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.
Abnormality of primary molar morphology
disease Anatomical Abnormality 1 0.100 None 0
Abnormality of subcutaneous fat tissue
phenotype Anatomical Abnormality 4 1 0.100 None 0
CUI: C3887650
Disease: Adult Rickets
Adult Rickets
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 47 0.100 None 0
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2007 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.050 None 1.000 5 2005 2019
CUI: C0003431
Disease: Antisocial Personality Disorder
Antisocial Personality Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 63 6 0.010 None 1.000 1 2018 2018
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None 1.000 1 2017 2017
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.020 None 1.000 2 1996 2017
CUI: C0085632
Disease: Apathy
Apathy
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 83 9 0.010 None 1.000 1 2018 2018
CUI: C0003537
Disease: Aphasia
Aphasia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 86 3 0.100 None 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.010 None 1.000 1 1996 1996
Avascular necrosis of the capital femoral epiphysis
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 23 0.100 None 0
Behavioral and psychological symptoms of dementia
phenotype Sign or Symptom 72 9 0.030 None 1.000 3 2018 2019
CUI: C0005742
Disease: Blepharochalasis
Blepharochalasis
disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0542514
Disease: Blue sclera
Blue sclera
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution
phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 2 2019 2019
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
group Nervous System Diseases Disease or Syndrome 345 10 0.010 None 1.000 1 2019 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2016 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2017 2017
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness
phenotype Clinical Attribute 35 61 0.100 None 1.000 1 1 2018 2018
CUI: C0917996
Disease: Cerebral Aneurysm
Cerebral Aneurysm
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 3 0.010 None 1.000 1 2016 2016
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2016 2016
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
disease Neoplasms Neoplastic Process 2208 151 0.020 None 1.000 2 2003 2014
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
disease Neoplasms Neoplastic Process 385 8 0.010 None 1.000 1 2001 2001