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: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 1 2010 2019
CUI: C0005612
Disease: Birth Weight
Birth Weight
phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 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 2010 2010
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 6 12 0.020 None 1.000 2 2010 2011
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
phenotype Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 13 1 0.010 None 1.000 1 2019 2019
Pancreatic intraepithelial neoplasia
disease Neoplasms Neoplastic Process 186 11 0.010 None 1.000 1 2017 2017
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2017 2017
Prieto X-linked mental retardation syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2016 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 2016 2016