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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2009 2009
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: C1404153
Disease: Valve anomalies
Valve anomalies
disease Congenital Abnormality 4 0.010 None 1.000 1 2019 2019
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: 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
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: C0004936
Disease: Mental disorders
Mental disorders
group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.010 None 1.000 1 2017 2017
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder
disease Eye Diseases Disease or Syndrome 304 56 0.010 None 1.000 1 1 2011 2011
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: 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: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.020 None 1.000 2 1 2010 2018
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
disease Eye Diseases Disease or Syndrome 383 222 0.020 None 1.000 2 1 2011 2014
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 104 6 0.060 None 1.000 6 1 2008 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 4 2 2008 2019
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution
phenotype Finding 90 119 0.100 None 1.000 1 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: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 1 1 2008 2008
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 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
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth
phenotype Finding 22 2 0.100 None 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis
disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 19 11 0.100 None 0