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: C0011847
Disease: Diabetes
Diabetes
disease Disease or Syndrome 1267 349 0.100 1.000 20 2008 2017
CUI: C0270549
Disease: Generalized Anxiety Disorder
Generalized Anxiety Disorder
disease Mental or Behavioral Dysfunction 33 13 0.020 1.000 2 2010 2016
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease
disease Disease or Syndrome 131 79 0.010 1.000 1 2016 2016
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 201 472 0.100 1 1 2017 2017
Latent autoimmune diabetes mellitus in adult
disease Disease or Syndrome 30 8 0.010 1.000 1 2012 2012
CUI: C3887639
Disease: Autoimmune gastritis
Autoimmune gastritis
disease Disease or Syndrome 19 2 0.010 1.000 1 2016 2016
Liver function tests abnormal finding
phenotype Finding 117 0.100 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
phenotype Finding 38 0.100 0
CUI: C0235996
Disease: Elevated liver enzymes
Elevated liver enzymes
phenotype Finding 117 0.100 0
CUI: C0438237
Disease: Liver enzymes abnormal
Liver enzymes abnormal
phenotype Finding 117 0.100 0
CUI: C0438717
Disease: Transaminases increased
Transaminases increased
phenotype Finding 117 0.100 0
Increased total iron binding capacity
phenotype Finding 2 0.100 0
CUI: C0877359
Disease: Increased liver function tests
Increased liver function tests
phenotype Finding 117 0.100 0
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Disease or Syndrome 91 2 0.300 limited 0
Subclinical abnormal liver function tests
phenotype Finding 117 0.100 0
CUI: C1843921
Disease: Postural instability
Postural instability
phenotype Finding 23 1 0.100 0
CUI: C1848701
Disease: Elevated hepatic transaminases
Elevated hepatic transaminases
phenotype Finding 118 2 0.100 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination
phenotype Finding 5 0.100 0
CUI: C1868945
Disease: Polyglobulia
Polyglobulia
disease Disease or Syndrome 8 0.100 0
CUI: C3279149
Disease: Liver dysfunction, mild
Liver dysfunction, mild
phenotype Finding 38 0.100 0
CUI: C4020871
Disease: Dystonic disease
Dystonic disease
disease Disease or Syndrome 147 0.100 0
CUI: C0030524
Disease: Paratuberculosis
Paratuberculosis
disease Animal Diseases; Bacterial Infections and Mycoses Disease or Syndrome 27 0.010 1.000 1 2016 2016
Infection by Cryptococcus neoformans
disease Bacterial Infections and Mycoses Disease or Syndrome 41 0.010 1.000 1 2018 2018
CUI: C0026946
Disease: Mycoses
Mycoses
group Bacterial Infections and Mycoses Disease or Syndrome 134 6 0.010 1.000 1 2018 2018
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 62 10 0.010 1.000 1 2009 2009