C0337438
Disease: Glucose measurement
Glucose measurement
phenotype Laboratory Procedure 89 0.100 None 1.000 1 1 2011 2011
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 0.100 None 1.000 1 1 2016 2016
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 23 0.200 None 1.000 1 1 1987 2019
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement
phenotype Laboratory Procedure 29 0.100 None 1.000 1 1 2018 2018
CUI: C0441683
Disease: Hormone measurement
Hormone measurement
group Laboratory Procedure 51 0.100 None 1.000 1 1 2013 2013
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level
phenotype Finding 89 0.100 None 1.000 1 1 2011 2011
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement
phenotype Laboratory Procedure 27 0.100 None 1.000 1 1 2011 2011
Platelet Component Distribution Width Measurement
phenotype Laboratory Procedure 134 0.100 None 1.000 1 1 2016 2016
Fibroblast Growth Factor 23 Measurement
phenotype Laboratory Procedure 6 0.100 None 1.000 1 1 2018 2018
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 90 0.130 None 0.500 1 1 2010 2019
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder)
disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 58 0.110 None 0.500 1 1 2017 2018
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement
phenotype Laboratory Procedure 23 0.100 None 1.000 1 1 2017 2017
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 0.100 None 1.000 1 1 2018 2018
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases
group Cardiovascular Diseases Disease or Syndrome 47 0.130 None 1.000 1 1 2014 2019
CUI: C1287351
Disease: Finding of liver enzyme levels
Finding of liver enzyme levels
phenotype Laboratory or Test Result 7 0.100 None 1.000 1 1 2008 2008
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 272 0.100 None 1.000 1 1 2016 2016
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 150 0.430 None 1.000 1 1 2009 2018
CUI: C0018213
Disease: Graves Disease
Graves Disease
disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 55 0.110 None 1.000 1 1 2013 2013
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 0.100 None 1.000 1 1 2016 2016
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism
disease Respiratory Tract Diseases; Cardiovascular Diseases Pathologic Function 61 0.100 None 1.000 1 1 2016 2016