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: C1510428
Disease: Cerebral abscess
Cerebral abscess
disease Infections; Nervous System Diseases Disease or Syndrome 11 1 0.010 None 1.000 1 2007 2007
CUI: C0006105
Disease: Brain Abscess
Brain Abscess
disease Infections; Nervous System Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2007 2007
CUI: C0201925
Disease: Calcium measurement
Calcium measurement
phenotype Laboratory Procedure 23 71 0.100 None 1.000 1 1 2018 2018
Thyroid stimulating hormone measurement
phenotype Laboratory Procedure 42 83 0.100 None 1.000 1 1 2018 2018
CUI: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer
disease Neoplastic Process 51 18 0.010 None 1.000 1 2006 2006
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement
group Laboratory Procedure 53 92 0.100 None 1.000 1 1 2016 2016
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma
disease Neoplasms Neoplastic Process 54 1 0.010 None 1.000 1 2006 2006
CUI: C0451641
Disease: Urolithiasis
Urolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 33 0.100 None 1.000 1 1 2019 2019
CUI: C0202202
Disease: Protein measurement
Protein measurement
group Laboratory Procedure 75 422 0.100 None 1.000 1 1 2016 2016
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
phenotype Laboratory Procedure 82 123 0.100 None 1.000 1 1 2012 2012
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
phenotype Laboratory Procedure 90 174 0.100 None 1.000 3 3 2012 2019
Creatinine measurement, serum (procedure)
phenotype Laboratory Procedure 124 243 0.100 None 1.000 5 3 2010 2018
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2016 2016
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 1 2016 2016
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
group Disease or Syndrome 188 9 0.010 None 1.000 1 2007 2007
CUI: C0018099
Disease: Gout
Gout
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.100 None 1.000 2 6 2013 2015
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 3 4 2018 2018
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 206 2356 0.100 None 1.000 2 6 2013 2015
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 4 2 2013 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2019 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 9 8 2016 2019
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.010 None 1.000 1 2006 2006
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 2 3 2016 2019