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: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.120 None 1.000 2 2013 2014
CUI: C0242510
Disease: Drug usage
Drug usage
phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 170 21 0.010 None 1.000 1 2014 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.120 None 1.000 2 2015 2018
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 5 5 0.010 None 1.000 1 2015 2015
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 21 31 0.010 None 1.000 1 2016 2016
CUI: C0004936
Disease: Mental disorders
Mental disorders
group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.010 None 1.000 1 2017 2017
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 405 135 0.010 None 1.000 1 2018 2018
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.010 None 1.000 1 2018 2018
Weill-Marchesani Syndrome, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 3 23 0.500 None 1.000 1 2018 2018
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.010 None 1.000 1 2018 2018
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.010 None 1.000 1 2018 2018
CUI: C1404153
Disease: Valve anomalies
Valve anomalies
disease Congenital Abnormality 4 0.010 None 1.000 1 2019 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution
phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 34 17 0.110 None 1.000 1 2019 2019
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 87 46 0.100 None 1.000 1 1 2019 2019